Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Vidya P. Mehta"'
Autor:
Daniel G. Calame, Jawid M. Fatih, Isabella Herman, Zeynep Coban‐Akdemir, Haowei Du, Tadahiro Mitani, Shalini N. Jhangiani, Dana Marafi, Richard A. Gibbs, Jennifer E. Posey, Vidya P. Mehta, Carrie A. Mohila, Farida Abid, Timothy E. Lotze, Davut Pehlivan, Adekunle M. Adesina, James R. Lupski
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 8, Iss 10, Pp 2052-2058 (2021)
Abstract Exome sequencing (ES) has revolutionized rare disease management, yet only ~25%–30% of patients receive a molecular diagnosis. A limiting factor is the quality of available phenotypic data. Here, we describe how deep clinicopathological ph
Externí odkaz:
https://doaj.org/article/cb34fe521e7d4c82ae7f6de309954374
Autor:
Joshua Manor, Daniel G. Calame, Charul Gijavanekar, Alyssa Tran, Jawid M. Fatih, Seema R. Lalani, Elizabeth Mizerik, Mered Parnes, Vidya P. Mehta, Adekunle M. Adesina, James R. Lupski, Fernando Scaglia, Sarah H. Elsea
Publikováno v:
Brain : a journal of neurology. 145(5)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8614d3e1acb896555488fd04a98bc3dd
https://pubmed.ncbi.nlm.nih.gov/35254397
https://pubmed.ncbi.nlm.nih.gov/35254397