Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Kathleen Steinberg"'
Autor:
Rebecca Burns, Kristin Niendorf, Kathleen Steinberg, Amy Mueller, Ina Ly, Justin T. Jordan, Scott R. Plotkin, Stephanie R. Hicks
Publikováno v:
American Journal of Medical Genetics Part A. 188:2413-2420
Neurofibromatosis type 2 (NF2) and schwannomatosis (SWN) have distinct genetic etiologies but overlapping phenotypes. Genetic testing may be required for accurate diagnosis, which is critical for determining prognosis, screening recommendations, and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2406ed800002c20d94c7357a37a8830
https://doi.org/10.1002/ajmg.a.62845
https://doi.org/10.1002/ajmg.a.62845
Autor:
Abigail Sassaman, Kathryn J. Gray, Lori Dobson, Michelle Pacione, Nancy J. Herrig, Lisa Dunn-Albanese, Sophie Adams, Samantha Gbur, Stephanie H. Guseh, Hayley Green, Chelsea Mandigo, Sarah B. Carroll, Kathleen Steinberg, Marie Discenza, Anjali J Kaimal, Judith Foster, Courtney Studwell, Marney Brillinger, Louise Wilkins-Haug, Penelope A. Roberts
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 23(7)
Copy-number variant (CNV) assessment is recommended for patients undergoing prenatal diagnostic testing. Noninvasive screening tests have not been extensively validated for CNV detection. The objective of this study was to compare the ability of geno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2956a686ecd47bf84bd6bce50d3aa53a
https://pubmed.ncbi.nlm.nih.gov/33782554
https://pubmed.ncbi.nlm.nih.gov/33782554