Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Nicole Hoppman"'
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101570- (2024)
Externí odkaz:
https://doaj.org/article/b4bbaef0c2094153b8f7f5cfdd3500e0
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101723- (2024)
Externí odkaz:
https://doaj.org/article/8a73e14fa34241e4a4c14a2d069a65b8
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100510- (2023)
Externí odkaz:
https://doaj.org/article/d669456edb074d73808e63cf4ebd7152
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100520- (2023)
Externí odkaz:
https://doaj.org/article/f677779a8f2d47d5a65d22a045e3c0ba
Autor:
Heidi Cope, Hayk Barseghyan, Surajit Bhattacharya, Yulong Fu, Nicole Hoppman, Cherisse Marcou, Nicole Walley, Catherine Rehder, Kristen Deak, Anna Alkelai, Undiagnosed Diseases Network, Eric Vilain, Vandana Shashi
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 7, Pp n/a-n/a (2021)
ABSTRACT Background Currently available structural variant (SV) detection methods do not span the complete spectrum of disease‐causing SVs. Optical genome mapping (OGM), an emerging technology with the potential to resolve diagnostic dilemmas, was
Externí odkaz:
https://doaj.org/article/760a42d7a4b3411d8e613729a17fc702
Autor:
Cinthya Zepeda‐Mendoza, McKinsey L. Goodenberger, Ashley Kuhl, Gregory M. Rice, Nicole Hoppman
Publikováno v:
Clinical Case Reports, Vol 7, Iss 6, Pp 1154-1160 (2019)
Abstract We report a two‐generation family with four females harboring an 8.5Mb heterozygous deletion of 5q15‐q21.2 who present with dysmorphic craniofacial features and speech delay. We hypothesize haploinsufficiency of CHD1 to be contributing t
Externí odkaz:
https://doaj.org/article/d7a5ae1ed0cd40d4baac3c82ab6f0a78
Autor:
Marie-France Gagnon, James Smadbeck, Neeraj Sharma, Patrick Blackburn, Jonna Demasi Benevides, Yassmine Akkari, Jennifer Jaroscak, Iya Znoyko, Daynna Wolff, Cynthia Schandl, Reid Meyer, Patricia Greipp, Xinjie Xu, Nicole Hoppman, Rhett Ketterling, Jess Peterson, Linda Baughn
Publikováno v:
Cancer Genetics. :25-26
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9fb61b891d22fd21b6c2f3a8b2477dc1
https://doi.org/10.1016/j.cancergen.2022.10.081
https://doi.org/10.1016/j.cancergen.2022.10.081
Autor:
Lauren A. Choate, Francis Hoffman, Jessica Newman, Cassandra Runke, Matthew Webley, Nicole Hoppman, Erik Thorland
Publikováno v:
Cancer Genetics. :6-7
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5db474743c6a5252a60b477760d88dac
https://doi.org/10.1016/j.cancergen.2022.05.022
https://doi.org/10.1016/j.cancergen.2022.05.022
Autor:
Daynna Wolff, Yassmine Akkari, Linda Baughn, Nicole Hoppman, John Herriges, Denise Quigley, Gordana Raca, Cynthia Schandl, Lina Shao, Iya Znoyko
Publikováno v:
Cancer Genetics. :1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::33ff72758b45edf03bd61d5a7a76146a
https://doi.org/10.1016/j.cancergen.2022.10.004
https://doi.org/10.1016/j.cancergen.2022.10.004
Autor:
Alaa Koleilat, Cynthia Williamson, Joanna Benevides Demasi, Crystal Golden, Xinje Xu, Patricia Greipp, Rhett Ketterling, Nicole Hoppman, Jess Peterson, Linda Baughn
Publikováno v:
Cancer Genetics. :8
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c6f2b214773e5bbcdcf2e688d22ea7e7
https://doi.org/10.1016/j.cancergen.2021.05.036
https://doi.org/10.1016/j.cancergen.2021.05.036