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

Bằng Çebi, Alper Han, Altıner, Şule
Xuất bản năm Mol Syndromol (2020)

Assessment of Circulating Microribonucleic Acids in Patients With Familial Mediterranean Fever

Bằng DEMİR, Ferhat, ÇEBİ, Alper Han, KALYONCU, Mukaddes
Xuất bản năm Arch Rheumatol (2019)

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

Bằng Sag, Elif, Cebi, Alper Han, Kaya, Gulay, Karaguzel, Gulay, Cakir, Murat
Xuất bản năm Pediatr Gastroenterol Hepatol Nutr (2017)

An infant with cholestasis, acholic stool and high GGT levels

Bằng Sağ, Elif, Işık, Güneş, Çebi, Alper Han, Kalyoncu, Mukaddes, Çakır, Murat, Aydoğdu, Sema
Xuất bản năm Turk J Gastroenterol (2018)

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

Bằng Burcu, Guven, Bellacchio, Emanuele, Sag, Elif, Cebi, Alper Han, Saygin, Ismail, Bahadir, Aysenur, Yilmaz, Guldal, Corbeddu, Marialuisa, Cakir, Murat, Callea, Francesco
Xuất bản năm Int J Mol Sci (2020)

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

Bằng 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
Xuất bản năm Neuron (2015)