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American Journal of Medical Genetics. Part A|September 9, 2022
Epileptic encephalopathy as a new feature of the sudden infant death with dysgenesis of the testes syndrome caused by TSPYL1 variantsBenoit Mazel, Delphine Mallet, Florence Roucher-Boulez, et al.European Journal of Endocrinology|May 1, 2016
NNT mutations: a cause of primary adrenal insufficiency, oxidative stress and extra-adrenal defectsFlorence Roucher-Boulez, Delphine Mallet-Motak, Dinane Samara-Boustani, et al.Annales D'Endocrinologie|October 10, 2025
Rare causes of pediatric primary adrenal insufficiency: Data from a large nationwide Tunisian cohortRania Khalfallah, Fakhri Kallabi, Delphine Mallet, et al.Journal of Medical Genetics|November 5, 2011
Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex developmentSabina Benko, Christopher T Gordon, Delphine Mallet, et al.The Journal of Clinical Endocrinology and Metabolism|August 19, 2025
A recurrent splice variant sheds light on 11beta-hydroxylase deficiency in a unique large cohortClément Janot, Delphine Mallet, Alexandre Janin, et al.Endocrine Connections|January 6, 2023
Changes in the clinical management of 5α-reductase type 2 and 17β-hydroxysteroid dehydrogenase type 3 deficiencies in FranceEstelle Bonnet, Mathias Winter, Delphine Mallet, et al.Annales D'Endocrinologie|May 8, 2026
Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditionsLaurence Faivre, Camille Level, Régis Coutant, et al.Annales D'Endocrinologie|March 21, 2026
Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditionsLaurence Faivre, Camille Level, Régis Coutant, et al.Pageof 4