نتایج جستجو برای: Large Deletions

تعداد نتایج: 1045700  

Journal: International Journal of Fertility and Sterility 2015
Abasalt Hosseinzadeh Colagar Ali Bidmeshkipour Maryam Gholinezhad Chari,

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Journal: :modares journal of medical sciences: pathobiology 2010
atefeh shirkavand nejat mahdieh hamideh bagherian maryam sharafi farzad roghayeh vahidi

objective: hearing loss is the most frequent neurosensory defect in human. mutations in gjb2 and gjb6 are responsible for 50% of autosomal recessive non-syndromic hearing loss (arnshl) cases. here we report on the frequencies of gjb2 and gjb6 mutations and three large deletions spanning the gjb6 gene including del (gjb6-d13s1830), del (gjb6-d13s1854) and a >920 kb deletion in patients affected ...

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Journal: :Nature 2018

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Journal: :Nucleic Acids Research 1986

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Journal: :The Journal of Clinical Endocrinology & Metabolism 2008

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Journal: :Molecular Genetics & Genomic Medicine 2016

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Journal: :Blood 2018

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Journal: :Virology 1995

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ژورنال: Hormozgan Medical Journal 2012
Khordadpoor-Deilamani, F, Noori Daloii, M.R,

Introduction: Lots of human diseases and syndromes result from partial or complete gene deletions and duplications or changes of certain specific chromosomal sequences. Many various methods are used to study the chromosomal aberrations including Comparative Genomic Hybridization (CGH), Fluorescent in Situ Hybridization (FISH), Southern blots, Multiplex Amplifiable Probe Hybridisation (MAP...

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Journal: :Molecular Genetics and Metabolism 2011

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