Application of Chromosome Microarray Analysis in the Investigation of Developmental Disabilities and Congenital Anomalies: Single Center Experience and Review of NRXN3 and NEDD4L D...

بواسطة Çebi, Alper Han, Altıner, Şule
الحاوية / القاعدة Mol Syndromol (2020)

Assessment of Circulating Microribonucleic Acids in Patients With Familial Mediterranean Fever

بواسطة DEMİR, Ferhat, ÇEBİ, Alper Han, KALYONCU, Mukaddes
الحاوية / القاعدة Arch Rheumatol (2019)

A Rare Cause of Recurrent Acute Pancreatitis in a Child: Isovaleric Acidemia with Novel Mutation

بواسطة Sag, Elif, Cebi, Alper Han, Kaya, Gulay, Karaguzel, Gulay, Cakir, Murat
الحاوية / القاعدة Pediatr Gastroenterol Hepatol Nutr (2017)

An infant with cholestasis, acholic stool and high GGT levels

بواسطة Sağ, Elif, Işık, Güneş, Çebi, Alper Han, Kalyoncu, Mukaddes, Çakır, Murat, Aydoğdu, Sema
الحاوية / القاعدة Turk J Gastroenterol (2018)

Structural Characteristics in the γ Chain Variants Associated with Fibrinogen Storage Disease Suggest the Underlying Pathogenic Mechanism

بواسطة Burcu, Guven, Bellacchio, Emanuele, Sag, Elif, Cebi, Alper Han, Saygin, Ismail, Bahadir, Aysenur, Yilmaz, Guldal, Corbeddu, Marialuisa, Cakir, Murat, Callea, Francesco
الحاوية / القاعدة Int J Mol Sci (2020)

Genes that affect brain structure and function identified by rare variant analyses of Mendelian neurologic disease

بواسطة Karaca, Ender, Harel, Tamar, Pehlivan, Davut, Jhangiani, Shalini N., Gambin, Tomasz, Akdemir, Zeynep Coban, Gonzaga-Jauregui, Claudia, Erdin, Serkan, Bayram, Yavuz, Campbell, Ian M., Hunter, Jill V., Atik, Mehmed M., Van Esch, Hilde, Yuan, Bo, Wiszniewski, Wojciech, Isikay, Sedat, Yesil, Gozde, Yuregir, Ozge O., Bozdogan, Sevcan Tug, Aslan, Huseyin, Aydin, Hatip, Tos, Tulay, Aksoy, Ayse, De Vivo, Darryl C., Jain, Preti, Geckinli, B. Bilge, Sezer, Ozlem, Gul, Davut, Durmaz, Burak, Cogulu, Ozgur, Ozkinay, Ferda, Topcu, Vehap, Candan, Sukru, Cebi, Alper Han, Ikbal, Mevlit, Gulec, Elif Yilmaz, Gezdirici, Alper, Koparir, Erkan, Ekici, Fatma, Coskun, Salih, Cicek, Salih, Karaer, Kadri, Koparir, Asuman, Duz, Mehmet Bugrahan, Kirat, Emre, Fenercioglu, Elif, Ulucan, Hakan, Seven, Mehmet, Guran, Tulay, Elcioglu, Nursel, Yildirim, Mahmut Selman, Aktas, Dilek, Alikaşifoğlu, Mehmet, Ture, Mehmet, Yakut, Tahsin, Overton, John D., Yuksel, Adnan, Ozen, Mustafa, Muzny, Donna M., Adams, David R., Boerwinkle, Eric, Chung, Wendy K., Gibbs, Richard A., Lupski, James R
الحاوية / القاعدة Neuron (2015)