खोज परिणाम - Mohammed Al‐Raqad
- प्रदर्शित 1 - 4 परिणाम 4
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1
A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability द्वारा 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
प्रकाशित 2018Artigo -
2
Genome-wide CRISPR-Cas9 Screen Identifies Leukemia-Specific Dependence on a Pre-mRNA Metabolic Pathway Regulated by DCPS द्वारा 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
प्रकाशित 2018Artigo -
3
SYT1-associated neurodevelopmental disorder: a case series द्वारा 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
प्रकाशित 2018Artigo -
4
Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities द्वारा 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
प्रकाशित 2021Artigo
खोज साधन:
संबंधित विषय
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