نتایج جستجو برای: novel mutation

تعداد نتایج: 1043934  

Journal: :genetics in the 3rd millennium 0
mojgan babanejad mohammad reza akbari nooshin nikzat1 sanaz arzhangi hossein najmabadi kimia kahrizi

introduction: with prevalence figures close to 0.2% at birth, hearing loss (hl) is the most frequent sensory impairment in childhood. in developed countries, genetic causes account for more than 60% of congenital hl, most often resulting in non-syndromic deafness, which is usually autosomal recessive. hereditary nonsyndromic hearing loss (nshl) in iran is highly heterogeneous, rendering molecul...

Journal: :iranian journal of public health 0
m hashemzadeh chaleshtori dd farhud r taylor v hadavi ma patton ar afzal

mutations in the gjb2 gene at the dfnb1 locus on chromosome 13q12 are associated with autosomal recessive non syndromic hearing loss (arnshl) in many populations. a single mutation, at position 35 (35delg) accounts for approximately 30-63% of mutations in white populations with a carrier frequency of 1.5-2.5% in most european, north american and mediterranean populations. in this study we have ...

Journal: :Pediatric Neurology Briefs 2012

Journal: :The Journal of Clinical Endocrinology & Metabolism 2012

Journal: :JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH 2014

Journal: :RRNMF Neuromuscular Journal 2021

Journal: :Transfusion Medicine and Hemotherapy 2010

Journal: :Pediatric Neurology Briefs 2004

Journal: :Molecular and Cellular Biology 1985

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