نتایج جستجو برای: autosomal recessive

تعداد نتایج: 41260  

Journal: :Developmental Medicine & Child Neurology 2016

Journal: :iranian rehabilitation journal 0
reihaneh alikhani genetic research center, university of social welfare and rehabilitation sciences, tehran, iran. fatemeh ostaresh genetic research center, university of social welfare and rehabilitation sciences, tehran, iran. mojgan babanejad genetic research center, university of social welfare and rehabilitation sciences, tehran, iran. nilofar bazazzadegan genetic research center, university of social welfare and rehabilitation sciences, tehran, iran. hossein najmabadi genetic research center, university of social welfare and rehabilitation sciences, tehran, iran. kimia kahrizi genetic research center, university of social welfare and rehabilitation sciences, tehran, iran.

objectives: hearing loss (hl) is the most common sensory disorder, and affects 1 in 1000 newborns. about 50% of hl is due to genetics and 70% of them are non-syndromic with a recessive pattern of inheritance. up to now, more than 50 genes have been detected which are responsible for autosomal recessive non-syndromic hearing loss, (arnshl). in  iran, hl is one of the most common disabilities due...

Journal: :genetics in the 3rd millennium 0
ariana karimineja eva morava thatjana gardeitchik bruno reversade siavash ghaderi-soh tim van damme

cutis laxa is an acquired or inherited condition characterized by redundant, sagging and inelastic skin.  the inherited form is heterogeneous condition with autosomal dominant, autosomal recessive and x-linked inheritance.  autosomal dominant cutis laxa is divided into three types, type i, ii and iii and the responsible genes are eln, fbln5 and aldh18a1 respectively. an x-linked form of cutis l...

Journal: :Investigative Opthalmology & Visual Science 2015

Journal: :Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics) 2019

Journal: :Indian Journal of Child Health 2021

Journal: :European Journal of Human Genetics 2009

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