Risultati della ricerca - Hazel Perry
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1
<i>DLX4</i>is associated with orofacial clefting and abnormal jaw development di Di Wu, Shyamali Mandal, Alex Choi, A. Anderson, Michaela Procházková, Hazel Perry, Vera Lúcia Gil‐da‐Silva‐Lopes, Richard Lao, Eunice Wan, Paul Ling-Fung Tang, Pui‐Yan Kwok, Ophir D. Klein, Zhuan Bian, Anne Slavotinek
Pubblicazione 2015Artigo -
2
Application of full-genome analysis to diagnose rare monogenic disorders di Joseph T.C. Shieh, Monica Penon‐Portmann, K. Wong, Michal Levy‐Sakin, Michelle Verghese, Anne Slavotinek, Renata C. Gallagher, Bryce A. Mendelsohn, Jessica Tenney, Daniah Beleford, Hazel Perry, Stephen K. Chow, Andrew G. Sharo, Steven E. Brenner, Zhongxia Qi, Jingwei Yu, Ophir D. Klein, David I. K. Martin, Pui‐Yan Kwok, Dario Boffelli
Pubblicazione 2021Artigo -
3
An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery di Alireza Haghighi, Joel B. Krier, Ágnes Tóth-Petróczy, Christopher A. Cassa, Natasha Y. Frank, Nikkola Carmichael, Elizabeth L. Fieg, Andrew Bjonnes, Anwoy Kumar Mohanty, Lauren C. Briere, Sharyn A. Lincoln, Stephanie Lucia, Vandana Gupta, Onuralp Söylemez, Sheila Sutti, Kameron Kooshesh, Haiyan Qiu, Christopher J. Fay, Victoria Perroni, Jamie Valerius, Meredith Hanna, Alexander Frank, Jodie Ouahed, Scott B. Snapper, Angeliki Pantazi, Sameer S. Chopra, Ignaty Leshchiner, Nathan O. Stitziel, Anna M. Feldweg, Michael Mannstadt, Joseph Loscalzo, David A. Sweetser, Eric C. Liao, Joan M. Stoler, C. Nowak, Pedro A. Sanchez‐Lara, Ophir D. Klein, Hazel Perry, Nikolaos A. Patsopoulos, Soumya Raychaudhuri, Wolfram Goessling, Robert C. Green, Christine E. Seidman, Calum A. MacRae, Shamil R. Sunyaev, Richard L. Maas, Dana Vuzman
Pubblicazione 2018Revisão
Strumenti per la ricerca:
Soggetti correlati
Biology
Exome sequencing
Gene
Genetics
Mutation
Computational biology
Exome
Genome
Whole genome sequencing
Bioinformatics
Breakpoint
Chromosome
Computer science
Crowdsourcing
DLX5
DNA sequencing
Disease
Economics
Gene expression
Gene family
Genomics
Haploinsufficiency
Homeobox
Management science
Medicine
Mendelian inheritance
Pathology
Phenotype
Prioritization
Sanger sequencing