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Prenatal and neonatal phenotype of Larsen of La Réunion Island syndrome (B4GALT7-linkeropathy).
Alessandri JL, Celse T, Spodenkiewicz M, Calaya A, Dumont C, Jacquemont ML, Bertaut-Nativel B, Boumahni B, Rémy M, Ferroul F, Guilly S, Huby T, Irabé M, Laurens T, Munier P, Morel G, Payet F, Randrianaivo H, Doray B, Dospeux J. Alessandri JL, et al. Among authors: doray b. Eur J Med Genet. 2024 May 3;69:104940. doi: 10.1016/j.ejmg.2024.104940. Online ahead of print. Eur J Med Genet. 2024. PMID: 38705458 Free article.
GABAergic interneurons contribute to the fatal seizure phenotype of CLN2 disease mice.
Takahashi K, Rensing NR, Eultgen EM, Wang SH, Nelvagal HR, Le SQ, Roberts MS, Doray B, Han EB, Dickson PI, Wong M, Sands MS, Cooper JD. Takahashi K, et al. Among authors: doray b. bioRxiv [Preprint]. 2024 Mar 30:2024.03.29.587276. doi: 10.1101/2024.03.29.587276. bioRxiv. 2024. PMID: 38585903 Free PMC article. Preprint.
Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases.
Racine C, Denommé-Pichon AS, Engel C, Tran Mau-Them F, Bruel AL, Vitobello A, Safraou H, Sorlin A, Nambot S, Delanne J, Garde A, Colin E, Moutton S, Thevenon J, Jean-Marçais N, Willems M, Geneviève D, Pinson L, Perrin L, Laffargue F, Lespinasse J, Lacaze E, Molin A, Gerard M, Lambert L, Benigni C, Patat O; Orphanomix Physician's Group; Bourgeois V, Poe C, Chevarin M, Couturier V, Garret P, Philippe C, Duffourd Y, Faivre L, Thauvin-Robinet C. Racine C, et al. J Med Genet. 2023 Dec 21;61(1):36-46. doi: 10.1136/jmg-2023-109170. J Med Genet. 2023. PMID: 37586840
162 results