Zobrazeno 1 - 3
of 3
pro vyhledávání: '"DEIRDRE COLGAN"'
Publikováno v:
Chest. 162:A2468
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::36d1e3d81d1998f39bed6c8f85f43088
https://doi.org/10.1016/j.chest.2022.08.2021
https://doi.org/10.1016/j.chest.2022.08.2021
Autor:
Raju Kucherlapati, Robert J. Shprintzen, Deirdre Colgan, Nuria AbdulSabur, Anne Marie Higgins, Wendy R. Kates, Wanda Fremont, Kevin M. Antshel, Birgit Funke
Publikováno v:
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. :274-280
Caused by a microdeletion at the q11.2 locus of chromosome 22, velo-cardio-facial syndrome (also known as VCFS, 22q11 deletion syndrome, DiGeorge sequence, and conotruncal anomalies face syndrome) is associated with a distinctive physical, neurocogni
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ca1b89cdc9012f0df29b1f17341e5e9
https://doi.org/10.1002/ajmg.b.30284
https://doi.org/10.1002/ajmg.b.30284
Autor:
Deirdre Colgan, Wendy R. Kates, Nuria AbdulSabur, Beth R. Krauss, Anne Marie Higgins, Robert J. Shprintzen, Kevin M. Antshel
Publikováno v:
Neuropsychologia. 45(12)
Velocardiofacial syndrome (VCFS), also known as 22q11.2 deletion syndrome, is a neurogenetic disorder that is associated with both learning disabilities and a consistent neuropsychological phenotype, including deficits in executive function, visuospa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2d8504ca6f687d9d30243229bc3bc74
https://pubmed.ncbi.nlm.nih.gov/17618656
https://pubmed.ncbi.nlm.nih.gov/17618656