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Archives of Disease in Childhood|October 11, 2013
Syndromic (phenotypic) diarrhoea of infancy/tricho-hepato-enteric syndromeAlexandre Fabre, Anne Breton, Marie-Edith Coste, et al.
International Journal of Neonatal Screening|October 19, 2020
Newborn Screening for Sickle Cell Disease in EuropeYvonne Daniel, Jacques Elion, Bichr Allaf, et al.
American Journal of Human Genetics|September 10, 2013
Mutations in BCAP31 cause a severe X-linked phenotype with deafness, dystonia, and central hypomyelination and disorganize the Golgi apparatusPierre Cacciagli, Julie Sutera-Sardo, Ana Borges-Correia, et al.
Genetics and Molecular Biology|March 7, 2020
Three Mexican Families with β thalassemia intermedia with different molecular basisLourdes Del Carmen Rizo de la Torre, Francisco Javier Perea Díaz, Bertha Ibarra Cortés, et al.
Atherosclerosis|December 27, 2019
High prevalence of mutations in perilipin 1 in patients with precocious acute coronary syndromeNathalie Bonello-Palot, Marc Laine, Thomas Cuisset, et al.
European Journal of Endocrinology|February 24, 2025
Rare ZMPSTE24 variants increase risk of hypertriglyceridemia and metabolic syndromeLauriane Le Collen, Camille Desgrouas, Céline Lukas Croisier, et al.
Human Molecular Genetics|April 22, 2005
Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursorsClaire L Navarro, Juan Cadiñanos, Annachiara De Sandre-Giovannoli, et al.
Blood|July 8, 2015
A mutation in the Gardos channel is associated with hereditary xerocytosisRaphael Rapetti-Mauss, Caroline Lacoste, Véronique Picard, et al.
Science Translational Medicine|November 26, 2025
Base editing of β0-thalassemia mutations as a therapeutic strategy for severe β-hemoglobinopathiesGiulia Hardouin, Pierre Martinucci, Samantha Scaramuzza, et al.
European Journal of Medical Genetics|August 5, 2021
Novel partial loss-of-function variants in the tyrosyl-tRNA synthetase 1 (YARS1) gene involved in multisystem diseaseClothilde Estève, Céline Roman, Cécile DeLeusse, et al.
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