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European Journal of Human Genetics : EJHG|June 17, 2020
AAV-mediated FOXG1 gene editing in human Rett primary cellsSusanna Croci, Miriam Lucia Carriero, Katia Capitani, et al.
Brain : a Journal of Neurology|July 14, 2020
SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defectAlisdair McNeill, Emanuela Iovino, Luke Mansard, et al.
Brain : a Journal of Neurology|October 28, 2025
Muscle transcriptomics of alpha-sarcoglycanopathy highlights inflammatory pathways driving diseaseAdriana Amaro, Francesco Reggiani, Chiara Panicucci, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|March 8, 2024
FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language developmentBenoit Mazel, Julian Delanne, Aurore Garde, et al.
Frontiers in Oncology|September 6, 2021
Corrigendum: Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility GenesGabriella Doddato, Floriana Valentino, Annarita Giliberti, et al.
Human Molecular Genetics|April 11, 2022
The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorderScott Barish, Mumine Senturk, Kelly Schoch, et al.
Frontiers in Oncology|May 24, 2021
Exome sequencing in BRCA1-2 candidate familias: the contribution of other cancer susceptibility genesGabriella Doddato, Floriana Valentino, Annarita Giliberti, et al.
Neurology|March 20, 2025
Natural History of Patients With Mitochondrial ATPase Deficiency Due to Pathogenic Variants of MT-ATP6 and MT-ATP8Sara Carli, Anna Levarlet, Daria Diodato, et al.
International Journal of Molecular Sciences|December 11, 2022
A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation SequencingGemma Marinella, Guja Astrea, Bianca Buchignani, et al.
Clinical Genetics|December 28, 2020
IQSEC2 disorder: A new disease entity or a Rett spectrum continuum?Diego Lopergolo, Flavia Privitera, Giuseppe Castello, et al.
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