MUSTAFA OZEN to Abnormalities, Multiple
This is a "connection" page, showing publications MUSTAFA OZEN has written about Abnormalities, Multiple.
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Revealing the functions of novel mutations in RAB3GAP1 in Martsolf and Warburg micro syndromes. Am J Med Genet A. 2019 04; 179(4):579-587.
Score: 0.415
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Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome. Orphanet J Rare Dis. 2015 Sep 30; 10:128.
Score: 0.082
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Circumferential skin folds and multiple anomalies: confirmation of a distinct autosomal recessive Michelin tire baby syndrome. Clin Dysmorphol. 2013 Apr; 22(2):87-90.
Score: 0.069
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Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function. Cell. 2014 Apr 24; 157(3):636-50.
Score: 0.019