Showing results (111-120 of 328) with videos related to
Sort By:
Pageof 33
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 27, 2023
Alpelisib for treatment of patients with PIK3CA-related overgrowth spectrum (PROS)Guillaume Canaud, Juan Carlos Lopez Gutierrez, Alan D Irvine, et al.Journal of Cellular and Molecular Medicine|April 6, 2017
Autophagy controls the pathogenicity of OPA1 mutations in dominant optic atrophyMariame Selma Kane, Jennifer Alban, Valérie Desquiret-Dumas, et al.Frontiers in Psychiatry|April 25, 2022
Neuropsychological Features of Children and Adolescents With Mitochondrial Disorders: A Descriptive Case SeriesElise Riquin, Magalie Barth, Thomas Le Nerzé, et al.The Journal of Investigative Dermatology|August 8, 2002
Homozygosity mapping of a locus for a novel syndromic ichthyosis to chromosome 3q27-q28Lekbir Baala, Smaïl Hadj-Rabia, Dominique Hamel-Teillac, et al.Molecular Neurodegeneration|February 26, 2021
Dominant mutations in MIEF1 affect mitochondrial dynamics and cause a singular late onset optic neuropathyMajida Charif, Yvette C Wong, Soojin Kim, et al.Neuropsychologia|June 10, 2011
The neural substrates of script knowledge deficits as revealed by a PET study in Huntington's diseasePhilippe Allain, Véronique Gaura, Luciano Fasotti, et al.Molecular Vision|March 28, 2009
Acute and late-onset optic atrophy due to a novel OPA1 mutation leading to a mitochondrial coupling defectYannick Nochez, Sophie Arsene, Naig Gueguen, et al.Journal of the American Academy of Dermatology|January 17, 2015
A prospective study of risk for Sturge-Weber syndrome in children with upper facial port-wine stainAnne-Sophie Dutkiewicz, Khaled Ezzedine, Juliette Mazereeuw-Hautier, et al.Medicine|July 19, 2016
Etiologies and prognostic factors of leukocytoclastic vasculitis with skin involvement: A retrospective study in 112 patientsKévin Bouiller, Sylvain Audia, Hervé Devilliers, et al.Hormone Research in Paediatrics|May 27, 2020
Hypopituitarism in Patients with Blepharophimosis and FOXL2 MutationsSarah Castets, Florence Roucher-Boulez, Alexandru Saveanu, et al.Pageof 33