Showing results (81-90 of 112) with videos related to

Sort By:
Pageof 12
European Journal of Heart Failure|November 16, 2012
A novel genetic variant in the transcription factor Islet-1 exerts gain of function on myocyte enhancer factor 2C promoter activityFelix W Friedrich, Gilles Dilanian, Patricia Khattar, et al.
Blood|November 22, 2014
Red cells from ferrochelatase-deficient erythropoietic protoporphyria patients are resistant to growth of malarial parasitesClare M Smith, Ante Jerkovic, Hervé Puy, et al.
Proceedings of the National Academy of Sciences of the United States of America|September 7, 2017
Mutation in human CLPX elevates levels of δ-aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyriaYvette Y Yien, Sarah Ducamp, Lisa N van der Vorm, et al.
Human Genetics|January 26, 2020
A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosisPauline Arnaud, Caroline Racine, Nadine Hanna, et al.
American Journal of Human Genetics|April 1, 2014
Antisense oligonucleotide-based therapy in human erythropoietic protoporphyriaVincent Oustric, Hana Manceau, Sarah Ducamp, et al.
European Journal of Human Genetics : EJHG|August 9, 2018
Association of modifiers and other genetic factors explain Marfan syndrome clinical variabilityMelodie Aubart, Steven Gazal, Pauline Arnaud, et al.
Liver International : Official Journal of the International Association for the Study of the Liver|October 30, 2021
Efficacy and safety of givosiran for acute hepatic porphyria: 24-month interim analysis of the randomized phase 3 ENVISION studyPaolo Ventura, Herbert L Bonkovsky, Laurent Gouya, et al.
Blood|February 1, 2019
Regulation of globin-heme balance in Diamond-Blackfan anemia by HSP70/GATA1Sarah Rio, Marc Gastou, Narjesse Karboul, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 12, 2019
Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD)Pauline Arnaud, Nadine Hanna, Louise Benarroch, et al.
Clinical Genetics|June 28, 2019
FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype-phenotype correlationsFlavie Ader, Pascal De Groote, Patricia Réant, et al.
Pageof 12