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Human Genetics|January 11, 2003
Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one familyArjan P M de Brouwer, Ronald J E Pennings, Marjolijn Roeters, et al.Journal of Medical Genetics|July 8, 2020
A RIPOR2 in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing lossSuzanne E de Bruijn, Jeroen J Smits, Chang Liu, et al.Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [And] European Academy of Otology and Neurotology|April 1, 2011
Endolymphatic sac tumors: clinical outcome and management in a series of 9 casesFerdinand C A Timmer, Luud J Neeskens, Lund J Neeskens, et al.Human Genetics|June 20, 2002
Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutationsKim Cryns, Markus Pfister, Ronald J E Pennings, et al.Nature Genetics|February 28, 2006
Mutations in different components of FGF signaling in LADD syndromeEdyta Rohmann, Han G Brunner, Hülya Kayserili, et al.Ophthalmology|March 2, 2016
Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis PigmentosaLaurence H M Pierrache, Bas P Hartel, Erwin van Wijk, et al.Human Mutation|June 6, 2006
Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing lossErsan Kalay, Yun Li, Abdullah Uzumcu, et al.American Journal of Human Genetics|January 9, 2008
Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35Rob W J Collin, Ersan Kalay, Muhammad Tariq, et al.American Journal of Human Genetics|September 2, 2008
Genome-wide SNP-based linkage scan identifies a locus on 8q24 for an age-related hearing impairment traitJeroen R Huyghe, Lut Van Laer, Jan-Jaap Hendrickx, et al.The Lancet. Oncology|January 15, 2010
SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytomaJean-Pierre Bayley, Henricus P M Kunst, Alberto Cascon, et al.Pageof 18