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Scientific Reports|February 29, 2024
Cluster analysis and visualisation of electronic health records data to identify undiagnosed patients with rare genetic diseasesDaniel Moynihan, Sean Monaco, Teck Wah Ting, et al.
The Lancet. Global Health|June 14, 2024
Global health for rare diseases through primary careGareth Baynam, Adam L Hartman, Mary Catherine V Letinturier, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 3, 2018
Population genomics in South East Asia captures unexpectedly high carrier frequency for treatable inherited disordersYasmin Bylstra, Jyn Ling Kuan, Weng Khong Lim, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 10, 2018
Correction: Population genomics in South East Asia captures unexpectedly high carrier frequency for treatable inherited disordersYasmin Bylstra, Jyn Ling Kuan, Weng Khong Lim, et al.
Ebiomedicine|April 15, 2016
Incidentalome from Genomic Sequencing: A Barrier to Personalized Medicine?Saumya Shekhar Jamuar, Jyn Ling Kuan, Maggie Brett, et al.
International Journal of Infectious Diseases : IJID : Official Publication of the International Society for Infectious Diseases|June 5, 2020
DISSEMINATED BACILLUS-CALMETTE-GUÉRIN INFECTIONS AND PRIMARY IMMUNODEFICIENCY DISORDERS IN SINGAPORE: A SINGLE CENTER 15-YEAR RETROSPECTIVE REVIEWRina Yue Ling Ong, Su-Wan Bianca Chan, Siu Jun Chew, et al.
Genome Medicine|January 8, 2021
Family history assessment significantly enhances delivery of precision medicine in the genomics eraYasmin Bylstra, Weng Khong Lim, Sylvia Kam, et al.
Matrix Biology : Journal of the International Society for Matrix Biology|April 30, 2026
C-terminally clustered UGDH hypomorphic variants reveal subtle mechanisms of cellular and developmental disruptionHali Harwood, Brenna M Zimmer, Asher R Utz, et al.
Frontiers in Immunology|July 22, 2025
Cardiofaciocutaneous syndrome and immunodeficiency: data from an international multicenter cohortBenedetta Elena Di Majo, Chiara Leoni, Eleonora Cartisano, et al.
American Journal of Human Genetics|January 2, 2018
KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and ArthrogryposisLucie Gueneau, Richard J Fish, Hanan E Shamseldin, et al.
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