Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Saumya Jamuar"'
Publikováno v:
PLOS Digital Health, Vol 2, Iss 3 (2023)
Rare diseases pose a diagnostic conundrum to even the most experienced clinicians around the world. The technology could play an assistive role in hastening the diagnosis process. Data-driven methodologies can identify distinctive disease features an
Externí odkaz:
https://doaj.org/article/e5e702eea272474b9ad345cb7da977b2
Autor:
R. Ryanne Wu, Rehena Sultana, Yasmin Bylstra, Saumya Jamuar, Sonia Davila, Weng Khong Lim, Geoffrey S. Ginsburg, Lori A. Orlando, Khung Keong Yeo, Stuart A. Cook, Patrick Tan
Publikováno v:
Preventive Medicine Reports, Vol 18, Iss , Pp - (2020)
Information technology applications for patient-collection of family health history (FHH) increase identification of elevated-risk individuals compared to usual care. It is unknown if the method of collection impacts data collected or if simply going
Externí odkaz:
https://doaj.org/article/6072f03b04f2468faffe6be7da0487fc
Autor:
Elyn Y.-L. Tzen, Jiin Yin Lim, Sue Mei Cheah, Jonathan T.L. Choo, Sylvia Kam, Zhi Min Ng, Biju Thomas, Saumya Jamuar, Ai Ling Koh, Ene-Choo Tan
Publikováno v:
Molecular Syndromology. 14:21-29
Background: Cardiofaciocutaneous syndrome (CFCS) is a rare genetic condition caused by mutations in BRAF, KRAS, MAP2K1, or MAP2K2. It is characterized by ectodermal abnormalities, cardiac defects, intellectual disability, and distinct craniofacial fe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::87c70b2b4c178399476f4b0cd3e8f07e
https://doi.org/10.1159/000525434
https://doi.org/10.1159/000525434
Publikováno v:
American Journal of Medical Genetics Part A. 188:384-384
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e55db269920bc2a85eb854b3bf02f236
https://doi.org/10.1002/ajmg.a.62498
https://doi.org/10.1002/ajmg.a.62498
Publikováno v:
Phytotherapy research : PTR. 24(9)
In beta-hemoglobinopathies, such as beta-thalassemia (thal) and sickle cell anemia, the primary defects are mutations in the beta-globin gene. However, many aspects of the pathophysiology are mediated by oxidative stress. Fermented papaya preparation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6e7edbd21b297a8845f31bf421b68ea9
https://pubmed.ncbi.nlm.nih.gov/21082979
https://pubmed.ncbi.nlm.nih.gov/21082979