نتایج جستجو برای: exome sequencing
تعداد نتایج: 127939 فیلتر نتایج به سال:
Journal:
:Advances in Genomics and Genetics
2014
Journal:
:Journal of Clinical Investigation
2013
Journal:
:Genomics & Informatics
2013
Journal:
:genetics in the 3rd millennium
0
parva namiranian
mehrvash shams
joseph gleeson
hossein najmabadi
ariana kariminejad
spastic paraplegia 18 is an autosomal recessive disorder characterized by motor dysfunction, joint contracture and mental retardation. we describe two families as three cases. case 1 is a 35-year-old woman with and spasticity and mild weakness in lower limbs. case 2 and 3 are a sister and brother aged six and two respectively. the older sister suffered from lower limb spasticity, equinovarus an...
Journal:
:Cancer Immunology Research
2015
Journal:
:Nature Biotechnology
2011
Journal:
:The American Journal of Human Genetics
2012
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