Showing results (51-60 of 62) with videos related to

Sort By:
Pageof 7
Nature Genetics|April 30, 2014
RAF1 mutations in childhood-onset dilated cardiomyopathyPerundurai S Dhandapany, Md Abdur Razzaque, Uthiralingam Muthusami, et al.
Neurology|July 1, 2018
Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegenerationValentina Muto, Elisabetta Flex, Zachary Kupchinsky, et al.
Human Molecular Genetics|August 26, 2022
Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypesElisabetta Flex, Shahad Albadri, Francesca Clementina Radio, 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|May 28, 2019
Activating Mutations of RRAS2 Are a Rare Cause of Noonan SyndromeYline Capri, Elisabetta Flex, Oliver H F Krumbach, et al.
Breast (Edinburgh, Scotland)|November 11, 2025
Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancerNiccolò Di Giosaffatte, Paola Daniele, Francesco Petrizzelli, et al.
American Journal of Medical Genetics. Part A|November 16, 2023
The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacyElizabeth I Pierpont, Anton M Bennett, Lisa Schoyer, et al.
Human Molecular Genetics|April 8, 2014
Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesisElisabetta Flex, Mamta Jaiswal, Francesca Pantaleoni, et al.
American Journal of Human Genetics|July 30, 2020
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical SpectrumMarialetizia Motta, Luca Pannone, Francesca Pantaleoni, et al.
Pageof 7