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Nature Communications|May 19, 2025
Wnt/β-catenin activation by mutually exclusive FBXW11 and CTNNB1 hotspot mutations drives salivary basal cell adenomaKim Wong, Justin A Bishop, Ilan Weinreb, et al.
Neurology|July 1, 2018
Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegenerationValentina Muto, Elisabetta Flex, Zachary Kupchinsky, et al.
Frontiers in Immunology|August 15, 2022
Radiosensitivity in patients affected by ARPC1B deficiency: a new disease trait?Maria Chiriaco, Giorgiana Madalina Ursu, Donato Amodio, et al.
American Journal of Human Genetics|September 27, 2016
Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset EncephalopathyElisabetta Flex, Marcello Niceta, Serena Cecchetti, et al.
HGG Advances|August 30, 2024
Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome functionGiovanna Carpentieri, Serena Cecchetti, Gianfranco Bocchinfuso, et al.
American Journal of Human Genetics|November 4, 2017
Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures"Chae Syng Lee, He Fu, Nissan Baratang, et al.
American Journal of Human Genetics|October 9, 2021
SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotypeMarialetizia Motta, Giulia Fasano, Sina Gredy, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 29, 2026
Loss of function of retinol dehydrogenase 11 causes a recessive syndrome characterized by myopathy, retinal dystrophy, juvenile cataracts, and microcephalyFrancesca Clementina Radio, Giorgio Tasca, Sandra Coppens, et al.
European Journal of Human Genetics : EJHG|June 1, 2024
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosisMaria Lisa Dentici, Marcello Niceta, Francesca Romana Lepri, et al.
American Journal of Human Genetics|August 13, 2019
De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit AnomaliesRichard J Holt, Rodrigo M Young, Berta Crespo, et al.
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