Arama Sonuçları - Mohammed Al‐Raqad
- Gösterilen 1 - 4 sonuçlar arası kayıtlar. 4
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1
A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability Yazar: Poh Hui Chia, Franklin L. Zhong, Shinsuke Niwa, Carine Bonnard, Kagistia Hana Utami, Ruizhu Zeng, Hane Lee, Ascia Eskin, Stanley F. Nelson, William Xie, Samah Al‐Tawalbeh, Mohammad El-Khateeb, Mohammad Shboul, Mahmoud A. Pouladi, Mohammed Al‐Raqad, Bruno Reversade
Baskı/Yayın Bilgisi 2018Artigo -
2
Genome-wide CRISPR-Cas9 Screen Identifies Leukemia-Specific Dependence on a Pre-mRNA Metabolic Pathway Regulated by DCPS Yazar: Takuji Yamauchi, Takeshi Masuda, Matthew C. Canver, Michael Seiler, Yuichiro Semba, Mohammad Shboul, Mohammed Al‐Raqad, Manami Maeda, Vivien A. C. Schoonenberg, Mitchel A. Cole, Claudio Macias-Treviño, Yuichi Ishikawa, Qiuming Yao, Michitaka Nakano, Fumio Arai, Stuart H. Orkin, Bruno Reversade, Silvia Buonamici, Luca Pinello, Koichi Akashi, Daniel E. Bauer, Takahiro Maeda
Baskı/Yayın Bilgisi 2018Artigo -
3
SYT1-associated neurodevelopmental disorder: a case series Yazar: Kate Baker, Sarah L. Gordon, Holly Melland, Fabian Bumbak, Daniel J. Scott, Tess J Jiang, David J. Owen, Bradley J. Turner, Stewart Boyd, Mari Rossi, Mohammed Al‐Raqad, Orly Elpeleg, Dawn Peck, Grazia M.S. Mancini, Martina Wilke, Marcella Zollino, Giuseppe Marangi, Heike Weigand, Ingo Borggraefe, Tobias B. Haack, Zornitza Stark, Simon Sadedin, Tiong Yang Tan, Yunyun Jiang, Richard A. Gibbs, Sara Ellingwood, Michelle D. Amaral, Whitley V. Kelley, Manju A. Kurian, Michael A. Cousin, F. Lucy Raymond
Baskı/Yayın Bilgisi 2018Artigo -
4
Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities Yazar: Fuad Chowdhury, Lei Wang, Mohammed Al‐Raqad, David J. Amor, A Baxová, Šárka Bendová, Elisa Biamino, Alfredo Brusco, Oana Caluseriu, Nancy J. Cox, Tawfiq Froukh, Meral Gunay‐Aygun, Miroslava Hančárová, Devon Haynes, Solveig Heide, George Hoganson, Tadashi Kaname, Boris Keren, Kenjiro Kosaki, Kazuo Kubota, Jennifer Lemons, Maria A. Magriñá, Paul R. Mark, Marie McDonald, Sarah Montgomery, Gina M. Morley, Hidenori Ohnishi, Nobuhiko Okamoto, David Rodriguez‐Buritica, Patrick Rump, Zdeněk Sedláček, Krista Schatz, Haley Streff, Tomoko Uehara, Jagdeep S. Walia, Patricia G. Wheeler, Antje Wiesener, Christiane Zweier, Koichi Kawakami, Ingrid M. Wentzensen, Seema R. Lalani, Victoria Mok Siu, Weimin Bi, Tuğçe B. Balcı
Baskı/Yayın Bilgisi 2021Artigo
Arama Araçları:
İlgili Konular
Biology
Gene
Genetics
Phenotype
Intellectual disability
Missense mutation
Mutation
Neuroscience
CRISPR
Cancer research
Cell biology
Exome
Exome sequencing
Genome editing
Germline
Haploinsufficiency
Loss function
Medicine
Membrane
Messenger RNA
Molecular biology
Myeloid leukemia
Neurodevelopmental disorder
Psychology
RNA
RNA splicing
Spliceosome
Synaptic vesicle
Synaptotagmin 1
Vesicle