תוצאות חיפוש - Asuman Koparır
- Showing 1 - 3 results of 3
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1
Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome מאת Tahir Atık, Asuman Koparır, Güney Bademci, Joseph Foster, Umut Altunoğlu, Gül Yeşiltepe Mutlu, Sarah Bowdin, Nursel Elçioğlu, Gulsen Akay Tayfun, Sevinç Şahin Atik, Mustafa Özen, Ferda Özkınay, Yasemin Alanay, Hülya Kayserili, Steffen Thiel, Mustafa Tekin
יצא לאור 2015Artigo -
2
Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes מאת 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
יצא לאור 2015Artigo -
3
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease מאת 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
יצא לאור 2015Artigo
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נושאים קשורים
Biology
Gene
Genetics
Phenotype
Missense mutation
Mutation
Affect (linguistics)
Brain function
Communication
Cornelia de Lange Syndrome
Disease
Exome sequencing
Function (biology)
Genetic heterogeneity
Haploinsufficiency
Loss function
Medicine
Mendelian inheritance
Neuroscience
Pathology
Proband
Psychology