Results 101 to 110 of about 514 (125)

Clinical exome sequencing for carrier screening in assisted reproductive technology and sperm donation. [PDF]

J Assist Reprod Genet
Cai H, Bai H, Qiao S, Xue X, Shi W, Shi J.   +5 more
europepmc   +1 more source

Update on diagnostic procedures in third window syndromes. [PDF]

HNO
Dlugaiczyk J, Rösch S, Mantokoudis G.
europepmc   +1 more source

Etiology-Driven Personalized Cochlear Implantation: Implications for Electrode Choice, Timing, and Outcomes. [PDF]

J Pers Med
Kim CH, Choi BY.
europepmc   +1 more source

Tectorial membrane: structure, function, and its implications for hearing loss. [PDF]

Front Neurol
Bian P, Dang J, Xu BC.
europepmc   +1 more source

Early Postoperative Benefits in Receptive and Expressive Language Development After Cochlear Implantation Under 9 Months of Age in Comparison to Implantation at Later Ages. [PDF]

Clin Exp Otorhinolaryngol
Lee SJ, Oh H, Shin KH, Park SM, Kim YK, Jung DH, Yang J, Chun Y, Kim MY, Han JH, Kim JA, Tran NT, Kim BJ, Choi BY.   +13 more
europepmc   +1 more source

Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations

American Journal of Medical Genetics, Part A, 2004
Mutations in SLC26A4 cause Pendred syndrome, an autosomal-recessive disorder characterized by sensorineural deafness and goiter, and DFNB4, a type of autosomal recessive nonsyndromic deafness in which, by definition, affected persons do not have ...
Guy Van Camp, Richard J Smith, Sai Prasad   +2 more
exaly   +2 more sources

Transcriptional Control of SLC26A4 Is Involved in Pendred Syndrome and Nonsyndromic Enlargement of Vestibular Aqueduct (DFNB4) [PDF]

American Journal of Human Genetics, 2007
Although recessive mutations in the anion transporter gene SLC26A4 are known to be responsible for Pendred syndrome (PS) and nonsyndromic hearing loss associated with enlarged vestibular aqueduct (EVA), also known as “DFNB4,” a large percentage of ...
Tao Yang, Richard J Smith, Sven Enerbäck   +2 more
exaly   +2 more sources

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Clinical heterogeneity of the gene in UAE patients with hearing loss and bioinformatics investigation of DFNB4/Pendred syndrome missense mutations

International Journal of Pediatric Otorhinolaryngology, 2021
Abdelaziz Tlili, Mona Mahfood, Jihen Chouchen   +2 more
exaly  

DFNB49 is an important cause of non-syndromic deafness in Czech Roma patients but not in the general Czech population

Clinical Genetics, 2012
M Trkova
exaly