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European Journal of Endocrinology|April 30, 2026
Divergent Roles of Skeletal Muscle 11β-HSD1 in Age-Related and Chronic Kidney Disease-Associated SarcopeniaMichael S Sagmeister, Ana Crastin, Bradley Welsh, et al.
Molecular Genetics and Metabolism|November 27, 2007
Females with Fabry disease frequently have major organ involvement: lessons from the Fabry RegistryWilliam R Wilcox, João Paulo Oliveira, Robert J Hopkin, et al.
Molecular Genetics and Metabolism|April 17, 2019
Low-dose agalsidase beta treatment in male pediatric patients with Fabry disease: A 5-year randomized controlled trialUma Ramaswami, Daniel G Bichet, Lorne A Clarke, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 18, 2024
Expanding the phenotype of neurofibromatosis type 1 microdeletion syndromeJenny P Garzon, Andrea Patete, Lindsey Aschbacher-Smith, et al.
American Journal of Medical Genetics. Part A|February 6, 2019
Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutationsKatheryn Grand, Christina Gonzalez-Gandolfi, Amanda M Ackermann, et al.
Annals of Neurology|May 31, 2017
The genetic landscape of familial congenital hydrocephalusRanad Shaheen, Mohammed Adeeb Sebai, Nisha Patel, et al.
European Journal of Human Genetics : EJHG|July 19, 2025
A new multisystem ERCC1-hepatorenal syndrome: insights from a clinical cohort, molecular pathogenesis, and management guidelinesSusan M White, Annelotte P Wondergem, Isa Breet, et al.
American Journal of Human Genetics|May 31, 2016
A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones SyndromeStephen R F Twigg, Robert B Hufnagel, Kerry A Miller, et al.
Brain : a Journal of Neurology|June 30, 2022
Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disordersNataliya Di Donato, Renzo Guerrini, Charles J Billington, et al.
American Journal of Human Genetics|October 5, 2019
De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital DefectsAndrea Accogli, Sara Calabretta, Judith St-Onge, et al.
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