Results 101 to 110 of about 244,526 (128)

PALM3 and hearing loss: a potential dual diagnosis interfering with novel gene discovery

Najarzadeh Torbati P, Hallbrucker L, Hofrichter MA, Owrang D, Setzke J, Kilimann MW, Hemmatpour A, Rajati M, Karimiani EG, Haaf T, Vogl C, Vona B.   +11 more
europepmc   +1 more source

Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness. [PDF]

PLoS One, 2014
Riahi Z, Bonnet C, Zainine R, Louha M, Bouyacoub Y, Laroussi N, Chargui M, Kefi R, Jonard L, Dorboz I, Hardelin JP, Salah SB, Levilliers J, Weil D, McElreavey K, Boespflug OT, Besbes G, Abdelhak S, Petit C.   +18 more
europepmc   +1 more source

Avtentično vodenje: kako osebna zapuščina, izobrazba in identiteta prispevajo k ravni edinstvene vizije

, 2017
Loci, Sokol
core  

CRISPR-free RNA base editing mediated PTC-readthrough restores hearing in mice with Otof nonsense mutation. [PDF]

Nat Commun
Sun H, Teng Q, Liu W, Guo R, Li M, Xiong W, Huang Q, Yu Q, Luo N, Li Y, Song J, Gong S, Shi X, Yi C, Liu K.   +14 more
europepmc   +1 more source

A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction. [PDF]

Nat Commun, 2017
Bowl MR, Simon MM, Ingham NJ, Greenaway S, Santos L, Cater H, Taylor S, Mason J, Kurbatova N, Pearson S, Bower LR, Clary DA, Meziane H, Reilly P, Minowa O, Kelsey L, International Mouse Phenotyping Consortium, Tocchini-Valentini GP, Gao X, Bradley A, Skarnes WC, Moore M, Beaudet AL, Justice MJ, Seavitt J, Dickinson ME, Wurst W, de Angelis MH, Herault Y, Wakana S, Nutter LMJ, Flenniken AM, McKerlie C, Murray SA, Svenson KL, Braun RE, West DB, Lloyd KCK, Adams DJ, White J, Karp N, Flicek P, Smedley D, Meehan TF, Parkinson HE, Teboul LM, Wells S, Steel KP, Mallon AM, Brown SDM.   +49 more
europepmc   +1 more source

DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3. [PDF]

Eur J Hum Genet, 2010
Khan SY, Riazuddin S, Shahzad M, Ahmed N, Zafar AU, Rehman AU, Morell RJ, Griffith AJ, Ahmed ZM, Riazuddin S, Friedman TB.   +10 more
europepmc   +1 more source

Genetic heterogeneity in autosomal recessive hearing loss: a survey of Brazilian families. [PDF]

Front Genet
Antunes LN, Dias AMM, Schiavo BC, Mendes BCA, Bertola DR, Lezirovitz K, Mingroni-Netto RC.   +6 more
europepmc   +1 more source

MYH1 deficiency disrupts outer hair cell electromotility, resulting in hearing loss. [PDF]

Exp Mol Med
Jung J, Joo SY, Min H, Roh JW, Kim KA, Ma JH, Rim JH, Kim JA, Kim SJ, Jang SH, Koh YI, Kim HY, Lee H, Kim BC, Gee HY, Bok J, Choi JY, Seong JK.   +17 more
europepmc   +1 more source

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Agent-Based Modeling of Autosomal Recessive Deafness 1A (DFNB1A) Prevalence with Regard to Intensity of Selection Pressure in Isolated Human Population

Biology, 2022
Vera Pshennikova, Aleksey Mukhin, Georgiĭ Romanov   +2 more
exaly  

A common founder effect of the splice site variant c.-23 + 1G > A in GJB2 gene causing autosomal recessive deafness 1A (DFNB1A) in Eurasia

Human Genetics, 2021
Ene Metspalu, Vera Pshennikova, Tatiana Marková   +2 more
exaly