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PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.
Sci Transl Med. 2023 May 31;15(698):eabo3189. doi: 10.1126/scitranslmed.abo3189. Epub 2023 May 31.
Sci Transl Med. 2023.
PMID: 37256937
Free PMC article.
Neuropsychological study in 19 French patients with White-Sutton syndrome and POGZ mutations.
Garde A, Cornaton J, Sorlin A, Moutton S, Nicolas C, Juif C, Geneviève D, Perrin L, Khau-Van-Kien P, Smol T, Vincent-Delorme C, Isidor B, Cogné B, Afenjar A, Keren B, Coubes C, Prieur F, Toutain A, Trousselet Y, Bourgouin S, Gonin-Olympiade C, Giraudat K, Piton A, Gérard B, Odent S, Tessier F, Lemasson L, Heide S, Gelineau AC, Sarret C, Miret A, Schaefer E, Piard J, Mathevet R, Boucon M, Bruel AL, Mau-Them FT, Chevarin M, Vitobello A, Philippe C, Thauvin-Robinet C, Faivre L.
Garde A, et al. Among authors: gelineau ac.
Clin Genet. 2021 Mar;99(3):407-417. doi: 10.1111/cge.13894. Epub 2020 Dec 15.
Clin Genet. 2021.
PMID: 33277917
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[Knowledge, attitudes and practise of the general practitioners with the epileptic patients: qualitative research with 11 semi-structured interviews].
Gélineau AC, Grimaud J, de Toffol B.
Gélineau AC, et al.
Rev Neurol (Paris). 2008 Feb;164(2):156-61. doi: 10.1016/j.neurol.2007.10.005. Epub 2008 Feb 20.
Rev Neurol (Paris). 2008.
PMID: 18358874
French.
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