Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Huong Cabral"'
Autor:
Gloria Haskell, Hussain Askree, Laura Kline, Quoc-Huong Cabral, Linda Hasadri, Inder Gadi, Stuart Schwartz
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100526- (2023)
Externí odkaz:
https://doaj.org/article/4292aeb23fe04dc284d9fdfade3391e1
Autor:
Katarzyna Polonis, Jaime L. Lopes, Huong Cabral, Holly E. Babcock, Laura Kline, Kaylee M. Ruiz, Stuart Schwartz, Linda Hasadsri, Ross A. Rowsey, Nicole L. Hoppman
Publikováno v:
American Journal of Medical Genetics Part A.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c525830d4a2d5e28ed486a94cc847ba4
https://doi.org/10.1002/ajmg.a.63224
https://doi.org/10.1002/ajmg.a.63224
Autor:
Katarzyna Polonis, Jaime L. Lopes, Huong Cabral, Linda Hasadsri, Ross A. Rowsey, Nicole L. Hoppman
Publikováno v:
Cancer Genetics. :5-6
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::620dc674a76cb0897c42cb354bfa702a
https://doi.org/10.1016/j.cancergen.2022.05.019
https://doi.org/10.1016/j.cancergen.2022.05.019
Publikováno v:
Molecular Genetics and Metabolism. 132:S234
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b9b9c9145bf6de1a157877bc841f6606
https://doi.org/10.1016/s1096-7192(21)00445-5
https://doi.org/10.1016/s1096-7192(21)00445-5
Autor:
Luis Rohena, Hiba Risheg, Golder N. Wilson, Andrea Penton, Justin Schleede, Rachel D. Burnside, Huong Cabral, Krishna K. Yelavarthi
Publikováno v:
American Journal of Medical Genetics Part A. 167:695-700
Deletions in the middle portion of 11q are not as well described in the literature as terminal 11q deletions that result in Jacobsen syndrome. One confounding factor in the older literature is that the G-banding pattern of 11q13q21 is very similar to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6a8faa19e4c3378859f43f82bcf988c
https://doi.org/10.1002/ajmg.a.36956
https://doi.org/10.1002/ajmg.a.36956
Autor:
Peter Papenhausen, Inder K. Gadi, Mary K. Rudd, Karen Phillips, Stuart Schwartz, Justin Schleede, James Tepperberg, Romela Pasion, Rachel D. Burnside, Huong Cabral
Publikováno v:
American Journal of Obstetrics and Gynecology. 218:S58-S59
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5cf0c8abf33e1b975a6ed7d826f2ccdd
https://doi.org/10.1016/j.ajog.2017.10.491
https://doi.org/10.1016/j.ajog.2017.10.491
Autor:
Brian Williford, Vik Jaswaney, James Tepperberg, Laura Kline, Jenny Shafer, Peter Papenhausen, Inder K. Gadi, Sharon Molinari, Karen Phillips, Rachel D. Burnside, Huong Cabral, Stuart Schwartz, Andrea Penton, Romela Pasion, Margriet Johansen
Publikováno v:
Cancer Genetics. 209:233-234
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5f18b4fe739a3e81ac6daaeb605bb225
https://doi.org/10.1016/j.cancergen.2016.05.014
https://doi.org/10.1016/j.cancergen.2016.05.014
Autor:
Debra Rita, Larry White, Ashley Wilson, Kenneth J. Friedman, Val V. Zvereff, Huong Cabral, Lori Carpenter, Dagny Patton, Kwame Anyane-Yeboa
Publikováno v:
Braindevelopment. 34(9)
Rett syndrome (OMIM 312750) is a progressive, X-linked neurodevelopmental disorder caused by mutations in the MECP2 gene located on chromosome Xq28. The disorder is characterized by a period of normal development during the first 6-18months of life,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60ffed020de1f868819018b2bc9e9be9
https://pubmed.ncbi.nlm.nih.gov/22277191
https://pubmed.ncbi.nlm.nih.gov/22277191