ORCID "0000-0003-0103-9612" Tıp Fakültesi Koleksiyonu için listeleme
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Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease
Karaca, Ender; Harel, Tamar; Pehlivan, Davut; Jhangiani, Shalini N.; Gambin, Tomasz; Akdemir, Zeynep Çoban; Lupski, James R.; Aydın, Hatip (Cell Press, 2015)Development of the human nervous system involves complex interactions among fundamental cellular processes and requires a multitude of genes, many of which remain to be associated with human disease. We applied whole exome ... -
Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin
Bayram, Yavuz; Karaca, Ender; Akdemir, Zeynep Çoban; Yılmaz, Elif Ozdamar; Tayfun, Gülsen Akay; Aydın, Hatip; Lupski, James R. (Amer Soc Clinical Investigation Inc, 2016)BACKGROUND. Arthrogryposis, defined as congenital, joint contractures in 2 or more body areas, is a clinical sign rather than a specific disease diagnosis. To date, more than 400 different disorders have been described ...