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Journal of Human Genetics|April 25, 2019
SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancyBjörn Fischer-Zirnsak, Rainer Koenig, Franz Alisch, et al.Journal of Hepatology|May 7, 2016
Severe respiratory complex III defect prevents liver adaptation to prolonged fastingLaura S Kremer, Caroline L'hermitte-Stead, Pierre Lesimple, et al.Annals of Clinical and Translational Neurology|October 1, 2025
The Diverse Neuromuscular Spectrum of VPS13A DiseaseAnne Buchberger, Evamaria Riedel, Marie Hackenberg, et al.Nutrients|May 11, 2024
Impact of Synbiotic Intake on Liver Metabolism in Metabolically Healthy Participants and Its Potential Preventive Effect on Metabolic-Dysfunction-Associated Fatty Liver Disease (MAFLD): A Randomized, Placebo-Controlled, Double-Blinded Clinical TrialAakash Mantri, Anika Köhlmoos, Daniela Stephanie Schelski, et al.Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|August 22, 2018
Clinical presentation and natural history of infantile-onset ascending spastic paralysis from three families with an ALS2 founder variantMayada Helal, Neda Mazaheri, Bita Shalbafan, et al.Clinical Genetics|June 24, 2021
Expanding the phenotypic spectrum of FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome beyond infancyChristina K Rapp, Ine Van Dijck, Lucia Laugwitz, et al.JIMD Reports|April 18, 2014
Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial EncephalocardiomyopathyDaria Diodato, Federica Invernizzi, Eleonora Lamantea, et al.Journal of Neurology|July 20, 2024
Novel variants in CSF1R associated with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP)Anne S Schmitz, Janani Raju, Wolfgang Köhler, et al.Journal of Neurology|December 21, 2017
Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype-phenotype spectrumMartin Krenn, Elisabeth Salzer, Ingrid Simonitsch-Klupp, et al.Frontiers in Cell and Developmental Biology|February 2, 2023
PHIP-associated Chung-Jansen syndrome: Report of 23 new individualsAntje Kampmeier, Elsa Leitão, Ilaria Parenti, et al.Pageof 39