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Annals of Neurology|May 23, 2008
Hereditary optic neuropathies share a common mitochondrial coupling defectArnaud Chevrollier, Virginie Guillet, Dominique Loiseau, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 6, 2018
eKLIPse: a sensitive tool for the detection and quantification of mitochondrial DNA deletions from next-generation sequencing dataDavid Goudenège, Celine Bris, Virginie Hoffmann, et al.Human Molecular Genetics|January 13, 2021
A plasma metabolomic signature of Leber hereditary optic neuropathy showing taurine and nicotinamide deficienciesCinzia Bocca, Victor Le Paih, Juan Manuel Chao de la Barca, et al.Molecular Biology Reports|April 23, 2020
Mutations in aARS genes revealed by targeted next-generation sequencing in patients with mitochondrial diseasesRahma Felhi, Majida Charif, Lamia Sfaihi, et al.European Journal of Human Genetics : EJHG|July 11, 2006
Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelismVirginie Laurier, Corinne Stoetzel, Jean Muller, et al.European Journal of Human Genetics : EJHG|May 28, 2024
Diagnosis of tuberous sclerosis in the prenatal period: a retrospective study of 240 cases and review of the literatureVincent Milon, Marie-Claire Malinge, Maud Blanluet, et al.Journal of Medical Genetics|October 2, 2024
Classification of PTEN germline non-truncating variants: a new approach to interpretationHenri Margot, Natalie Jones, Thibaut Matis, et al.Archives of Dermatology|June 19, 2008
Prospective multicenter study of pegylated liposomal doxorubicin treatment in patients with advanced or refractory mycosis fungoides or Sézary syndromeGaëlle Quereux, Sonia Marques, Jean-Michel Nguyen, et al.Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|October 15, 2019
Follow-Up of Patients With Complete Remission of Locally Advanced Basal Cell Carcinoma After Vismodegib Discontinuation: A Multicenter French Study of 116 PatientsFlorian Herms, Jerome Lambert, Jean-Jacques Grob, et al.Breast Cancer Research : BCR|August 18, 2010
Molecular apocrine differentiation is a common feature of breast cancer in patients with germline PTEN mutationsGuillaume Banneau, Mickaël Guedj, Gaëtan MacGrogan, et al.Pageof 33