Cor R. W. J. Cremers

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Philosophy

Cor R. W. J. Cremers's Degrees

PhD Medical Sciences Radboud University Nijmegen

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Cor R. W. J. Cremers's Published Works

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Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

SDH5, a Gene Required for Flavination of Succinate Dehydrogenase, Is Mutated in Paraganglioma (2009) (696)
Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness (1999) (672)
GJB2 mutations and degree of hearing loss: a multicenter study. (2005) (479)
Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. (1998) (381)
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis (1999) (332)
SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma. (2010) (258)
Occupational Noise, Smoking, and a High Body Mass Index are Risk Factors for Age-related Hearing Impairment and Moderate Alcohol Consumption is Protective: A European Population-based Multicenter Study (2008) (250)
Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13) (1999) (249)
Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss. (2001) (229)
GRM7 variants confer susceptibility to age-related hearing impairment. (2009) (193)
Mutations in different components of FGF signaling in LADD syndrome (2006) (190)
Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease (2003) (183)
Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II. (2004) (182)
Two frequent missense mutations in Pendred syndrome. (1998) (179)
The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1. (2006) (177)
Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa. (2000) (176)
Phenotypic manifestations of branchiootorenal syndrome (1995) (162)
Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4. (1996) (159)
Bone-Anchored Hearing Aids in Unilateral Inner Ear Deafness: An Evaluation of Audiometric and Patient Outcome Measurements (2005) (154)
Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families. (1999) (148)
A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects. (1999) (139)
Linkage of autosomal dominant hearing loss to the short arm of chromosome 1 in two families. (1994) (137)
SDHAF2 (PGL2-SDH5) and Hereditary Head and Neck Paraganglioma (2011) (135)
The grainyhead like 2 gene (GRHL2), alias TFCP2L3, is associated with age-related hearing impairment. (2008) (134)
Bone-anchored Hearing Aids in Unilateral Inner Ear Deafness (2003) (127)
Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients. (1996) (115)
Pilot study on the effectiveness of the conventional CROS, the transcranial CROS and the BAHA transcranial CROS in adults with unilateral inner ear deafness (2009) (113)
The BAHA Softband. A new treatment for young children with bilateral congenital aural atresia. (2005) (111)
Clinical Outcome of the Simplified Surgical Technique for BAHA Implantation (2008) (110)
Cochlin immunostaining of inner ear pathologic deposits and proteomic analysis in DFNA9 deafness and vestibular dysfunction. (2006) (108)
Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35. (2008) (108)
Development of a genotyping microarray for Usher syndrome (2005) (108)
Progressive hearing loss, hypoplasia of the cochlea and widened vestibular aqueducts are very common features in Pendred's syndrome. (1998) (104)
Bone-Anchored Hearing Aid in Unilateral Inner Ear Deafness: A Study of 20 Patients (2004) (100)
Comparison Between a New Implantable Transcutaneous Bone Conductor and Percutaneous Bone-Conduction Hearing Implant (2013) (94)
Fine mapping of a putatively imprinted gene for familial non-chromaffin paragangliomas to chromosome 11q13.1: evidence for genetic heterogeneity (2004) (93)
KCNQ4 K+ channels tune mechanoreceptors for normal touch sensation in mouse and man (2011) (93)
The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome without and with associated features: two separate entities? (1994) (90)
Bone-Anchored Hearing Aid System Application for Unilateral Congenital Conductive Hearing Impairment: Audiometric Results (2008) (89)
The bone-anchored hearing aid: quality-of-life assessment. (2004) (86)
The coding polymorphism T263I in TGF-beta1 is associated with otosclerosis in two independent populations. (2007) (85)
Contribution of the N-acetyltransferase 2 polymorphism NAT2*6A to age-related hearing impairment (2007) (84)
Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations (2002) (83)
A common ancestral origin of the frequent and widespread 2299delG USH2A mutation. (2001) (83)
Bone-Anchored Hearing Aids in Patients with Acquired and Congenital Unilateral Inner Ear Deafness (Baha CROS): Clinical Evaluation of 56 Cases (2010) (82)
Multicenter audiometric results with the Vibrant Soundbridge, a semi-implantable hearing device for sensorineural hearing impairment. (2001) (82)
Candidacy for the Bone-Anchored Hearing Aid (2004) (82)
SIX1 mutation screening in 247 branchio‐oto‐renal syndrome families: a recurrent missense mutation associated with BOR (2008) (80)
Intraindividual comparison of the bone-anchored hearing aid and air-conduction hearing aids. (1998) (79)
A genome-wide analysis identifies genetic variants in the RELN gene associated with otosclerosis. (2009) (77)
Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNASer(UCN) gene (1999) (76)
Branchio‐oto‐renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR (2008) (75)
Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction. (2010) (75)
The Treacher Collins syndrome. A clinical, radiological, and genetic linkage study on two pedigrees. (1995) (75)
A Novel Mutation Identified in the DFNA5 Gene in a Dutch Family: A Clinical and Genetic Evaluation (2003) (75)
Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa. (2016) (74)
A fifth locus for otosclerosis, OTSC5, maps to chromosome 3q22–24 (2004) (74)
Characterizing and Distinguishing Progressive Phenotypes in Nonsyndromic Autosomal Dominant Hearing Impairment (2003) (74)
Phenotypic manifestations of branchio-oto-renal syndrome. (1995) (73)
Gamma knife radiosurgery for vestibular schwannomas: Results of hearing preservation in relation to the cochlear radiation dose (2009) (73)
The earpits-deafness syndrome. Clinical and genetic aspects. (1980) (72)
International consensus on Vibrant Soundbridge® implantation in children and adolescents. (2010) (72)
Stability, Survival, and Tolerability of a Novel Baha Implant System: Six-Month Data From a Multicenter Clinical Investigation (2011) (71)
Gene mapping of Usher syndrome type IIa: localization of the gene to a 2.1-cM segment on chromosome 1q41. (1995) (70)
Familial non‐chromaffinic paragangliomas (glomus tumors) : Clinical aspects. (1981) (70)
Binaural Application of the Bone-Anchored Hearing Aid (1998) (67)
Diagnosis and Management Strategies in Congenital Atresia of the External Auditory Canal (1999) (66)
Genotype–Phenotype Correlation in DFNB8/10 Families with TMPRSS3 Mutations (2011) (66)
Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment (2007) (65)
A one-stage surgical procedure for placement of percutaneous implants for the bone-anchored hearing aid (1994) (65)
Audiometric Results of Bilateral Bone‐Anchored Hearing Aid Application in Patients With Bilateral Congenital Aural Atresia (1998) (65)
Genomewide search and genetic localization of a second gene associated with autosomal dominant branchio-oto-renal syndrome: clinical and genetic implications. (2000) (64)
Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment. (2010) (64)
Treacher Collins syndrome: correlation between clinical and genetic linkage studies. (1994) (63)
Analysis of a second family with hereditary non-chromaffin paragangliomas locates the underlying gene at the proximal region of chromosome 11q (1993) (62)
Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I. (2000) (62)
Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding (2008) (61)
Genome-wide SNP-based linkage scan identifies a locus on 8q24 for an age-related hearing impairment trait. (2008) (61)
Mutations in the lipoma HMGIC fusion partner‐like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss (2006) (61)
A seventh locus for otosclerosis, OTSC7, maps to chromosome 6q13–16.1 (2007) (61)
Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region. (2000) (59)
X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery. (1985) (59)
Molecular characterization of WFS1 in patients with Wolfram syndrome. (2003) (57)
The Contribution of GJB2 (Connexin 26) 35delG to Age-Related Hearing Impairment and Noise-Induced Hearing Loss (2007) (57)
The bone-anchored hearing aid compared with conventional hearing aids. Audiologic results and the patients' opinions. (1995) (57)
USH2A Mutation analysis in 70 Dutch families with Usher syndrome type II (2004) (55)
Clinical features of female heterozygotes in the X-linked mixed deafness syndrome (with perilymphatic gusher during stapes surgery). (1983) (55)
Hearing with the bone-anchored hearing aid (BAHA, HC 200) compared to a conventional bone-conduction hearing aid. (1992) (54)
Longitudinal and Cross-Sectional Phenotype Analysis in a New, Large Dutch DFNA2/KCNQ4 Family (2002) (54)
Identification of three novel mutations in human EYA1 protein associated with branchio‐oto‐renal syndrome (1998) (54)
Autosomal dominant branchio-oto-renal syndrome--localization of a disease gene to chromosome 8q by linkage in a Dutch family. (1992) (54)
Otosclerosis: a genetically heterogeneous disease involving at least three different genes. (2002) (52)
Benefit and quality of life after bone-anchored hearing aid fitting in children with unilateral or bilateral hearing impairment. (2011) (52)
Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11) (2004) (52)
Does the Bone-Anchored Hearing Aid Have a Complementary Effect on Audiological and Subjective Outcomes in Patients with Unilateral Conductive Hearing Loss? (2005) (52)
Genetic heterogeneity of Usher syndrome type II: localisation to chromosome 5q (2000) (51)
The presence of a widened vestibular aqueduct and progressive sensorineural hearing loss in the branchio-oto-renal syndrome. A family study. (2001) (51)
Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1 (2010) (51)
Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing. (1997) (50)
Linkage analysis of progressive hearing loss in five extended families maps the DFNA2 gene to a 1.25-Mb region on chromosome 1p. (1997) (50)
Progressive Cochleovestibular Impairment Caused by a Point Mutation in the COCH Gene at DFNA9 (1999) (50)
Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family. (2011) (49)
Osteogenesis imperfecta: the audiological phenotype lacks correlation with the genotype (2011) (49)
Long-term results of bone-anchored hearing aid recipients who had previously used air-conduction hearing aids. (2005) (49)
Mutations in the KCNQ 4 gene are responsible for autosomal dominant deafness in four DFNA 2 families (1999) (49)
The Bone-Anchored Hearing Aid in Patients with a Unilateral Air-Bone Gap (2002) (48)
A Novel TECTA Mutation in a Dutch DFNA8/12 Family Confirms Genotype–Phenotype Correlation (2006) (48)
Classification of congenital aural atresia and results of reconstructive surgery. (1988) (47)
Sonotubometry: Eustachian Tube Ventilatory Function Test: A State-of-the-Art Review (2005) (47)
A mutational hot spot in the KCNQ4 gene responsible for autosomal dominant hearing impairment (2002) (46)
Improved Horizontal Directional Hearing in Bone Conduction Device Users with Acquired Unilateral Conductive Hearing Loss (2010) (46)
Hearing impairment related to age in Usher syndrome types 1B and 2A. (1999) (46)
Patients' opinions of bone-anchored vs conventional hearing aids. (1995) (45)
Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family (2003) (45)
Vibrant semi-implantable hearing device with digital sound processing: effective gain and speech perception. (2001) (45)
Deafness linked to DFNA2: one locus but how many genes? (1999) (45)
Better performance with bone‐anchored hearing aid than acoustic devices in patients with severe air‐bone gap (2011) (45)
First audiometric results with the Vibrant soundbridge, a semi-implantable hearing device for sensorineural hearing loss. (1999) (45)
A gene for autosomal dominant hearing impairment (DFNA14) maps to a region on chromosome 4p16.3 that does not overlap the DFNA6 locus (1999) (44)
MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation (2007) (44)
Hearing impairment in Dutch patients with connexin 26 (GJB2) and connexin 30 (GJB6) mutations. (2005) (44)
Inherited nonsyndromic hearing loss. An audiovestibular study in a large family with autosomal dominant progressive hearing loss related to DFNA2. (1997) (44)
Fibrous dysplasia of the temporal bone. (1988) (44)
Evaluation of visual impairment in Usher syndrome 1b and Usher syndrome 2a. (2004) (43)
Vestibular Deterioration Precedes Hearing Deterioration in the P51S COCH Mutation (DFNA9): An Analysis in 74 Mutation Carriers (2005) (43)
Bilateral Bone-Anchored Hearing Aid Application in Children: The Nijmegen Experience From 1996 to 2008 (2010) (43)
A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa (2016) (42)
The bone-anchored hearing aid: a solution for previously unresolved otologic problems. (2001) (42)
Audiologic Performance and Benefit of Cochlear Implantation in Usher Syndrome Type I (2006) (42)
Audiometric, Vestibular, and Genetic Aspects of a DFNA9 Family with a G88E COCH Mutation (2005) (42)
Speech recognition scores related to age and degree of hearing impairment in DFNA2/KCNQ4 and DFNA9/COCH. (2001) (42)
Perilymphatic gusher and stapes surgery. A predictable complication? (1983) (41)
Audiometric, surgical, and genetic findings in 15 ears of patients with osteogenesis imperfecta (2009) (41)
Autosomal-dominant branchio-otic (BO) syndrome is not allelic to the branchio-oto-renal (BOR) gene at 8q13. (1998) (41)
Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein. (2009) (41)
Disruption of teashirt zinc finger homeobox 1 is associated with congenital aural atresia in humans. (2011) (40)
A common ancestor for COCH related cochleovestibular (DFNA9) patients in Belgium and The Netherlands bearing the P51S mutation (2001) (40)
Progressive Sensorineural Hearing Loss and Normal Vestibular Function in a Dutch DFNB7/11 Family with a Novel Mutation in TMC1 (2010) (40)
The vestibulo-ocular reflex in pupils at a Dutch school for the hearing impaired; findings relating to acquired causes. (1993) (39)
Non-syndromic autosomal dominant progressive non-specific mid-frequency sensorineural hearing impairment with childhood to late adolescence onset (DFNA21). (2000) (39)
Hearing loss and connexin 26. (2002) (38)
Acoustic neuroma: Correlation among tumor size, symptoms, and patient age (1995) (38)
An autosomal dominant inherited syndrome with congenital stapes ankylosis (1990) (38)
Subjective Benefit After BAHA System Application in Patients With Congenital Unilateral Conductive Hearing Impairment (2008) (38)
Ear and hearing problems in relation to karyotype in children with Turner syndrome (2011) (38)
Genetic aspects of nonchromaffin paraganglioma (2004) (38)
The Bone-Anchored Hearing Aid for children: Recent developments (2008) (37)
Ear surgery in osteogenesis imperfecta. Clinical findings and short-term and long-term results. (1990) (36)
Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer (2008) (36)
Audiometric evaluation of an attempt to optimize the fixation of the transducer of a middle-ear implant to the ossicular chain with bone cement. (2004) (36)
The velo-cardio-facial syndrome: the otorhinolaryngeal manifestations and implications. (1998) (35)
Longitudinal Analysis of Hearing Loss in a Case of Hemosiderosis of the Central Nervous System (2003) (35)
Hearing loss and the Mayer-Rokitansky-Küster-Hauser syndrome. (1994) (35)
Phenotype Determination Guides Swift Genotyping of a DFNA2/KCNQ4 Family With a Hot Spot Mutation (W276S) (2005) (35)
Progression of low-frequency sensorineural hearing loss (DFNA6/14-WFS1). (2003) (35)
Progressive Late-Onset Sensorineural Hearing Loss and Vestibular Impairment with Vertigo (DFNA9/COCH): Longitudinal Analyses in a Belgian Family (2003) (34)
Otological aspects of the earpit-deafness syndrome. (1981) (34)
Pure Tone Hearing Thresholds and Speech Recognition Scores in Dutch Patients Carrying Mutations in the USH2A Gene (2003) (34)
Predictors of future growth of sporadic vestibular schwannomas obtained by history and radiologic assessment of the tumor (2009) (33)
Audiological Results of the Bone-Anchored Hearing Aid HC200: Multicenter Results (1994) (33)
The phenotype of DFNA13/COL11A2: nonsyndromic autosomal dominant mid-frequency and high-frequency sensorineural hearing impairment. (2000) (33)
X-linked mixed deafness syndrome with congenital fixation of the stapedial footplate and perilymphatic gusher (DFN3). (2002) (33)
Microdeletions in patients with gusher-associated, X-linked mixed deafness (DFN3). (1992) (33)
Speech recognition in patients after successful surgery for unilateral congenital ear anomalies (1994) (32)
Serial Audiometry and Speech Recognition Findings in Finnish Usher Syndrome Type III Patients (2005) (32)
The molecular basis of X‐linked deafness type 3 (DFN3) in two sporadic cases: Identification of a somatic mosaicism for a POU3F4 missense mutation (1997) (32)
Air-bone gap in patients with X-linked stapes gusher syndrome. (1995) (31)
Quality of life after gamma knife radiosurgery treatment in patients with a vestibular schwannoma: the patient’s perspective (2009) (30)
No Evidence for Association Between the Renin-Angiotensin-Aldosterone System and Otosclerosis in a Large Belgian-Dutch Population (2009) (30)
Variable Clinical Features in Patients with CDH23 Mutations (USH1D-DFNB12) (2004) (30)
Active Middle Ear Implantation for Patients With Sensorineural Hearing Loss and External Otitis: Long-Term Outcome in Patient Satisfaction (2013) (30)
Short- and long-term results with implantable transcutaneous and percutaneous bone-conduction devices. (1998) (30)
Progressive Fluctuant Hearing Loss, Enlarged Vestibular Aqueduct, and Cochlear Hypoplasia in Branchio-oto-renal Syndrome (2001) (30)
Bone-Anchored Hearing Aid in Patients With Moderate Mental Retardation: Impact and Benefit Assessment (2007) (30)
Familiar non-chromaffinic paragangliomas (glomus tumors). Clinical and genetic aspects (abridged). (1981) (30)
The impact of a syndromal diagnosis on surgery for congenital minor ear anomalies. (1991) (30)
Influence of the thickness of the skin and subcutaneous tissue covering the mastoid on bone-conduction thresholds obtained transcutaneously versus percutaneously. (1994) (29)
Intraoperative Auditory Steady State Response Measurements During Vibrant Soundbridge Middle Ear Implantation in Patients With Mixed Hearing Loss: Preliminary Results (2010) (29)
Renal disorders in the branchio-oto-renal syndrome. (1983) (29)
Congenital aural atresia. A new subclassification and surgical management. (1984) (29)
Hearing loss in the cervico-oculo-acoustic (Wildervanck) syndrome. (1984) (29)
Association between bone mineral density and hearing loss in osteogenesis imperfecta (2012) (29)
Hearing loss in Noonan syndrome. (1976) (29)
Estimated cost-effectiveness of active middle-ear implantation in hearing-impaired patients with severe external otitis. (2006) (29)
The DFNB 31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH 2 A and VLGR 1 (2006) (28)
Teunissen-Cremers Syndrome: A Clinical, Surgical, and Genetic Report (2005) (28)
Inner ear anomalies are frequent but nonobligatory features of the branchio-oto-renal syndrome. (2002) (28)
Autosomal dominant non-syndromal low-frequency sensorineural hearing impairment linked to chromosome 4p16 (DFNA14): statistical analysis of hearing threshold in relation to age and evaluation of vestibulo-ocular functions. (1999) (28)
Familial progressive vestibulocochlear dysfunction caused by a COCH mutation (DFNA9). (2000) (28)
Identification of a novel COCH mutation, G87W, causing autosomal dominant hearing impairment (DFNA9) (2006) (28)
Deafness, ichthyosiform erythroderma, corneal involvement, photophobia and dental dysplasia (1977) (27)
Congenital Oval or Round Window Anomaly With or Without Abnormal Facial Nerve Course: Surgical Results for 15 Ears (2012) (27)
Benefit of Baha in the elderly with single-sided deafness (2013) (27)
Clinical results of percutaneous implants in the temporal bone. (1994) (27)
Histopathologic features of the temporal bone in usher syndrome type I. (2000) (26)
Fitting range of the BAHA Cordelle (2006) (26)
Proximal symphalangism and congenital conductive hearing loss: otologic aspects. (1999) (26)
Recurrent therapy resistant mastoiditis by Mycobacterium cheilonae abscessus, a nontuberculous mycobacterium. (1998) (26)
Genetic disorders of transporters/channels in the inner ear and their relation to the kidney (2004) (26)
Bone-anchored hearing aid implant location in relation to skin reactions. (2009) (26)
The Floating Mass Transducer of the Vibrant Soundbridge Interposed Between the Stapes and Tympanic Membrane After Incus Necrosis (2009) (26)
Gain and maximum output of two electromagnetic middle ear implants: are real ear measurements helpful? (2004) (26)
The gene for Pendred syndrome is located between D7S501 and D7S692 in a 1.7-cM region on chromosome 7q. (1997) (26)
Clinical and Genetic Aspects in Autosomal Dominant Inherited Osteogenesis Imperfecta Type I (1991) (26)
Sex-Related Hearing Impairment in Wolfram Syndrome Patients Identified by Inactivating WFS1 Mutations (2003) (26)
Nonsyndromal Profound Genetic Deafness in Childhood (1991) (25)
Treatment for severe palatoclonus by occlusion of the eustachian tube. (2003) (25)
Audiometric characteristics of a Dutch family linked to DFNA15 with a novel mutation (p.L289F) in POU4F3. (2008) (25)
A novel locus for autosomal dominant non-syndromic hearing loss, DFNA31, maps to chromosome 6p21.3 (2004) (25)
Hearing loss in Pfeiffer's syndrome. (1981) (25)
Non-syndromal autosomal dominant hearing impairment: ongoing phenotypical characterization of genotypes. (1999) (25)
Surgery for congenital stapes ankylosis with an associated congenital ossicular chain anomaly. (1991) (25)
Audiological Evaluation of Affected Members from a Dutch DFNA8/12 (TECTA) Family (2007) (25)
Hearing Loss in the Nonocular Stickler Syndrome Caused by a COL11A2 Mutation (2000) (25)
Hereditary cochleovestibular dysfunction due to a COCH gene mutation (DFNA9): a follow-up study of a family. (2001) (24)
Audiological Characteristics of Some Affected Members of a Dutch DFNA13/COL11A2 Family (2004) (24)
Surgery for congenital anomalies of the middle ear with mobile stapes (2004) (24)
Nonsyndromic Autosomal Dominant Progressive Sensorineural Hearing Loss: Audiologic Analysis of a Pedigree Linked to DFNA2 (1998) (24)
The sex-ratio in childhood deafness, an analysis of the male predominance. (1994) (23)
Congenital stapes ankylosis associated with another ossicular chain anomaly: surgical results in 30 ears. (2011) (23)
Congenital Stapes Ankylosis by Elongation of the Pyramidal Eminence Communication (1986) (23)
The gene for X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) is linked to PGK (1988) (23)
Cross-Sectional Analysis of Hearing Threshold in Relation to Age in a Large Family with Cochleovestibular Impairment Thoroughly Genotyped for DFNA9/COCH (2003) (23)
Speech perception in congenitally, pre‐lingually and post‐lingually deaf children expressed in an equivalent hearing loss value (2008) (23)
Atypical Cogan's Syndrome: An Autoimmune Disease? (1986) (23)
Audiometric Characteristics of USH2a Patients (2009) (23)
Follow‐up after gamma knife radiosurgery for vestibular schwannomas (2011) (23)
The BAHA HC200/300 in comparison with conventional bone conduction hearing aids. (1999) (23)
Conductive hearing loss and bone conduction devices: restored binaural hearing? (2011) (23)
The Baha Softband. A new treatment for young children with bilateral congenital aural atresia. (2008) (23)
Audiologic Phenotype of Osteogenesis Imperfecta: Use in Clinical Differentiation (2012) (23)
Delays in the diagnosis of acoustic neuromas. (1996) (22)
Hearing levels in the Cornelia de Lange syndrome. A report of seven cases. (1989) (22)
Diagnosis and management strategies in congenital atresia of the external auditory canal. Study Group on Otological Malformations and Hearing Impairment. (1999) (22)
Validation of sonotubometry in healthy adults (2006) (21)
Stapes Surgery in Osteogenesis Imperfecta: Results of a New Series (2003) (21)
The super-bass bone-anchored hearing aid compared to conventional hearing aids. Audiological results and the patients' opinions. (1992) (21)
Fluctuant, progressive hearing loss associated with Menière like vertigo in three patients with the Pendred syndrome. (2001) (21)
Visual impairment in Finnish Usher syndrome type III. (2005) (20)
Clinical Characteristics of a Dutch DFNA9 Family with a Novel COCH Mutation, G87W (2006) (20)
Tympanosclerosis in the tympanic membrane: influence on outcome of myringoplasty. (1995) (20)
Autosomal recessive nonsyndromal profound childhood deafness in a large pedigree. Audiometric features of the affected persons and the obligate carriers. (1989) (20)
Radiation therapy for vestibular schwannomas (2012) (20)
Congenital Aural Atresia in 18q Deletion or de Grouchy Syndrome (2003) (20)
Endolymphatic Sac Tumors: Clinical Outcome and Management in a Series of 9 Cases (2011) (20)
Autosomal dominant inherited hearing impairment caused by a missense mutation in COL11A2 (DFNA13). (2001) (20)
DFNA2/KCNQ4 and its manifestations. (2002) (20)
Removal of titanium implants from the temporal bone: histologic findings. (1998) (20)
Ten years of experience with the Ponto bone‐anchored hearing system—A systematic literature review (2020) (20)
Rehabilitation of Patients with Conductive Hearing Loss and Moderate Mental Retardation by Means of a Bone-Anchored Hearing Aid (2006) (20)
The ins and outs of X-linked deafness type 3. (2000) (20)
Genetic Hearing Impairment: Its Clinical Presentations (2002) (20)
DFNA9/COCH and its phenotype. (2002) (19)
Proximal symphalangia and stapes ankylosis. (1985) (19)
Bone-anchored hearing aids in patients with sensorineural hearing loss and persistent otitis externa. (1995) (19)
Cochleovestibular and Ocular Features in a Dutch DFNA11 Family (2006) (19)
Bilateral Bone Conduction Devices: Improved Hearing Ability in Children With Bilateral Conductive Hearing Loss (2013) (19)
Audiologic Results for the Bone‐Anchored Hearing Aid HC220 (1994) (19)
Genetic heterogeneity of Usher syndrome type II in a Dutch population. (1996) (19)
Translabyrinthine and transotic surgery for acoustic neuroma. (1994) (18)
Usher's syndrome, temporal bone pathology. (1988) (18)
Glomus tumours and genomic imprinting: influence of inheritance along the paternal or maternal line. (1997) (18)
Interferons and bronchogenic carcinoma in juvenile laryngeal papillomatosis. (1983) (18)
Congenital pre-auricular fistual communicating with the tympanic cavity (1983) (17)
Autosomal Dominant Low-Frequency Hearing Impairment (DFNA6/14): A Clinical and Genetic Family Study (2002) (17)
Analysis of factors predicting the success of the bone conduction device headband trial in patients with single-sided deafness. (2012) (17)
Hearing loss in the Saethre-Chotzen syndrome (1996) (17)
Mapping of the choroideremia-like (CHML) gene at 1q42-qter and mutation analysis in patients with Usher syndrome type II. (1994) (17)
Mitochondrial inherited hearing loss. (1998) (17)
Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis (2018) (17)
Similar gene expression profiles of sporadic, PGL2-, and SDHD-linked paragangliomas suggest a common pathway to tumorigenesis (2009) (16)
Early-onset sensorineural hearing loss and late-onset neurologic complaints caused by a mitochondrial mutation at position 7472. (1998) (16)
Temporal bone imaging in osteogenesis imperfecta patients with hearing loss (2013) (16)
Proximal Symphalangism, Hyperopia, Conductive Hearing Impairment, and the NOG Gene: 2 New Mutations (2011) (16)
Bone‐anchored hearing implants in single‐sided deafness patients: Long‐term use and satisfaction by gender (2015) (16)
Camurati-Engelmann disease presenting as 'juvenile otosclerosis'. (1996) (16)
A Dutch family with hearing loss linked to the DFNA20/26 locus: longitudinal analysis of hearing impairment. (2004) (16)
Stapedial ankylosis in the Mayer-Rokitansky-Küster-Hauser syndrome. (1995) (16)
Stapes Surgery in Osteogenesis Imperfecta: Retrospective Analysis of 34 Operated Ears (2012) (16)
A new more powerful bone-anchored hearing aid: first results. (1998) (16)
Isolated congenital stapes ankylosis: surgical results in a consecutive series of 39 ears. (2010) (15)
Molecular Genetics of X‐Linked Hearing Impairment (1991) (15)
Osteoma of the middle ear (1985) (15)
Audiometric profiles associated with genetic nonsyndromal hearing impairment: a review and phenotype analysis (2007) (15)
Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin (2010) (15)
Treatment of Juvenile Laryngeal Papillomatosis with Two Types of Interferon (1982) (15)
Flat Threshold and Mid-Frequency Hearing Impairment in a Dutch DFNA8/12 Family with a Novel Mutation in TECTA (2008) (14)
Ophthalmologic findings in Usher syndrome type 2A. (1995) (14)
Mandibulofacial dysostosis: CT findings of the temporal bones. (1995) (14)
Hearing Loss and Connexin 26 (2002) (14)
Reproducibility of sonotubometry as Eustachian tube ventilatory function test in healthy children. (2007) (14)
Familial Aggregation of Pure Tone Hearing Thresholds in an Aging European Population (2013) (14)
Development and Developmental Disorders of the Brain Stem (2006) (14)
Amplification Options in Unilateral Aural Atresia: An Active Middle Ear Implant or a Bone Conduction Device? (2014) (13)
The Nathalie syndrome. A new hereditary syndrome (1975) (13)
The deafness, pre-auricular sinus, external ear anomaly and commissural lip pits syndrome – otological, vestibular and radiological findings (1994) (13)
Treatment of Juvenile laryngeal papillomatosis with two types of interferon. (1982) (13)
No evidence of hearing loss in pseudohypoaldosteronism type 1 patients (2006) (13)
An approach to the causes of early childhood deafness. (1978) (13)
Narrowing the genetic interval and yeast artificial chromosome map in the branchio-oto-renal region on chromosome 8q. (1996) (13)
A spontaneous otogenic extradural pneumocephalus. (2009) (13)
Evaluation of the subjective effect of middle ear implantation in hearing-impaired patients with severe external otitis. (2007) (13)
DFNA10/EYA4--the clinical picture. (2002) (12)
Meatal atresia and hearing loss. Autosomal dominant and autosomal recessive inheritance. (1985) (12)
Vibrant Soundbridge Surgery in Patients With Severe External Otitis: Complications of a Transcanal Approach (2011) (12)
A RIPOR2 in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss (2019) (12)
Clinical presentation of the DFNA loci where causative genes have not yet been cloned. DFNA4, DFNA6/14, DFNA7, DFNA16, DFNA20 and DFNA21. (2002) (12)
Implantable hearing devices for sensorineural hearing loss: a review of the audiometric data. (1998) (12)
A Dutch family with progressive sensorineural hearing impairment linked to the DFNA2 region (2000) (12)
Gamma knife radiosurgery for vestibular schwannomas: Identification of predictors for continued tumor growth and the influence of documented tumor growth preceding radiation treatment (2011) (12)
A Review of Progressive Phenotypes in Nonsyndromic Autosomal Dominant Hearing Impairment (2003) (12)
Longitudinal Phenotypic Analysis in Patients with Connexin 26 (GJB2) (DFNB1) and Connexin 30 (GJB6) Mutations (2004) (12)
Non-syndromic autosomal dominant sensorineural hearing loss: a new field of research. (1998) (11)
Clinical findings in obligate carriers of type I Usher syndrome. (1995) (11)
Vertical corneal striae in families with autosomal dominant hearing loss: DFNA9/COCH. (2007) (11)
Aided free-field thresholds in children with conductive hearing loss fitted with air- or bone-conduction hearing aids. (1994) (11)
Evidence of progression and fluctuation of hearing impairment in branchio-oto-renal syndrome (2004) (11)
Bilateral conductive hearing impairment with hyperostosis of the temporal bone: a new finding in Robinow syndrome. (2012) (11)
The phenotype of DFNA13/COL11A2. (2001) (11)
Semen Analysis in the Usher Syndrome Type 2A (1999) (10)
Congenital conductive hearing loss in the lacrimoauriculodentodigital syndrome. (1997) (10)
Percutaneous titanium implantation in the skull for the bone-anchored hearing aid. (1994) (10)
Novel coding‐region polymorphisms in mitochondrial seryl‐tRNA synthetase (SARSM) and mitoribosomal protein S12 (RPMS12) genes in DFNA4 autosomal dominant deafness families (2001) (10)
A Dutch family with progressive autosomal dominant non-syndromic sensorineural hearing impairment linked to DFNA13. (2001) (10)
Stickler syndrome type I and Stapes ankylosis. (2004) (10)
Sonotubometry: a useful tool to measure intra-individual changes in eustachian tube ventilatory function. (2007) (10)
How to prevent a stapes gusher. (2007) (10)
Autosomal recessive non-syndromal progressive sensorineural deafness in childhood. A separate clinical and genetic entity. (1979) (10)
Vestibular Impairment in a Dutch DFNA15 Family with an L289F Mutation in POU4F3 (2009) (10)
Renal tubular acidosis and sensorineural deafness: an autosomal recessive syndrome. (1980) (10)
The bone-anchored hearing aid and the air conduction hearing aid compared (1997) (10)
Acoustic Neuroma Ingrowth in the Cochlear Nerve: Does it Influence the Clinical Presentation? (2004) (9)
Clinical features of DFNA5. (2002) (9)
Unilateral hearing loss due to a rhabdomyoma in a six-year-old child (1995) (9)
Sonotubometry in children with otitis media with effusion before and after insertion of ventilation tubes. (2009) (9)
[From gene to disease; genetic causes of hearing loss and visual impairment sometimes accompanied by vestibular problems (Usher syndrome)]. (2002) (9)
Pendred syndrome redefined. Report of a new family with fluctuating and progressive hearing loss. (2002) (9)
Refining the region of branchio-oto-renal syndrome and defining the flanking markers on chromosome 8q by genetic mapping. (1994) (9)
The Usher syndrome type 2A: clinical findings in obligate carriers. (1995) (9)
Suboccipital surgery for acoustic neuroma. (1996) (9)
Sensorineural Hearing Loss and Pili Torti (1979) (9)
Hearing impairment in Usher's syndrome. (2002) (9)
Successful methotrexate therapy in oral florid papillomatosis. (1980) (9)
Age-Related Use and Benefit of the Bone-Anchored Hearing Aid Compact (2009) (8)
Carriers of the Usher type IB : Is audiometric identification possible? (1996) (8)
Phenotype of the first otosclerosis family linked to OTSC10 (2011) (8)
Two siblings with progressive, fluctuating hearing loss after head trauma, treated with cochlear implantation (2009) (8)
Fibrous dyslasia of the temporal bone (1988) (8)
Effect of Exogenous Surfactant on Ventilatory and Clearance Function of the Rat's Eustachian Tube (2003) (7)
The Phenotype of the First Otosclerosis Family Linked to OTSC5 (2006) (7)
[From gene to disease; a progressive cochlear-vestibular dysfunction with onset in middle-age (DFNA9)]. (2005) (7)
Autosomal recessive progressive high-frequency sensorineural deafness in childhood. (1987) (7)
Treacher-Collins syndrome. Management of major and minor anomalies of the ear. (1995) (7)
Identification of two PAX3 mutations causing waardenburg syndrome, one within the paired domain (M62V) and the other downstream of the homeodomain (Q282X) (1998) (7)
Congenital Conductive Hearing Loss in Dyschondrosteosis (2003) (6)
Genetic heterogeneity associated with branchio-oto-renal syndrome. (1999) (6)
Clinical features in 130 patients with the velo-cardio-facial syndrome. The Leuven experience. (2001) (6)
Acquired Causes of Deafness in Childhood (1991) (6)
The Treacher Collins syndrome. Management of major and minor anomalies. (1995) (6)
Sound localization with bilateral bone conduction devices (2021) (6)
Audiologic features of the X-linked progressive mixed deafness syndrome with perilymphatic gusher during stapes gusher. (1985) (6)
Developmental aspects of the rat endolymphatic sac and functional implications. (2001) (6)
Cost-effectiveness of implantable middle ear hearing devices. (2010) (5)
Hearing: cracking the code (2000) (5)
Phenotype description of a Dutch otosclerosis family with suggestive linkage to OTSC7 (2007) (5)
A new type of maxillofacial dysostosis, inherited as an X-linked or autosomal recessive trait. (1997) (5)
Autosomal dominant isolated velopharyngeal insufficiency (2002) (5)
Progressive Sensorineural Hearing Impairment in Maternally Inherited Diabetes Mellitus and Deafness (MIDD) (2006) (5)
Malleostapedotomy with the self-fixing and articulated titanium piston (2018) (4)
A European multicenter study into age-related hearing impairment: Occupational noise, smoking and high BMI are risk factors and moderate akcohol consumption is protective. (2008) (4)
Surgery for acquired atresia of the external ear canal. (2002) (4)
Audiology and Neurotology (2005) (4)
Carriers of the Usher syndrome type IB: is audiometric identification possible? (1996) (4)
Surgical treatment of congenital aural atresia. (1985) (3)
The clinical spectrum of maternally transmitted hearing loss. (2002) (3)
Fine mapping of autosomal dominant nonsyndromic hearing impairment DFNA21 to chromosome 6p24.1‐22.3 (2005) (3)
Branchial cysts, sinuses and fistulae. (1979) (3)
Unchanged unilateral hearing loss and ipsilateral growth of an acoustic neuroma from 1 to 4 cm (1993) (3)
Velo-cardio-facial syndrome: guidelines for diagnosis, treatment and follow-up of ent manifestations. (2003) (3)
Early onset maternal inherited hearing loss with late onset neurological symptoms present in a three generation Dutch family. (1996) (2)
Frequency resolution after successful surgery in congenital ear anomalies. (1991) (2)
Gene linkage and genetic deafness. (1995) (2)
Non-syndromic dominant sensorineural hearing loss: from a few phenotypes to many genotypes. (1997) (2)
[A hearing aid anchored in the cranial bone for amplification of bone conduction]. (1991) (2)
Head trauma as eliciting event in transient deterioration of sensorineural hearing loss and vertigo in Pendred/EVA syndrome (2008) (2)
Prevention of Serious Hearing Impairment or Deafness in the Young Child (1989) (2)
[From gene to disease; mutations in the WFS1-gene as the cause of juvenile type I diabetes mellitus with optic atrophy (Wolfram syndrome)]. (2002) (2)
[Familial glomus tumors: clinical and genetic aspects]. (1981) (2)
Subcortical Optokinetic Response in a case of Thalidomide Fetopathy (1991) (2)
An additional classification for congenital aural atresia. Its impact on the predictability of surgical results. (1987) (2)
[From gene to disease: deafness and connexin 26]. (2002) (2)
Mosaic trisomy 8 as a cause of velopharyngeal insufficiency. (2002) (2)
[From gene to disease; DFNA8/12, an autosomal dominant inherited bowl-shaped sensorineural hearing impairment]. (2007) (1)
Clinical Features of (2002) (1)
Response to letter to the editor concerning: Bone-anchored hearing implant loading at three weeks: stability and tolerability after six months. (2014) (1)
Letter to the Editor (2003) (1)
Genetic hearing loss. Past and future. (1995) (1)
A novel skeletal disorder characterized by progressive spondyloarthropathy is caused by a recessive ANKH mutation (2011) (1)
Surgery in congenital aural atresia. (1985) (1)
The cochlear nuclei in two patients with Usher syndrome type I. (1999) (1)
Clinical results of auricular prosthesis in Nijmegen (1996) (1)
Acoustic neuroma surgery in Nijmegen. (1984) (1)
Early identification of hearing loss (1976) (1)
[Cholesteatoma in the medial part of the petrous bone and the modified transotic approach]. (1985) (1)
[Deafness and hypacusis combined with branchiogenic and sometimes renal congenital abnormalities]. (1977) (1)
POU3F4 and Mixed Deafness With Temporal Bone Defect (DFNX2) (2016) (1)
Sialotorrhea: A manifestation of first‐branchial‐cleft anomaly? (1979) (1)
Otological aspects and surgical outcome in a consanguineous family with a novel ANKH gene mutation. (2013) (1)
Clinical Follow-Up and Histopathology of the Temporal Bones in Nathalie Syndrome (2012) (1)
The X-recessive progressive, mixed deafness syndrome with perilymphatic gusher during stapes surgery (DFN 3) (1996) (1)
The branchio-oto-renal syndrome. (2002) (1)
[Pendred's syndrome]. (1977) (0)
Physical mapping and isolation of candidate genes surrounding the BOR locus on human chromosome 8q13 (1996) (0)
Letter: Hearing loss in Noonan syndrome. (1976) (0)
[Familial occurrence of glomus tumors; clinical and genetic aspects]. (1981) (0)
Book Review and Announcement (1999) (0)
Early onset inherited hearing loss and late onset neurological complaints with maternal inheritance (1997) (0)
Mayer-Rokitansky-K\l=u"\ster-HauserSyndrome (2016) (0)
Chapter 37 – The Branchio-oto-renal Syndrome (2009) (0)
Translabyrinthine Cochleovestibular Neurectomy (1984) (0)
Otolaryngologic manifestations of a Stickler syndrome linked to chromosome 6 near the COL 11A2 gene. (1996) (0)
Autosomal dominant nonsyndromic sensorineural hearing impairment (2008) (0)
[From gene to disease; non-syndromic, autosomal dominant, low-frequency sensorineural hearing loss (DFNA6/14)]. (2003) (0)
[Ear canal atresia, to operate or not?]. (1983) (0)
Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis (2018) (0)
Erratum: Mutations in different components of FGF signaling in LADD syndrome (2006) (0)
Audiological results of the superbass HC 220. (1996) (0)
[Surgical treatment for chronic otitis externa]. (1991) (0)
Hearing Results of Surgery for Acquired Atresia of the External Auditory Canal. (2019) (0)
A mitochondrial point mutation at position 7472 causes early onset hearing impairment and late onset neurological symptoms: report of a Dutch family and a comparison with a Sicilian family (1998) (0)
Audiological results of the "superbass" Bone Anchored Hearing Aid HC220, multicenter results. (1995) (0)
Health-Economic evaluation of implantable hearing devices. (2010) (0)
Baroreflex failure after surgical removal of bilateral carotid body tumours (2000) (0)
[Osteogenesis imperfecta tarda and stapes surgery]. (1985) (0)
[Stapes ankylosis as a symptom of autosomal dominant symphalangia]. (1984) (0)
Usher syndroom: van gen naar pathogenese. (2009) (0)
Audiologic and genetic characterization of hearing loss in Osteogenesis Imperfecta (2008) (0)
Audiologic results with the bone anchored hearing aid, a comparison with air conduction hearing aids. (1996) (0)
[Meningitis as cause of prelingual deafness]. (1989) (0)
Audiologic and genetic determination of hearing loss in osteogenesis imperfecta (2012) (0)
[Prevention of severe hard-of-hearing or deafness in young children]. (1987) (0)
[Tympanoplasty using preserved tympanic membranes]. (1987) (0)
Translabyrinthine cochleovestibular neurectomy. Indications and results. (1984) (0)
[Stereotaxic irradiation of vestibular schwannoma (acoustic neurinoma)]. (2001) (0)
Non-syndromal autosomal dominant hearing loss. (1997) (0)
[X-recessive hereditary progressive mixed hypoacusis with excessive discharge of perilymph during stapes surgery]. (1983) (0)
Bone anchored hearing aid (BAHA) and Vibrant Soundbridge (Symphonix) and Otologics MET (1990) (0)
[Retrospective study of the cause of deafness in 60 students at the Institute for the Deaf and 33 of their deaf relatives]. (1977) (0)
Title Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients (2007) (0)
[Cochlear implants]. (1987) (0)
Initial results: Vibrant Soundbridge. (1998) (0)
Conductive hearing loss and autosomal dominant proximal symphalangism (1985) (0)
Audiologic characteristics of patients with the X-linked stapes gusher syndrome (1996) (0)
[Turner syndrome in adulthood]. (2007) (0)
Management of hearing loss: surgery (incudostapedotomy and malleostapedotomy) and outcome of the procedure (2008) (0)
A family with autosomal dominant inherited dysmorphic small auricles, lip pits, and congenital conductive hearing impairment. (2000) (0)
A gene for hereditary non-chromaffin paragangliomas, a disorder subject to genomic imprinting, maps at 11q13.1 (1996) (0)
MULTICENTER AUDIOMETRIC RESULTS WITH THE VIBRANT SOUNDBRIDGE,* A DEVICE FOR SENSORINEURAL HEARING IMPAIRMENT SEMI-IMPLANTABLE HEARING (2001) (0)
Proximal Symphalangia and (2017) (0)
Chapter 6 Gene expression of head and neck paragangliomas (2012) (0)
Head trauma as eliciting event for transient increased deterioration od sensorineural hearing loss and vertigo in Pendred/EVA syndrome. (2008) (0)
Different types of rat endolymphatic sac mitochondria-rich cells. (2002) (0)
[Tinnitus rendered objective]. (1986) (0)
Pediatric otology : International Symposium on Pediatric Otology, Nijmegen, April 23-25, 1987 (1988) (0)
[Disorders of the cerebellopontile angle]. (1985) (0)

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