Showing results (21-30 of 43) with videos related to
Sort By:
Pageof 5
Pediatric Cardiology|June 26, 2015
Left Ventricular Non-compaction: Is It Genetic?Teck Wah Ting, Saumya Shekhar Jamuar, Maggie Siewyan Brett, et al.Annals of the Academy of Medicine, Singapore|January 3, 2025
Pharmacogenomics in psychiatry: Practice recommendations from an Asian perspective (2024)Shih Ee Goh, Saumya Shekhar Jamuar, Siew Eng Chua, et al.European Journal of Medical Genetics|June 7, 2024
Addressing diagnostic gaps and priorities of the global rare diseases community: Recommendations from the IRDiRC diagnostics scientific committeeDavid R Adams, Clara D M van Karnebeek, Sergi Beltran Agulló, et al.European Journal of Pediatrics|May 16, 2015
Tricho-hepato-enteric syndrome (THE-S): two cases and review of the literatureJin Ho Chong, Saumya Shekhar Jamuar, Christina Ong, et al.American Journal of Medical Genetics. Part A|July 14, 2020
Heterozygous missense variant in EIF6 gene: A novel form of Shwachman-Diamond syndrome?Ai Ling Koh, Carine Bonnard, Jiin Ying Lim, et al.European Journal of Medical Genetics|April 16, 2019
Further delineation of CDC45-related Meier-Gorlin syndrome with craniosynostosis and review of literatureChun Yi Ting, Neha Singh Bhatia, Jiin Ying Lim, et al.JAMA Network Open|October 25, 2023
Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic TestingElaine Chen, Flavia M Facio, Kerry W Aradhya, et al.Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus|November 6, 2023
A novel intronic variant in ROBO3 associated with horizontal gaze palsy with progressive scoliosis: case report and literature reviewBryan Sim, Janice Wan Zhen Ng, Donald Yuhui Sim, et al.Archives of Disease in Childhood|September 26, 2020
Genetic landscape of congenital disorders in patients from Southeast Asia: results from sequencing using a gene panel for Mendelian phenotypesHeming Wei, Angeline Lai, Ee Shien Tan, et al.Clinical Dysmorphology|August 14, 2024
Dilated aorta in CNOT3 -related neurodevelopmental disorder: 'expanding' the phenotypeSandra Hui Min Lau, Lim Jiin Ying, Chew Yin Jasmine Goh, et al.Pageof 5