Výsledky vyhledávání - "Laura Sack"

Akademický článek

P453: Diagnostic yield of copy number variants by exome sequencing vs chromosomal microarray

Autor: Ganka Douglas, Jeanne Meck, Lindsay Havens Dyer, Rhonda Brandon, Lisa Dyer, Patricia Fernandez Ferri, Mingjuan Liao, Shuxi Liu, Ludmila Matyakhina, Evica Rajcan-Separovic, Laura Sack, May Sanyoura, Wei Wang, Paul Kruszka

Publikováno v: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100500- (2023)

Externí odkaz: https://doaj.org/article/d954158160c74fa187360331d5abe6cb

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eP390: Leveraging unique chromosomal microarray probes to resolve complex copy number variation at the highly homologous deafness-infertility syndrome locus at 15q15.3

Autor: Laura Sack, Lauren Mertens, Elissa Murphy, Laura Hutchinson, Anne Giersch, Heather Mason-Suares

Publikováno v: Genetics in Medicine. 24:S246

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7d14b82cad826b4f3db1b47f0a643803
https://doi.org/10.1016/j.gim.2022.01.425

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Leveraging unique chromosomal microarray probes to accurately detect copy number at the highly homologous 15q15.3 deafness-infertility syndrome locus

Autor: Lauren Mertens, Anne Giersch, Heather Mason-Suares, Laura Sack, Elissa Murphy

Publikováno v: Molecular Genetics and Metabolism. 132:S265-S266

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b9f410b1f2a30b29c4af795659eae3fd
https://doi.org/10.1016/s1096-7192(21)00491-1

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