Результати пошуку - Mayada Helal
- Показ 1 - 2 результатів із 2
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1
Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures за авторством Tiong Yang Tan, Jiří Sedmík, Mark P. Fitzgerald, Rivka Sukenik‐Halevy, Liam P. Keegan, Ingo Helbig, Lina Basel‐Salmon, Lior Cohen, Rachel Straussberg, Wendy K. Chung, Mayada Helal, Reza Maroofian, Henry Houlden, Jane Juusola, Simon Sadedin, Lynn Pais, Katherine B. Howell, Susan M. White, John Christodoulou, Mary A. O’Connell
Опубліковано 2020Artigo -
2
Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine за авторством Dimitri J. Stavropoulos, Daniele Merico, Rebekah Jobling, Sarah Bowdin, Nasim Monfared, Bhooma Thiruvahindrapuram, Thomas Nalpathamkalam, Giovanna Pellecchia, Ryan K. C. Yuen, Michael J. Szego, Robin Z. Hayeems, Randi Zlotnik Shaul, Michael Brudno, Marta Gîrdea, Brendan J. Frey, Babak Alipanahi, Sohnee Ahmed, Riyana Babul‐Hirji, Ramses Badilla Porras, Melissa T. Carter, Lauren Chad, Ayeshah Chaudhry, David Chitayat, Soghra Jougheh Doust, Cheryl Cytrynbaum, Lucie Dupuis, Resham Ejaz, Leona Fishman, Andrea Guerin, Bita Hashemi, Mayada Helal, Stacy Hewson, Michal Inbar‐Feigenberg, Pekka Kannus, Natalya Karp, Raymond H. Kim, Jonathan B. Kronick, Eriskay Liston, H. Robson MacDonald, Saadet Mercimek‐Mahmutoglu, Roberto Mendoza‐Londono, Enas Nasr, Graeme Nimmo, Nicole Parkinson, Nada Quercia, Julian Raiman, Maian Roifman, Andreas Schulze, Andrea Shugar, Cheryl Shuman, Pierre Sinajon, Komudi Siriwardena, Rosanna Weksberg, Grace Yoon, Chris Carew, Raith Erickson, Richard A. Leach, Robert J. Klein, Peter N. Ray, M. Stephen Meyn, Stephen W. Scherer, Ronald D. Cohn, Christian R. Marshall
Опубліковано 2016Artigo
Інструменти для пошуку:
Пов'язані теми
Biology
Gene
Genetics
Allele
Bioinformatics
Computational biology
Copy-number variation
DNA sequencing
Epilepsy
Genetic testing
Genome
Genotype
Human genetics
Indel
Intellectual disability
Medical genetics
Medicine
Microcephaly
Missense mutation
Mutation
Neuroscience
RNA
RNA editing
Single-nucleotide polymorphism
Whole genome sequencing