Výsledky vyhledávání - Mohammed A. Saleh
- Zobrazuji výsledky 1 - 8 z 8
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<i>MPV17</i>-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects Autor Ayman W. El‐Hattab, Julia Wang, Hongzheng Dai, Mohammed Almannai, Christian Staufner, Majid Alfadhel, Michael J. Gambello, Pankaj Prasun, Saleem Raza, Hernando Lyons, Manal Afqi, Mohammed A. Saleh, Eissa Faqeih, Hamad Alzaidan, Abduljabbar Alshenqiti, Leigh Anne Flore, Jozef Hertecant, Stephanie Sacharow, Deborah Barbouth, Kei Murayama, Amit A. Shah, Henry C. Lin, Lee-Jun Wong
Vydáno 2017Artigo -
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Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy Autor Tamar Harel, Gözde Yeşil, Yavuz Bayram, Zeynep Coban‐Akdemir, Wu‐Lin Charng, Ender Karaca, Ali Al Asmari, Mohammad K. Eldomery, Jill V. Hunter, Shalini N. Jhangiani, Jill A. Rosenfeld, Davut Pehli̇van, Ayman W. El‐Hattab, Mohammed A. Saleh, Charles A. LeDuc, Donna M. Muzny, Eric Boerwinkle, Richard A. Gibbs, Wendy K. Chung, Yaping Yang, John W. Belmont, James R. Lupski
Vydáno 2016Artigo -
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Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate Autor Wu‐Lin Charng, Ender Karaca, Zeynep Coban‐Akdemir, Tomasz Gambin, Mehmed M. Atik, Shen Gu, Jennifer E. Posey, Shalini N. Jhangiani, Donna M. Muzny, HarshaVardhan Doddapaneni, Jianhong Hu, Eric Boerwinkle, Richard A. Gibbs, Jill A. Rosenfeld, Hong Cui, Fan Xia, Kandamurugu Manickam, Yaping Yang, Eissa Faqeih, Ali Al Asmari, Mohammed A. Saleh, Ayman W. El‐Hattab, James R. Lupski
Vydáno 2016Artigo -
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AMPD2 Regulates GTP Synthesis and Is Mutated in a Potentially Treatable Neurodegenerative Brainstem Disorder Autor Naiara Akizu, Vincent Cantagrel, Jana Schroth, Na Cai, Keith K. Vaux, Douglas McCloskey, Robert K. Naviaux, Jeremy Van Vleet, Ali G. Fenstermaker, Jennifer L. Silhavy, Judith Scheliga, Keiko Toyama, Hiroko Morisaki, Fatma Müjgan Sönmez, Figen Celep, Azza Oraby, Maha S. Zaki, Raidah Albaradie, Eissa Faqeih, Mohammed A. Saleh, Emily Spencer, Rasim Özgür Rosti, Eric Scott, Elizabeth Nickerson, Stacey Gabriel, Takayuki Morisaki, Edward W. Holmes, Joseph G. Gleeson
Vydáno 2013Artigo -
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Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism Autor Frederike L. Harms, Katta M. Girisha, Andrew A. Hardigan, Fanny Kortüm, Anju Shukla, Malik Alawi, Ashwin Dalal, Lauren Brady, Mark A. Tarnopolsky, Lynne M. Bird, Sophia Ceulemans, Martina Bebin, Kevin M. Bowling, Susan M. Hiatt, Edward J. Lose, Michelle Primiano, Wendy K. Chung, Jane Juusola, Zeynep Coban‐Akdemir, Matthew N. Bainbridge, Wu‐Lin Charng, Margaret Drummond‐Borg, Mohammad K. Eldomery, Ayman W. El‐Hattab, Mohammed A. Saleh, Stéphane Bézieau, Benjamin Cogné, Bertrand Isidor, Sébastien Küry, James R. Lupski, R Myers, Gregory M. Cooper, Kerstin Kutsche
Vydáno 2016Artigo -
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Molecular and clinical spectra of FBXL4 deficiency Autor Ayman W. El‐Hattab, Hongzheng Dai, Mohammed Almannai, Julia Wang, Eissa Faqeih, Ali Al Asmari, Mohammed A. Saleh, Mohammed Elamin, Majid Alfadhel, Fowzan S. Alkuraya, Mais Hashem, Mazhor Aldosary, Rawan Almass, Faten Almutairi, Maysoon Alsagob, Mohammed Al‐Owain, Shirin Al-Sharfa, Zuhair N. Al‐Hassnan, Zuhair Rahbeeni, Mohammad A. Al–Muhaizea, Nawal Makhseed, Gretchen Kissel Foskett, David A. Stevenson, Natalia Gomez‐Ospina, Chung Lee, Richard G. Boles, Samantha A. Schrier Vergano, Saskia B. Wortmann, Wolfgang Sperl, Thomas Opladen, Georg F. Hoffmann, Maja Hempel, Holger Prokisch, Bader Alhaddad, Johannes A. Mayr, Wenyaw Chan, Namik Kaya, Lee‐Jun C. Wong
Vydáno 2017Revisão
Vyhledávací nástroje:
Související témata
Biology
Gene
Genetics
Medicine
Phenotype
Bioinformatics
Hypotonia
Mitochondrial DNA
Pathology
Anatomy
Antigen
Artificial intelligence
Atrophy
Biochemistry
Biotechnology
Brainstem
Business
Candidate gene
Cell biology
Chromatin immunoprecipitation
Computational biology
Computer science
Copy-number variation
Disease
Disease gene identification
Enzyme
Evolutionary biology
Exome
Exome sequencing
GTP'