학술논문
'학술논문'
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1~10
Guner Yilmaz, Bengisu; Akgun-Dogan, Ozlem; Ozdemir, Ozkan; Yuksel, Bayram; Hatirnaz Ng, Ozden; Bilguvar, Kaya; Ay, Beril; Ozkose, Gulsah Sebnem; Aydin, Eylul; Yigit, Ayca; Bulut, Aybike; Esen, Fatma Nisa; Beken, Serdar; Aktas, Selma; Demirel, Atalay; Arcagok, Baran Cengiz; Kazanci, Ebru; Bingol, İbrahim; Umur, Ozge; Sik, Guntulu; Isik, Ugur; Ersoy, Melike; Korkmaz, Ayse; Citak, Agop; Mardinoglu, Adil; Ozbek, Ugur; Alanay, Yasemin
Frontiers in Pediatrics. 12
Academic Journal
Bengisu Guner Yilmaz; Ozlem Akgun-Dogan; Ozkan Ozdemir; Bayram Yuksel; Ozden Hatirnaz Ng; Kaya Bilguvar; Beril Ay; Gulsah Sebnem Ozkose; Eylul Aydin; Ayca Yigit; Aybike Bulut; Fatma Nisa Esen; Serdar Beken; Selma Aktas; Atalay Demirel; Baran Cengiz Arcagok; Ebru Kazanci; İbrahim Bingol; Ozge Umur; Guntulu Sik; Ugur Isik; Melike Ersoy; Ayse Korkmaz; Agop Citak; Adil Mardinoglu; Ugur Ozbek; Yasemin Alanay
Frontiers in Pediatrics, Vol 12 (2024)
Academic Journal
Mark W. Youngblood; Zeynep Erson-Omay; Chang Li; Hinda Najem; Süleyman Coșkun; Evgeniya Tyrtova; Julio D. Montejo; Danielle F. Miyagishima; Tanyeri Barak; Sayoko Nishimura; Akdes Serin Harmancı; Victoria E. Clark; Daniel Duran; Anita Huttner; Timuçin Avşar; Yasar Bayri; Johannes Schramm; Julien Boetto; Matthieu Peyre; Maximilien Riche; Roland Goldbrunner; Nduka Amankulor; Angeliki Louvi; Kaya Bilgüvar; M. Necmettin Pamir; Koray Özduman; Türker Kilic; James R. Knight; Matthias Simon; Craig Horbinski; Michel Kalamarides; Marco Timmer; Amy B. Heimberger; Ketu Mishra-Gorur; Jennifer Moliterno; Katsuhito Yasuno; Murat Günel
Nature Communications, Vol 14, Iss 1, Pp 1-16 (2023)
Academic Journal
Hwang, Jae Yeon; Chai, Pengxin; Nawaz, Shoaib; Choi, Jungmin; Lopez-Giraldez, Francesc; Hussain, Shabir; Bilguvar, Kaya; Mane, Shrikant; Lifton, Richard P; Ahmad, Wasim; Zhang, Kai; Chung, Jean-Ju
eLife. December 13, 2023, Vol. 12
Academic Journal
Jae Yeon Hwang; Pengxin Chai; Shoaib Nawaz; Jungmin Choi; Francesc Lopez-Giraldez; Shabir Hussain; Kaya Bilguvar; Shrikant Mane; Richard P Lifton; Wasim Ahmad; Kai Zhang; Jean-Ju Chung
eLife, Vol 12 (2023)
Academic Journal
Wiessner, Manuela; Maroofian, Reza; Ni, Meng-Yuan; Pedroni, Andrea; Müller, Juliane S; Stucka, Rolf; Beetz, Christian; Efthymiou, Stephanie; Santorelli, Filippo M; Alfares, Ahmed A; Zhu, Changlian; Uhrova Meszarosova, Anna; Alehabib, Elham; Bakhtiari, Somayeh; Janecke, Andreas R; Otero, Maria Gabriela; Chen, Jin Yun Helen; Peterson, James T; Strom, Tim M; De Jonghe, Peter; Deconinck, Tine; De Ridder, Willem; De Winter, Jonathan; Pasquariello, Rossella; Ricca, Ivana; Alfadhel, Majid; van de Warrenburg, Bart P; Portier, Ruben; Bergmann, Carsten; Ghasemi Firouzabadi, Saghar; Jin, Sheng Chih; Bilguvar, Kaya; Hamed, Sherifa; Abdelhameed, Mohammed; Haridy, Nourelhoda A; Maqbool, Shazia; Rahman, Fatima; Anwar, Najwa; Carmichael, Jenny; Pagnamenta, Alistair; Wood, Nick W; Tran Mau-Them, Frederic; Haack, Tobias; Di Rocco, Maja; Ceccherini, Isabella; Iacomino, Michele; Zara, Federico; Salpietro, Vincenzo; Scala, Marcello; Rusmini, Marta; Xu, Yiran; Wang, Yinghong; Suzuki, Yasuhiro; Koh, Kishin; Nan, Haitian; Ishiura, Hiroyuki; Tsuji, Shoji; Lambert, Laëtitia; Schmitt, Emmanuelle; Lacaze, Elodie; Küpper, Hanna; Dredge, David; Skraban, Cara; Goldstein, Amy; Willis, Mary JH; Grand, Katheryn; Graham, John M; Lewis, Richard A; Millan, Francisca; Duman, Özgür; Dündar, Nihal; Uyanik, Gökhan; Schöls, Ludger; Nürnberg, Peter; Nürnberg, Gudrun; Catala Bordes, Andrea; Seeman, Pavel; Kuchar, Martin; Darvish, Hossein; Rebelo, Adriana; Bouçanova, Filipa; Medard, Jean-Jacques; Chrast, Roman; Auer-Grumbach, Michaela; Alkuraya, Fowzan S; Shamseldin, Hanan; Al Tala, Saeed; Rezazadeh Varaghchi, Jamileh; Najafi, Maryam; Deschner, Selina; Gläser, Dieter; Hüttel, Wolfgang; Kruer, Michael C; Kamsteeg, Erik-Jan; Takiyama, Yoshihisa; Züchner, Stephan; Baets, Jonathan; Synofzik, Matthis; Schüle, Rebecca; Horvath, Rita
Brain. 144(5)
Academic Journal
Ülgen, Ege; Karacan, Sıla; Gerlevik, Umut; Can, Özge; Bilguvar, Kaya; Oktay, Yavuz; B Akyerli, Cemaliye; K Yüksel, Şirin; E Danyeli, Ayça; Tihan, Tarık; Sezerman, O; Yakıcıer, M; Pamir, M; Özduman, Koray
Biomedicines. 8(12)
Academic Journal
Tuysuz, Beyhan; Ercan-Sencicek, Adife Gulhan; Ozer, Emre; Goc, Nukte; Yalcinkaya, Cengiz; Bilguvar, Kaya
Turkish Archives of Pediatrics. September, 2022, Vol. 57 Issue 5, p521, 5 p.
Academic Journal
Caglayan, Ahmet Okay; Tuysuz, Beyhan; Gül, Ece; Alkaya, Dilek Uludag; Yalcinkaya, Cengiz; Gleeson, Joseph G.; Bilguvar, Kaya; Gunel, Murat
Journal of Human Genetics. 67(9):553-556
Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy
Chatron, Nicolas; Becker, Felicitas; Morsy, Heba; Schmidts, Miriam; Hardies, Katia; Tuysuz, Beyhan; Roselli, Sandra; Najafi, Maryam; Alkaya, Dilek Uludag; Ashrafzadeh, Farah; Nabil, Amira; Omar, Tarek; Maroofian, Reza; Karimiani, Ehsan Ghayoor; Hussien, Haytham; Kok, Fernando; Ramos, Luiza; Gunes, Nilay; Bilguvar, Kaya; Labalme, Audrey; Alix, Eudeline; Sanlaville, Damien; de Bellescize, Julitta; Poulat, Anne-Lise; Moslemi, Ali-Reza; Lerche, Holger; May, Patrick; Lesca, Gaetan; Weckhuysen, Sarah; Tajsharghi, Homa
Brain. 143(5):1447-1461
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