検索結果 - Heather Baudet

P546: Assessment of inborn errors of metabolism genes on the Recommended Uniform Screening Panel using the ClinGen Clinical Validity framework 著者: Matheus Wilke, William Hankey, Joshua Lowry, Justyne Ross, Emily Brown Reeves, Raquel Fernandez, Meredith Weaver, Heather Baudet, Annette Feigenbaum, Christina Hung, Elaine Spector, William Craigen, Jennifer Goldstein

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P252: Development of a scoring system to define lysosomal diseases 著者: Matheus Wilke, Jenny Goldstein, Emily Groopman, Shruthi Mohan, Amber Waddell, Raquel Fernandez, Hongjie Chen, Deeksha Bali, Heather Baudet, Lorne Clarke, Christina Hung, Rong Mao, Tatiana Yuzyuk, William Craigen, Filippo Pinto e Vairo

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P687: Variant classification discrepancies in the ACADVL gene 著者: Alexa Dickson, May Flowers, Marcus Miller, Elaine Spector, Gregory Enns, Heather Baudet, Marzia Pasquali, Lemuel Racacho, Kianoush Sadre-Bazzaz, Ting Wen, Melissa Fogarty, Raquel Fernandez, Meredith Weaver, Annette Feigenbaum, Brett Graham, Rong Mao

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P325: The ClinGen Congenital Disorders of Glycosylation Gene Curation Expert Panel 著者: Robin Larson, Raquel Fernandez, Carlos Ferreira, Hudson Freeze, Matthew Wilson, Dulce Quelhas, Jennifer Goldstein, Christina Lam, Bobby Ng, Heather Baudet, Daniel Beltran, Hongjie Chen, Andrew Edmondson, Miao He, Essence Kendall, Lois Lander, Jennifer McGlaughon, Eva Morava-Kosicz, Monica Penon Portmann, Jenny Thies, Meredith Weaver

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