Sökresultat - Hakan Ulucan
- Visas 1 - 3 av 3 resultat
-
1
Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type av Mala Isrie, Martin W. Breuss, Guoling Tian, Andi H. Hansen, Francesca Cristofoli, Jasmin Morandell, Zachari A. Kupchinsky, Alejandro Sifrim, Celia Maria Rodriguez-Rodriguez, Elena Porta Dapena, Kurston Doonanco, Norma Leonard, Faten Tinsa, Stéphanie Moortgat, Hakan Ulucan, Erkan Koparir, Ender Karaca, Nicholas Katsanis, Valeria Marton, Joris Vermeesch, Erica E. Davis, Nicholas J. Cowan, David A. Keays, Hilde Van Esch
Publicerad 2015Artigo -
2
Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes av Bo Yuan, Davut Pehli̇van, Ender Karaca, Nisha Patel, Wu‐Lin Charng, Tomasz Gambin, Claudia Gonzaga‐Jauregui, V. Reid Sutton, Gözde Yeşil, Sevcan Tuğ Bozdoğan, Tülay Tos, Asuman Koparır, Erkan Koparir, Christine R. Beck, Shen Gu, Hüseyin Aslan, Özge Özalp Yüreğir, Khalid Al Rubeaan, Dhekra Alnaqeb, Muneera J. Alshammari, Yavuz Bayram, Mehmed M. Atik, Hatip Aydın, Bilgen Bilge Geçkinli, Mehmet Seven, Hakan Ulucan, Elif Fenercioğlu, Mustafa Özen, Shalini N. Jhangiani, Donna M. Muzny, Eric Boerwinkle, Beyhan Tüysüz, Fowzan S. Alkuraya, Richard A. Gibbs, James R. Lupski
Publicerad 2015Artigo -
3
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease av 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
Publicerad 2015Artigo
Sökverktyg:
Relaterade ämnen
Biology
Gene
Genetics
Medicine
Phenotype
Affect (linguistics)
Brain function
Communication
Cornelia de Lange Syndrome
Dermatology
Disease
Exome sequencing
Function (biology)
Genetic heterogeneity
Haploinsufficiency
Loss function
Mendelian inheritance
Missense mutation
Mutation
Neuroscience
Pathology
Psychology
Skin type