Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Sarah L. Bick"'
Autor:
Nina B. Gold, Sophia M. Adelson, Nidhi Shah, Shardae Williams, Sarah L. Bick, Emilie S. Zoltick, Jessica I. Gold, Alanna Strong, Rebecca Ganetzky, Amy E. Roberts, Melissa Walker, Alexander M. Holtz, Vijay G. Sankaran, Ottavia Delmonte, Weizhen Tan, Ingrid A. Holm, Jay R. Thiagarajah, Junne Kamihara, Jason Comander, Emily Place, Janey Wiggs, Robert C. Green
Publikováno v:
JAMA Network Open. 6:e2312231
ImportanceNewborn genome sequencing (NBSeq) can detect infants at risk for treatable disorders currently undetected by conventional newborn screening. Despite broad stakeholder support for NBSeq, the perspectives of rare disease experts regarding whi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ea1a001b5f3192f4420a9ebf436af2ed
https://doi.org/10.1001/jamanetworkopen.2023.12231
https://doi.org/10.1001/jamanetworkopen.2023.12231
Publikováno v:
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
More than 4,000 genes have been associated with recognizable Mendelian/monogenic diseases. When faced with a new diagnosis of a rare genetic disorder, health care providers increasingly turn to internet resources for information to understand the dis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7983ecae6e7007281e9781a62233675
http://europepmc.org/articles/PMC7986124
http://europepmc.org/articles/PMC7986124
Publikováno v:
Journal of the Endocrine Society
Background: McCune-Albright syndrome (MAS) is a well described genetic syndrome characterized by café-au-lait spots, polyostotic fibrous dysplasia, and hyperfunctioning endocrinopathies. Hyperthyroidism is a common endocrine manifestation of MAS, bu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08be40813b8636e90252a361cdd3ac88
https://doi.org/10.1210/jendso/bvaa046.1489
https://doi.org/10.1210/jendso/bvaa046.1489
Publikováno v:
Journal of assisted reproduction and genetics. 25(7)
To aid couples wishing to conceive children who are HLA matched to a sibling in need of a hematopoietic progenitor cell transplant, we developed a preimplantation HLA haplotype analysis of embryos that utilizes tri-, tetra-, and pentanucleotide STR m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51d00b0600420e2178b6ca43b21a5d6e
https://pubmed.ncbi.nlm.nih.gov/18677557
https://pubmed.ncbi.nlm.nih.gov/18677557