Showing results (51-60 of 113) with videos related to

Sort By:
Pageof 12
American Journal of Human Genetics|November 20, 2020
A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl-/H+-Exchanger, Causes Early-Onset NeurodegenerationMaya M Polovitskaya, Carlo Barbini, Diego Martinelli, et al.
Clinical Epigenetics|January 9, 2020
Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signatureAndrea Ciolfi, Erfan Aref-Eshghi, Simone Pizzi, et al.
Orphanet Journal of Rare Diseases|May 13, 2017
Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutationsAlessia Nasca, Teresa Rizza, Mara Doimo, et al.
Clinical Epigenetics|January 4, 2024
Malignant peripheral nerve sheath tumor (MPNST) and MPNST-like entities are defined by a specific DNA methylation profile in pediatric and juvenile populationSara Patrizi, Evelina Miele, Lorenza Falcone, et al.
Brain Communications|December 9, 2022
Adult-onset KMT2B-related dystoniaEdoardo Monfrini, Andrea Ciolfi, Francesco Cavallieri, et al.
European Journal of Human Genetics : EJHG|March 26, 2024
DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicismMarcello Niceta, Andrea Ciolfi, Marco Ferilli, et al.
Biomedicines|January 25, 2025
MicroRNAs Expression Profile in MN1-Altered AstroblastomaFrancesca Gianno, Evelina Miele, Claudia Sabato, et al.
Cell Death & Disease|March 1, 2019
Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseasesLudovica Grassi, Romina Alfonsi, Federica Francescangeli, et al.
Brain : a Journal of Neurology|May 8, 2021
Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafnessAntonella Sferra, Paola Fortugno, Marialetizia Motta, et al.
European Journal of Human Genetics : EJHG|July 19, 2020
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian populationElisa Benetti, Rossella Tita, Ottavia Spiga, et al.
Pageof 12