Zobrazeno 1 - 5 of 5 pro vyhledávání: '"Trisha Miglani"'
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Akademický článek
Ehlers-Danlos syndromes and their manifestations in the visual system
Autor: Samuel Asanad, May Bayomi, Douglas Brown, Joshua Buzzard, Eric Lai, Carlthan Ling, Trisha Miglani, Taariq Mohammed, Joby Tsai, Olivia Uddin, Eric Singman
Publikováno v: Frontiers in Medicine, Vol 9 (2022)
Ehlers-Danlos syndrome (EDS) is a rare, genetically variable, heterogenous group of (currently recognized) thirteen connective tissue disorders characterized by skin hyperextensibility, tissue fragility, and generalized joint hypermobility. In additi
Externí odkaz: https://doaj.org/article/4c10620d6f274e52aeedabb7baaddda4
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5
MACE2K: A Text-Mining Tool to Extract Literature-based Evidence for Variant Interpretation using Machine Learning
Autor: Subha Madhavan, Yasaswini Iyer, Ifeoma Ikwuemesi, Shannon M. McNulty, Junxia Lin, Ahson M. Saiyed, Shruti Rao, Courtney Thaxton, Trisha Miglani, Samir Gupta
Interpretation of a given variant’s pathogenicity is one of the most profound challenges to realizing the promise of genomic medicine. A large amount of information about associations between variants and diseases used by curators and researchers f
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::972c6fa7d5c1094e90dad264d436933a
https://doi.org/10.1101/2020.12.03.409094
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Plný text Recenzováno Digitální knihovna AV ČR
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