Risultati della ricerca - Vehap Topçu

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  1. 1
    Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency

    Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency di Huw B. Thomas, Leigh Demain, Alfredo Cabrera‐Orefice, Isabelle Schrauwen, Hanan E. Shamseldin, Alessandro Rea, Thashi Bharadwaj, Thomas B. Smith, Monika Oláhová, Kyle Thompson, Langping He, Namanpreet Kaur, Anju Shukla, Musaad Abukhalid, Muhammad Ansar, Sakina Rehman, Saima Riazuddin, Firdous Abdulwahab, Janine Smith, Zornitza Stark, Hanifenur Mancılar, Sait Tümer, Fatma Nisa Esen, Eyyüp Üçtepe, Vehap Topçu, Ahmet Yeşilyurt, Erum Afzal, Mehri Salari, Christopher J. Carroll, Giovanni Zifarelli, Peter Bauer, Deniz Kör, Fatma Derya Bulut, Henry Houlden, Reza Maroofian, Samantha Carrera, Wyatt W. Yue, Kevin J. Munro, Fowzan S. Alkuraya, Peter Jamieson, Zubair M. Ahmed, Suzanne M. Leal, Robert W. Taylor, Ilka Wittig, Raymond T. O’Keefe, William G. Newman

    Pubblicazione 2025
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  2. 2
    High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population

    High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population di Tadahiro Mitani, Sedat Işıkay, Alper Gezdirici, Elif Yılmaz Güleç, Jaya Punetha, Jawid M. Fatih, Isabella Herman, Gülsen Akay, Haowei Du, Daniel G. Calame, Akif Ayaz, Tülay Tos, Gözde Yeşil, Hatip Aydın, Bilgen Bilge Geçkinli, Nursel Elçioğlu, Şükrü Candan, Özlem Sezer, Haktan Bağış Erdem, Davut Gül, Emine Demıral, Muhsin Elmas, Osman Yeşilbaş, Betül Kılıç, Serdal Güngör, Ahmet Cevdet Ceylan, Sevcan Tuğ Bozdoğan, Özge Özalp, Salih Cicek, Hüseyin Aslan, Sinem Yalçıntepe, Vehap Topçu, Yavuz Bayram, Christopher M. Grochowski, Angad Jolly, Moez Dawood, Ruizhi Duan, Shalini N. Jhangiani, HarshaVardhan Doddapaneni, Jianhong Hu, Donna M. Muzny, Dana Marafi, Zeynep Coban‐Akdemir, Ender Karaca, Claudia M.B. Carvalho, Richard A. Gibbs, Jennifer E. Posey, James R. Lupski, Davut Pehli̇van

    Pubblicazione 2021
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  3. 3
    Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

    Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease di Ender Karaca, Tamar Harel, Davut Pehli̇van, Shalini N. Jhangiani, Tomasz Gambin, Zeynep Coban‐Akdemir, Claudia Gonzaga‐Jauregui, Serkan Erdin, Yavuz Bayram, Ian M. Campbell, Jill V. Hunter, Mehmed M. Atik, Hilde Van Esch, Bo Yuan, Wojciech Wiszniewski, Sedat Işıkay, Gözde Yeşil, Özge Özalp Yüreğir, Sevcan Tuğ Bozdoğan, Hüseyin Aslan, Hatip Aydın, Tülay Tos, Ayşe Aksoy, Darryl C. De Vivo, Preti Jain, Bilgen Bilge Geçkinli, Özlem Sezer, Davut Gül, Burak Durmaz, Özgür Çoğulu, Ferda Özkınay, Vehap Topçu, Şükrü Candan, Alper Han Çebi, Mevlit Íkbal, Elif Yılmaz Güleç, Alper Gezdirici, Erkan Koparir, Fatma Ekici, Salih Coşkun, Salih Cicek, Kadri Karaer, Asuman Koparır, Mehmet Buğrahan Düz, Emre Kırat, Elif Fenercioğlu, Hakan Ulucan, Mehmet Seven, Tülay Güran, Nursel Elçioğlu, Mahmut Selman Yıldırım, Dilek Aktaş, Mehmet Alikaşifoĝlu, Mehmet Türe, Tahsin Yakut, John D. Overton, Adnan Yüksel, Mustafa Özen, Donna M. Muzny, David R. Adams, Eric Boerwinkle, Wendy K. Chung, Richard A. Gibbs, James R. Lupski

    Pubblicazione 2015
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