المؤلفون: Marina T. DiStefano, Scott Goehringer, Lawrence Babb, Fowzan S. Alkuraya, Joanna Amberger, Mutaz Amin, Christina Austin-Tse, Marie Balzotti, Jonathan S. Berg, Ewan Birney, Carol Bocchini, Elspeth A. Bruford, Alison J. Coffey, Heather Collins, Fiona Cunningham, Louise C. Daugherty, Yaron Einhorn, Helen V. Firth, David R. Fitzpatrick, Rebecca E. Foulger, Jennifer Goldstein, Ada Hamosh, Matthew R. Hurles, Sarah E. Leigh, Ivone US. Leong, Sateesh Maddirevula, Christa L. Martin, Ellen M. McDonagh, Annie Olry, Arina Puzriakova, Kelly Radtke, Erin M. Ramos, Ana Rath, Erin Rooney Riggs, Angharad M. Roberts, Charlotte Rodwell, Catherine Snow, Zornitza Stark, Jackie Tahiliani, Susan Tweedie, James S. Ware, Phillip Weller, Eleanor Williams, Caroline F. Wright, T Michael. Yates, Heidi L. Rehm

المساهمون: Wellcome Trust, British Heart Foundation

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 24(8)

مصطلحات موضوعية: Genetics & Heredity, GenCC, 0604 Genetics, Genetic Variation, 1103 Clinical Sciences, Genomics, Gene curation, Database, Genetic diagnosis, The Gene Curation Coalition, Databases, Genetic, Humans, Genetic Testing, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db382453c45f9da4d860229092aac16cTest
https://pubmed.ncbi.nlm.nih.gov/35507016Test

المؤلفون: Amy C, Sturm, Joshua W, Knowles, Samuel S, Gidding, Zahid S, Ahmad, Catherine D, Ahmed, Christie M, Ballantyne, Seth J, Baum, Mafalda, Bourbon, Alain, Carrié, Marina, Cuchel, Sarah D, de Ferranti, Joep C, Defesche, Tomas, Freiberger, Ray E, Hershberger, G Kees, Hovingh, Lala, Karayan, Johannes Jacob Pieter, Kastelein, Iris, Kindt, Stacey R, Lane, Sarah E, Leigh, MacRae F, Linton, Pedro, Mata, William A, Neal, Børge G, Nordestgaard, Raul D, Santos, Mariko, Harada-Shiba, Eric J, Sijbrands, Nathan O, Stitziel, Shizuya, Yamashita, Katherine A, Wilemon, David H, Ledbetter, Daniel J, Rader

المصدر: Journal of the American College of Cardiology. 72(6):662-680

مصطلحات موضوعية: Hyperlipoproteinemia Type II, Receptors, LDL, Humans, Genetic Counseling, Genetic Testing, Proprotein Convertase 9, Expert Testimony, Apolipoproteins B

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::ac55bd35969afcd56724d07283afd34eTest
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85050353019&origin=inwardTest