نتایج جستجو برای: generation sequencing

تعداد نتایج: 461795  

Journal: :iranian biomedical journal 0
mohammad reza alaei saeed talebi mohammad ghofrani mohsen taghizadeh mohammad keramatipour

background: progressive encephalopathy with or without lipodystrophy is a rare autosomal recessive childhood-onset seipin-associated neurodegenerative syndrome, leading to developmental regression of motor and cognitive skills. in this study, we introduce a patient with developmental regression and autism. the causative mutation was found by exome sequencing. methods: the proband showed a gener...

ژورنال: فیض 2019

Background: Asthenozoospermia, as the most prevalent cause of male infertility, is defined as low percentage of progressively motile spermatozoa per ejaculate. It occurs in both non-syndromic and syndromic forms and later it manifests as a part of primary ciliary dyskinesia. In the last decade, with the advent of Next-generation sequencing technologies numerous genes have been introduced in the...

The Iranian Rehabilitation Journal (IRJ) invites research papers on the genetic basis of single gene and complex disorders. This vastly dynamic branch of science will complement the multidisciplinary wealth of expertise in the fields of social welfare and rehabilitation. The past few years have witnessed outstanding research projects on the genetic causes of numerous debilitating disorders, suc...

H. Khanzadeh N. Ghavi Hossein-Zadeh, S. Ghovvati

Recently genetic studies have been revolutionized by next generation sequencing (NGS) technology, and it is expected that the use of this technology will largely eliminate defects in the methods of association studies. The NGS technology is becoming the premier tool in genetics. However, at the moment the use of this method is limited especially in the livestock due to high cost and computation...

Journal: :European Journal of Human Genetics 2015

Journal: :Journal of Next Generation Sequencing & Applications 2016

Journal: :Archives of Pathology & Laboratory Medicine 2017

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید