Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Anna Baquero"'
Autor:
Halima Al-Shehhi, Ahlam Gabr, Intisar Al-Haddabi, Raquel Tena, Anna Baquero, Watfa Al-Maamari, Almundher Al-Maawali
Publikováno v:
Oman Medical Journal, Vol 34, Iss 5, Pp 460-463 (2019)
Intellectual disability (ID) is the most common diagnosis noted among children with genetic disorders. It causes social and economic burden to families and communities. The genetic causes are not completely understood, and there is significant hetero
Externí odkaz:
https://doaj.org/article/4eb916e8b52f4c5cb77d88e3a4501082
Autor:
Benjamín Cárcamo, Barbara Masotto, Anna Baquero-Vaquer, Delia Ceballos-Saenz, Eugenio Zapata-Aldana
Publikováno v:
European Journal of Medical Genetics. 65:104600
Coffin-Siris syndrome (CSS) is a rare neurodevelopmental and multisystemic disorder with wide genetic heterogeneity and phenotypic variability caused by pathogenic variants in the BAF complex with 341 cases enrolled in the CSS/BAF-related disorders r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c6142e1b384be0b04cb52104659b7a6
https://doi.org/10.1016/j.ejmg.2022.104600
https://doi.org/10.1016/j.ejmg.2022.104600
Autor:
Ahlam Gabr, Raquel Tena, Halima Al-Shehhi, Almundher Al-Maawali, Watfa Al-Maamari, Intisar Al-Haddabi, Anna Baquero
Publikováno v:
Oman Medical Journal
Oman Medical Journal, Vol 34, Iss 5, Pp 460-463 (2019)
Oman Medical Journal, Vol 34, Iss 5, Pp 460-463 (2019)
Intellectual disability (ID) is the most common diagnosis noted among children with genetic disorders. It causes social and economic burden to families and communities. The genetic causes are not completely understood, and there is significant hetero
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f2c319303aff035a57360ef9a3ea78a
http://europepmc.org/articles/PMC6745418
http://europepmc.org/articles/PMC6745418