ORCID "0000-0003-3425-2727" WoS İndeksli Yayınlar Koleksiyonu için listeleme
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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 ... -
A novel missense mutation, p.(R102W) in WNT7A causes Al-Awadi Raas-Rothschild syndrome in a fetus
Mutlu, Mehmet Burak; Çetinkaya, Arda; Koç, Nermin; Ceylaner, Gülay; Ergüner, Bekir; Aydın, Hatip; Karaman, Ali (Elsevier Science Bv, 2016)Al-Awadi-Raas-Rothschild syndrome (AARRS) is a rare autosomal recessive disorder which consists of severe malformations of the upper and lower limbs, abnormal genitalia and underdeveloped pelvis. Here, we present a fetus ...