Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani Families

Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani Families

<p dir="ltr">The current molecular genetic diagnostic rates for hereditary hearing loss (HL) vary considerably according to the population background. Pakistan and other countries with high rates of consanguineous marriages have served as a unique resource for studying rare and novel...

وصف كامل

محفوظ في:
التفاصيل البيبلوغرافية
المؤلف الرئيسي: Julia Doll (5237840) (author)
مؤلفون آخرون: Barbara Vona (5237843) (author), Linda Schnapp (18718837) (author), Franz Rüschendorf (73756) (author), Imran Khan (109715) (author), Saadullah Khan (5735540) (author), Noor Muhammad (820180) (author), Sher Alam Khan (18718840) (author), Hamed Nawaz (18718843) (author), Ajmal Khan (358733) (author), Naseer Ahmad (4870411) (author), Susanne M. Kolb (18718846) (author), Laura Kühlewein (18718849) (author), Jonathan D. J. Labonne (18090841) (author), Lawrence C. Layman (13913559) (author), Michaela A. H. Hofrichter (18718852) (author), Tabea Röder (18718855) (author), Marcus Dittrich (167737) (author), Tobias Müller (163591) (author), Tyler D. Graves (18718858) (author), Il-Keun Kong (85884) (author), Indrajit Nanda (226370) (author), Hyung-Goo Kim (728597) (author), Thomas Haaf (342924) (author)
منشور في: 2020
الموضوعات:
Biological sciences
Genetics
Biomedical and clinical sciences
Clinical sciences
Neurosciences
genetic diagnosis
consanguinity
genome-wide linkage analysis
hearing loss
Pakistan
exome sequencing
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