نتایج جستجو برای: exome sequencing

تعداد نتایج: 127939  

Journal: :Advances in Genomics and Genetics 2014

Journal: :Journal of Clinical Investigation 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: :Public Health Genomics 2016

Journal: :The American Journal of Human Genetics 2012

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