Showing results (21-30 of 87) with videos related to
Sort By:
Pageof 9
Hemoglobin|May 9, 2007
Genotypic correlation between six common beta-thalassemia mutations and the XmnI polymorphism in the Moroccan populationImane Agouti, Catherine Badens, Ahmed Abouyoub, et al.American Journal of Medical Genetics. Part A|September 7, 2006
ATRX syndrome in a girl with a heterozygous mutation in the ATRX Zn finger domain and a totally skewed X-inactivation patternCatherine Badens, Nathalie Martini, Sébastien Courrier, et al.Human Mutation|March 13, 2018
Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospectsPatrice Bourgeois, Clothilde Esteve, Charlène Chaix, et al.Journal of Human Genetics|September 4, 2007
Oculocutaneous albinism type 2 (OCA2) with homozygous 2.7-kb deletion of the P gene and sickle cell disease in a Cameroonian family. Identification of a common TAG haplotype in the mutated P geneRobert Aquaron, Nadem Soufir, Jean-Louis Bergé-Lefranc, et al.European Journal of Medical Genetics|August 14, 2022
Co-occurrence of oculocutaneous albinism type 2 and mild sickle cell disease explained by HbS/βthal genotype in an individual from the Democratic Republic of CongoRobert Aquaron, Eulalie Lasseaux, Joseph Kelekele, et al.British Journal of Haematology|January 6, 2023
β-Thalassemia in childhood: Current state of health in a high-income countryCaroline Donze, Audrey Benoit, Isabelle Thuret, et al.Journal of Pediatric Gastroenterology and Nutrition|May 12, 2021
Genetic Enteropathies Linked to Epithelial Structural Abnormalities and Enteroendocrine Deficiency: A Systematic ReviewMorgane Caralli, Celine Roman, Marie-Edith Coste, et al.Atherosclerosis|September 10, 2014
Prelamin A accumulation in endothelial cells induces premature senescence and functional impairmentNathalie Bonello-Palot, Stéphanie Simoncini, Stéphane Robert, et al.Archives of Dermatology|January 18, 2012
A novel mutation in the PORCN gene underlying a case of almost unilateral focal dermal hypoplasiaDiane Maalouf, Hala Mégarbané, Eliane Chouery, et al.Journal of Pediatric Gastroenterology and Nutrition|December 28, 2016
IBD-Like Features in Syndromic Diarrhea/Trichohepatoenteric SyndromeVeronica B Busoni, Julie Lemale, Beatrice Dubern, et al.Pageof 9