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American Journal of Medical Genetics. Part A|July 21, 2004
Subtelomeric deletions of chromosome 9q: a novel microdeletion syndromeDouglas R Stewart, Alina Huang, Francesca Faravelli, et al.Biomed Research International|September 15, 2022
Inflammasome Genetic Variants Are Associated with Protection to Clinical Severity of COVID-19 among Patients from Rio de Janeiro, BrazilNathalia Beatriz Ramos de Sá, Milena Neira-Goulart, Marcelo Ribeiro-Alves, et al.American Journal of Medical Genetics. Part A|April 23, 2015
The third international meeting on genetic disorders in the RAS/MAPK pathway: towards a therapeutic approachBruce Korf, Reza Ahmadian, Judith Allanson, et al.American Journal of Human Genetics|December 18, 2018
GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott SyndromeAmy J LaCroix, Deborah Stabley, Rebecca Sahraoui, et al.Cell Reports. Medicine|November 9, 2020
Pharmacological Inhibition of Acid Sphingomyelinase Prevents Uptake of SARS-CoV-2 by Epithelial CellsAlexander Carpinteiro, Michael J Edwards, Markus Hoffmann, et al.AIDS (London, England)|August 31, 2023
Immunogenicity and reactogenicity of yellow fever vaccine in people with HIVEdwiges Motta, Luiz Antonio B Camacho, Marcelo Cunha, et al.Journal of Inherited Metabolic Disease|June 27, 2020
Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literatureDevon L Johnstone, Thi Tuyet Mai Nguyen, Jessica Zambonin, et al.Cell Reports|June 9, 2021
Nucleocytoplasmic transport of the RNA-binding protein CELF2 regulates neural stem cell fatesMelissa J MacPherson, Sarah L Erickson, Drayden Kopp, et al.Cells|June 11, 2026
Functional Profile of γδ T Cells in Severe and Moderate COVID-19: A Brazilian Cross-Sectional StudyAndressa da Silva Cazote, Glenda Domingos Mascarenhas, Hugo Perazzo, et al.American Journal of Human Genetics|April 14, 2015
Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like FaciesMarcello Niceta, Emilia Stellacci, Karen W Gripp, et al.Pageof 42