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Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11).
- Published in:
- Human Genetics, 2004, v. 115, n. 2, p. 149, doi. 10.1007/s00439-004-1137-3
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- Article
Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations.
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- Human Genetics, 2002, v. 110, n. 5, p. 389, doi. 10.1007/s00439-002-0719-1
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- Article
Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations.
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- 2011
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- Publication type:
- journal article
Improved horizontal directional hearing in bone conduction device users with acquired unilateral conductive hearing loss.
- Published in:
- 2011
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- Publication type:
- journal article
Genetic disorders of transporters/channels in the inner ear and their relation to the kidney.
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- Pediatric Nephrology, 2004, v. 19, n. 11, p. 1194, doi. 10.1007/s00467-004-1626-6
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- Publication type:
- Article
Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer.
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- European Journal of Human Genetics, 2008, v. 16, n. 12, p. 1430, doi. 10.1038/ejhg.2008.110
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- Article
A seventh locus for otosclerosis, OTSC7, maps to chromosome 6q13–16.1.
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- European Journal of Human Genetics, 2007, v. 15, n. 3, p. 362, doi. 10.1038/sj.ejhg.5201761
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- Article
Hearing loss and connexin 26.
- Published in:
- 2002
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- Publication type:
- journal article
Hearing loss and connexin 26.
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- Journal of the Royal Society of Medicine, 2002, v. 95, n. 4, p. 171, doi. 10.1177/014107680209500403
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- Article
Clinical follow-up and histopathology of the temporal bones in Nathalie syndrome.
- Published in:
- 2012
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- Publication type:
- Journal Article
Stapes surgery in osteogenesis imperfecta: retrospective analysis of 34 operated ears.
- Published in:
- 2012
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- Publication type:
- Journal Article
Progressive Sensorineural Hearing Loss and Normal Vestibular Function in a Dutch DFNB7/11 Family with a Novel Mutation in TMC1.
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- Audiology & Neurotology, 2011, v. 16, n. 2, p. 93, doi. 10.1159/000313282
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- Article
Vestibular Impairment in a Dutch DFNA15 Family with an L289F Mutation in POU4F3.
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- Audiology & Neurotology, 2009, v. 14, n. 5, p. 303, doi. 10.1159/000212109
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- Publication type:
- Article
Clinical Characteristics of a Dutch DFNA9 Family with a Novel COCH Mutation, G87W.
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- Audiology & Neurotology, 2007, v. 12, n. 2, p. 77, doi. 10.1159/000097794
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- Publication type:
- Article
Does the Bone-Anchored Hearing Aid Have a Complementary Effect on Audiological and Subjective Outcomes in Patients with Unilateral Conductive Hearing Loss?
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- Audiology & Neurotology, 2005, v. 10, n. 3, p. 159, doi. 10.1159/000084026
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- Publication type:
- Article
Association of Bone Morphogenetic Proteins With Otosclerosis.
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- Journal of Bone & Mineral Research, 2008, v. 23, n. 4, p. 507, doi. 10.1359/JBMR.071112
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- Article
Erratum: Mutations in different components of FGF signaling in LADD syndrome.
- Published in:
- 2006
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- Publication type:
- Correction notice
Mutations in different components of FGF signaling in LADD syndrome.
- Published in:
- Nature Genetics, 2006, v. 38, n. 4, p. 414, doi. 10.1038/ng1757
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- Publication type:
- Article
Molecular Genetics of X-Linked Hearing Impairment.
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- Annals of the New York Academy of Sciences, 1991, v. 630, n. 1, p. 176, doi. 10.1111/j.1749-6632.1991.tb19586.x
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- Article
Acquired Causes of Deafness in Childhood.
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- Annals of the New York Academy of Sciences, 1991, v. 630, n. 1, p. 197, doi. 10.1111/j.1749-6632.1991.tb19588.x
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- Publication type:
- Article
Clinical and Genetic Aspects in Autosomal Dominant Inherited Osteogenesis Imperfecta Type I.
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- Annals of the New York Academy of Sciences, 1991, v. 630, n. 1, p. 240, doi. 10.1111/j.1749-6632.1991.tb19594.x
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- Publication type:
- Article
A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects.
- Published in:
- Human Molecular Genetics, 1999, v. 8, n. 2, p. 361, doi. 10.1093/hmg/8.2.361
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- Publication type:
- Article
Two frequent missense mutations in Pendred syndrome.
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- Human Molecular Genetics, 1998, v. 7, n. 7, p. 1099, doi. 10.1093/hmg/7.7.1099
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- Publication type:
- Article
Identification of a Hot Spot for Microdeletions in Patients with X-linked Deafness Type 3 (DFN3) 900 kb Proximal to the DFN3 gene POU3F4.
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- Human Molecular Genetics, 1996, v. 5, n. 9, p. 1229, doi. 10.1093/hmg/5.9.1229
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- Publication type:
- Article
Autosomal dominant branchio-oto-renal syndrome—localization of a disease gene to chromosome 8q by linkage in a Dutch family.
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- Human Molecular Genetics, 1992, v. 1, n. 7, p. 491
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- Publication type:
- Article
SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR.
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- Human Mutation, 2008, v. 29, n. 4, p. 565, doi. 10.1002/humu.20714
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- Publication type:
- Article
Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome.
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- Human Mutation, 1998, v. 11, n. 6, p. 443, doi. 10.1002/(SICI)1098-1004(1998)11:6<443::AID-HUMU4>3.0.CO;2-S
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- Publication type:
- Article
The molecular basis of X-linked deafness type 3 (DFN3) in two sporadic cases: Identification of a somatic mosaicism for a POU3F4 missense mutation.
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- Human Mutation, 1997, v. 10, n. 3, p. 207, doi. 10.1002/(SICI)1098-1004(1997)10:3<207::AID-HUMU5>3.0.CO;2-F
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- Publication type:
- Article
Audiometric Evaluation of Bilaterally Fitted Bone-anchored Hearing Aids.
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- Audiology: Journal of Auditory Communication, 2001, v. 40, n. 3, p. 158, doi. 10.3109/00206090109073111
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- Publication type:
- Article
Bone-anchored hearing implants in single-sided deafness patients: Long-term use and satisfaction by gender.
- Published in:
- 2015
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- Publication type:
- journal article
Temporal bone imaging in osteogenesis imperfecta patients with hearing loss.
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- Laryngoscope, 2013, v. 123, n. 8, p. 1988, doi. 10.1002/lary.23963
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- Publication type:
- Article
Association between bone mineral density and hearing loss in osteogenesis imperfecta.
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- Laryngoscope, 2012, v. 122, n. 2, p. 401, doi. 10.1002/lary.22408
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- Publication type:
- Article
Gamma knife radiosurgery for vestibular schwannomas: Identification of predictors for continued tumor growth and the influence of documented tumor growth preceding radiation treatment.
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- Laryngoscope, 2011, v. 121, n. 9, p. 1834, doi. 10.1002/lary.21908
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- Article
Phenotype of the first otosclerosis family linked to OTSC10.
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- Laryngoscope, 2011, v. 121, n. 4, p. 838, doi. 10.1002/lary.21463
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- Publication type:
- Article
Better performance with bone-anchored hearing aid than acoustic devices in patients with severe air-bone gap.
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- Laryngoscope, 2011, v. 121, n. 3, p. 613, doi. 10.1002/lary.21167
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- Article
Audiometric, surgical, and genetic findings in 15 ears of patients with osteogenesis imperfecta.
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- Laryngoscope, 2009, v. 119, n. 6, p. 1171, doi. 10.1002/lary.20155
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- Publication type:
- Article
Gamma knife radiosurgery for vestibular schwannomas: Results of hearing preservation in relation to the cochlear radiation dose.
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- Laryngoscope, 2009, v. 119, n. 6, p. 1076, doi. 10.1002/lary.20245
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- Publication type:
- Article
Audiological Application Criteria for Implantable Hearing Aid Devices: A Clinical Experience at the Nijmegen ORL Clinic.
- Published in:
- Laryngoscope, 2008, v. 118, n. 9, p. 1645, doi. 10.1097/MLG.0b013e31817b013a
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- Publication type:
- Article
Similar gene expression profiles of sporadic, PGL2-, and SDHD-linked paragangliomas suggest a common pathway to tumorigenesis.
- Published in:
- BMC Medical Genomics, 2009, v. 2, p. 1, doi. 10.1186/1755-8794-2-25
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- Article
Osteogenesis Imperfecta: the audiological phenotype lacks correlation with the genotype.
- Published in:
- 2011
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- Publication type:
- journal article
Congenital Ossicular Chain Anomalies Associated With a Mobile Stapes Footplate: Surgical Results for 23 Ears.
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- Annals of Otology, Rhinology & Laryngology, 2012, v. 121, n. 4, p. 275, doi. 10.1177/000348941212100414
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- Publication type:
- Article
Prediction of Vestibular Schwannoma Growth: A Novel Rule Based on Clinical Symptomatology.
- Published in:
- 2011
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- Publication type:
- Journal Article
Prediction of Vestibular Schwannoma Growth: A Novel Rule Based on Clinical Symptomatology.
- Published in:
- Annals of Otology, Rhinology & Laryngology, 2011, v. 120, n. 12, p. 807, doi. 10.1177/000348941112001206
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- Publication type:
- Article
Phenotype Analysis of an Australian DFNA9 Family With the I109N COCH Mutation.
- Published in:
- 2011
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- Publication type:
- Journal Article
Fitting of an 8.5-Millimeter Abutment for Bone Conduction Devices: Indications and Postintervention Course.
- Published in:
- 2011
- By:
- Publication type:
- Journal Article
Phenotype Analysis of an Australian DFNA9 Family With the I109N COCH Mutation.
- Published in:
- Annals of Otology, Rhinology & Laryngology, 2011, v. 120, n. 6, p. 414, doi. 10.1177/000348941112000612
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- Publication type:
- Article
Fitting of an 8.5-Millimeter Abutment for Bone Conduction Devices: Indications and Postintervention Course.
- Published in:
- Annals of Otology, Rhinology & Laryngology, 2011, v. 120, n. 6, p. 386, doi. 10.1177/000348941112000607
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- Publication type:
- Article
Audioprofile-Directed Successful Mutation Analysis in a DFNA2/KCNQ4 (p.Leu274His) Family.
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- Annals of Otology, Rhinology & Laryngology, 2011, v. 120, n. 4, p. 243, doi. 10.1177/000348941112000405
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- Publication type:
- Article
Phenotypes of Two Dutch DFNA3 Families With Mutations in GJB2.
- Published in:
- Annals of Otology, Rhinology & Laryngology, 2011, v. 120, n. 3, p. 191, doi. 10.1177/000348941112000308
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- Publication type:
- Article
Clinical Presentation and the Presence of Hearing Impairment in Branchio-oculo-facial Syndrome: A New Mutation in the TFAP2A Gene.
- Published in:
- Annals of Otology, Rhinology & Laryngology, 2010, v. 119, n. 12, p. 806, doi. 10.1177/000348941011901204
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- Publication type:
- Article