A case of campomelic dysplasia in whom a new mutation was found in the SOX9 gene

著者: Karaer, Kadri, Yüksel, Zafer, Yalınbaş, Esin, Scherer, Gerd
出版年 Turk Pediatri Ars (2014)

Implantation of cardiac defibrillator in an infant with hypertrophic cardiomyopathy and newly identified MYBP3 mutation

著者: Güvenç, Osman, Karaer, Kadri, Haydin, Sertaç, Güzeltaş, Alper, Ergül, Yakup
出版年 Turk Pediatri Ars (2020)

Genetic Diagnosis Using Whole Exome Analysis in Two Cases with Malignant Osteopetrosis of Infancy

著者: Demir, Korcan, Nalbantoğlu, Özlem, Karaer, Kadri, Korkmaz, Hüseyin Anıl, Yıldız, Melek, Tunç, Selma, Özkan, Behzat
出版年 J Clin Res Pediatr Endocrinol (2015)

Early-Onset Mild Type Leukoencephalopathy Caused by a Homozygous EARS2 Mutation

著者: Taskin, Birce Dilge, Karalok, Zeynep Selen, Gurkas, Esra, Aydin, Kursad, Aydogmus, Ummu, Ceylaner, Serdar, Karaer, Kadri, Yilmaz, Cahide, Pearl, Phillip Lawrence
出版年 J Child Neurol (2016)

Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes

著者: Bhoj, Elizabeth J., Haye, Damien, Toutain, Annick, Bonneau, Dominique, Nielsen, Irene Kibæk, Lund, Ida Bay, Bogaard, Pauline, Leenskjold, Stine, Karaer, Kadri, Wild, Katherine T, Grand, Katheryn L, Astiazaran, Mirena C., Gonzalez-Nieto, Luis A., Carvalho, Ana, Lehalle, Daphné, Amudhavalli, Shivarajan M, Repnikova, Elena, Saunders, Carol, Thiffault, Isabelle, Saadi, Irfan, Li, Dong, Hakonarson, Hakon, Vial, Yoann, Zackai, Elaine, Callier, Patrick, Drunat, Séverine, Verloes, Alain
出版年 Eur J Med Genet (2018)

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

著者: 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
出版年 Neuron (2015)