Canlyniadau Chwilio - Dylan Mordaunt
- Dangos 1 - 4 canlyniadau o 4
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A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders gan Zornitza Stark, Tiong Yang Tan, Belinda Chong, Gemma R. Brett, Patrick Yap, Maie Walsh, Alison Yeung, Heidi Peters, Dylan Mordaunt, Shannon Cowie, David J. Amor, Ravi Savarirayan, George McGillivray, Lilian Downie, Paul G. Ekert, Christiane Theda, Paul A. James, Joy Yaplito‐Lee, Monique M. Ryan, Richard J. Leventer, Emma Creed, Ivan Macciocca, Katrina M. Bell, Alicia Oshlack, Simon Sadedin, Peter Georgeson, Charlotte Anderson, Natalie Thorne, Clara Gaff, Susan M. White
Cyhoeddwyd 2016Artigo -
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High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer gan Illja J. Diets, Esmé Waanders, Marjolijn J. L. Ligtenberg, Diede A.G. van Bladel, Eveline J. Kamping, Peter M. Hoogerbrugge, Saskia Hopman, Maran J.W. Olderode-Berends, Erica H. Gerkes, David A. Koolen, Carlo Marcelis, Gijs W.E. Santen, Martine J. van Belzen, Dylan Mordaunt, Lesley McGregor, Elizabeth Thompson, Antonis Kattamis, Agata Pastorczak, Wojciech Młynarski, Denisa Ilenčíková, Anneke Vulto- van Silfhout, Thatjana Gardeitchik, Eveline S. de Bont, Jan Loeffen, Anja Wagner, Arjen R. Mensenkamp, Roland P. Kuiper, Nicoline Hoogerbrugge, Marjolijn C.J. Jongmans
Cyhoeddwyd 2018Artigo
Offerynnau Chwilio:
Pynciau Perthynol
Biology
Medicine
Genetics
Exome sequencing
Gene
Internal medicine
Mutation
Biochemistry
Bioinformatics
Cancer
Chemistry
Computational biology
Energy metabolism
Exome
Genetic testing
Germline
Germline mutation
Inborn error of metabolism
Intellectual disability
Metabolomics
Pediatrics
Pregnancy
Prospective cohort study
Singleton