Repository of Research and Investigative Information
Shahid Sadoughi University of Medical Sciences
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(2020) Testicular expression of TDRD1, TDRD5, TDRD9 and TDRD12 in azoospermia. BMC medical genetics. p. 33. ISSN 1471-2350
(2018) Biallelic mutations in early-onset, variably progressive neurodegeneration. Neurology. e319-e330. ISSN 1526-632X
(2017) B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies. Genome medicine. p. 118. ISSN 1756-994X
(2017) Digenic inheritance of mutations in the cardiac troponin (TNNT2) and cardiac beta myosin heavy chain (MYH7) as the cause of severe dilated cardiomyopathy. European journal of medical genetics. ISSN 1878-0849