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Medrxiv : the Preprint Server for Health Sciences|July 9, 2025
Pathway-Specific Polygenic Risk Scores for Blood Pressure Traits in a West African CohortGregory Bormes, Vanessa Robbin, Tinashe Chikwore, et al.
Frontiers in Cardiovascular Medicine|March 30, 2026
Pathway-specific polygenic risk scores for blood pressure traits in a West African cohortGregory Bormes, Vanessa Robbin, Tinashe Chikowore, et al.
Epilepsy Research|July 12, 2019
Somatic mutation: The hidden genetics of brain malformations and focal epilepsiesZimeng Ye, Lara McQuillan, Annapurna Poduri, et al.
Molecular Genetics and Metabolism|April 12, 2011
Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosisNeil A Hanchard, Oleg A Shchelochkov, Angshumoy Roy, et al.
Biorxiv : the Preprint Server for Biology|February 8, 2024
Patient derived model of UBA5-associated encephalopathy identifies defects in neurodevelopment and highlights potential therapiesHelen Chen, Yong-Dong Wang, Aidan W Blan, et al.
British Journal of Haematology|January 6, 2009
Ethnic differences in F cell levels in Jamaica: a potential tool for identifying new genetic loci controlling fetal haemoglobinLisa E Creary, Colin A McKenzie, Stephan Menzel, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|July 28, 2018
First case of genetically confirmed CLN3 disease in Chinese with cDNA sequencing revealing pathogenicity of a novel splice site variantNike Kwai Cheung Lau, Chor Kwan Ching, Hencher Han Chih Lee, et al.
Medrxiv : the Preprint Server for Health Sciences|October 4, 2023
Genetic Variants in Carbohydrate Digestive Enzyme and Transport Genes Associated with Risk of Irritable Bowel SyndromeHyejeong Hong, Katharina V Schulze, Ian E Copeland, et al.
American Journal of Medical Genetics. Part A|July 11, 2019
Biallelic variants in COX4I1 associated with a novel phenotype resembling Leigh syndrome with developmental regression, intellectual disability, and seizuresNishitha R Pillai, Noura S AlDhaheri, Rajarshi Ghosh, et al.
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