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Journal of Medical Genetics|March 18, 2025
Clinicogenetic characterisation of SLC29A3-related syndromes: a case series, tracing ancestral variants and molecular dynamics simulationSajjad Biglari, Mohammad Shahrooei, Fatemeh Vahidnezhad, et al.Human Mutation|January 10, 2022
Molecular characterization of a large cohort of mucopolysaccharidosis patients: Iran Mucopolysaccharidosis RE-diagnosis study (IMPRESsion)Saeed R Ghaffari, Maryam Rafati, Mahdi Shadnoush, et al.Journal of Inherited Metabolic Disease|February 12, 2019
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow upRuqaiah Altassan, Romain Péanne, Jaak Jaeken, et al.Science (New York, N.Y.)|February 29, 2024
The immunopathological landscape of human pre-TCRα deficiency: From rare to common variantsMarie Materna, Ottavia M Delmonte, Marita Bosticardo, et al.Pageof 6