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Clinical and molecular heterogeneity of VPS13D-related neurodevelopmental and movement disorders.
Gene. 2024 Mar 20;899:148119. doi: 10.1016/j.gene.2023.148119. Epub 2023 Dec 29.
Gene. 2024.
PMID: 38160741
Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome.
De Nittis P, Efthymiou S, Sarre A, Guex N, Chrast J, Putoux A, Sultan T, Raza Alvi J, Ur Rahman Z, Zafar F, Rana N, Rahman F, Anwar N, Maqbool S, Zaki MS, Gleeson JG, Murphy D, Galehdari H, Shariati G, Mazaheri N, Sedaghat A; SYNAPS Study Group; Lesca G, Chatron N, Salpietro V, Christoforou M, Houlden H, Simonds WF, Pedrazzini T, Maroofian R, Reymond A.
De Nittis P, et al. Among authors: raza alvi j.
J Med Genet. 2021 Dec;58(12):815-831. doi: 10.1136/jmedgenet-2020-107015. Epub 2020 Nov 10.
J Med Genet. 2021.
PMID: 33172956
Free PMC article.
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