-
1دورية أكاديمية
المؤلفون: Courtney Thaxton, Leslie Biesecker, Marina DiStefano, Melissa Haendel, Emma Owens, Ada Hamosh, Sharon Plon, Heidi Rehm, Jonathan Berg
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101052- (2024)
وصف الملف: electronic resource
-
2دورية أكاديمية
المؤلفون: Marina DiStefano, Fowzan Alkuraya, Joanna Amberger, Christina Austin-Tse, Ola Austine, Marie Balzotti, Jonathan Berg, Elspeth Bruford, Alicia Byrne, Elena Cibrian-Uhalte, Alison Coffey, Helen Firth, Ada Hamosh, Sarah Hunt, Teri Klein, Catherine Kurtz, Sarah Leigh, Ivone Leong, Caterina Lucano, Sateesh Maddirevula, Audrey O'Neill, Arina Puzriakova, Ana Rath, Angharad Roberts, Kelly Radtke, Erin Ramos, Erin Riggs, Charlotte Rodwell, Julie Taylor, Katrin Sangkuhl, Catherine Snow, Zornitza Stark, James Ware, Bess Wayburn, Phillip Weller, Heidi Rehm
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101476- (2024)
وصف الملف: electronic resource
-
3دورية أكاديمية
المؤلفون: Pamela Ajuyah Robertson, Alicia Byrne, Julie Ratliff, Audrey O'Neill, Marina DiStefano, Deepika Burkardt, Carlos Ferreira, Kerry Brown
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101580- (2024)
وصف الملف: electronic resource
-
4دورية أكاديمية
المؤلفون: Ineke Cordova, Zo Bly, Jonathan Berg, Joanna Bulkley, Marina DiStefano, Teri Klein, Joannella Morales, Deborah Ritter, Erin Riggs
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101791- (2024)
وصف الملف: electronic resource
-
5دورية أكاديمية
المؤلفون: Marina DiStefano, Ryan Webb, Hannah McCurry, Shannon McNulty Gray, Swati Tomar, Prasad Kopparapu, Eleanor Broeren, Kezang Tshering, Alan Beggs, Enrico Silvio Bertini, Adele D'Amico, Sandra Donkervoort, James Dowling, Fabiana Fattori, Ana Ferreiro, Casie Genetti, Hernan Gonorazky, Svetlana Gorokhova, Amanda Lindy, Livija Medne, Sander Pajusalu, Katarina Pelin, John Rendu, Matteo Vatta, Tom Winder, Hui Yang, Grace Yoon, Ozge Ceyhan-Birsoy, Carsten Bönnemann
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100499- (2023)
وصف الملف: electronic resource
-
6دورية أكاديميةP451: The Gene Curation Coalition works to resolve discrepancies in gene-disease validity assertions
المؤلفون: Marina DiStefano, Joanna Amberger, Christina Austin-Tse, Marie Balzotti, Mutaz Amin, Jonathan Berg, Carol Bocchini, Elspeth Bruford, Fowzan Alkuraya, Alison Coffey, Heather Collins, Fiona Cunningham, Helen Firth, David Fitzpatrick, Yaron Einhorn, Jennifer Goldstein, Ada Hamosh, Sarah Leigh, Ivone Leong, Christa Martin, Ellen McDonagh, Arina Puzriakova, Ana Rath, Angharad Roberts, Kelly Radtke, Erin Ramos, Erin Riggs, Charlotte Rodwell, Katrin Sangkuhl, Catherine Snow, Zornitza Stark, Jackie Tahiliani, James Ware, Eleanor Williams, Caroline Wright, Michael Yates, Phillip Weller, Heidi Rehm
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100498- (2023)
وصف الملف: electronic resource
-
7دورية أكاديمية
المؤلفون: Matthew Wright, Christine Preston, Karen Dalton, Gloria Cheung, Mark Mandell, Bryan Wulf, Lawrence Babb, Marina DiStefano, Steven Harrison, Clarissa Klein, Rachel Shapira, Ingrid Keseler, Deborah Ritter, Neethu Shah, Kevin Riehle, Aleksandar Milosavljevic, Sharon Plon, Teri Klein
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100738- (2023)
وصف الملف: electronic resource
-
8دورية أكاديمية
المؤلفون: Christine G. Preston, Matt W. Wright, Rao Madhavrao, Steven M. Harrison, Jennifer L. Goldstein, Xi Luo, Hannah Wand, Bryan Wulf, Gloria Cheung, Mark E. Mandell, Howard Tong, Shaung Cheng, Michael A. Iacocca, Arturo Lopez Pineda, Alice B. Popejoy, Karen Dalton, Jimmy Zhen, Selina S. Dwight, Lawrence Babb, Marina DiStefano, Julianne M. O’Daniel, Kristy Lee, Erin R. Riggs, Diane B. Zastrow, Jessica L. Mester, Deborah I. Ritter, Ronak Y. Patel, Sai Lakshmi Subramanian, Aleksander Milosavljevic, Jonathan S. Berg, Heidi L. Rehm, Sharon E. Plon, J. Michael Cherry, Carlos D. Bustamante, Helio A. Costa, on behalf of the Clinical Genome Resource (ClinGen)
المصدر: Genome Medicine, Vol 14, Iss 1, Pp 1-12 (2022)
مصطلحات موضوعية: Variant curation, Precision medicine, Clinical genetics, Clinical Genome Resource Consortium, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1756-994X
-
9دورية أكاديمية
المؤلفون: Ozlem Senol-Cosar, Rachel J. Roth Flach, Marina DiStefano, Anil Chawla, Sarah Nicoloro, Juerg Straubhaar, Olga T. Hardy, Hye Lim Noh, Jason K. Kim, Martin Wabitsch, Philipp E. Scherer, Michael P. Czech
المصدر: Nature Communications, Vol 7, Iss 1, Pp 1-13 (2016)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
-
10
المؤلفون: Marilyn M. Li, Ahmad Abou Tayoun, Marina DiStefano, Arti Pandya, Heidi L. Rehm, Nathaniel H. Robin, Amanda M. Schaefer, Christine Yoshinaga-Itano
المصدر: Genetics in Medicine. 24:1392-1406
مصطلحات موضوعية: Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a5456d7ada40683f387655a2f1e922b2
https://doi.org/10.1016/j.gim.2022.03.018