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2020 | 2 |
2023 | 1 |
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HELIOS-expressing human CD8 T cells exhibit limited effector functions.
Front Immunol. 2023 Dec 22;14:1308539. doi: 10.3389/fimmu.2023.1308539. eCollection 2023.
Front Immunol. 2023.
PMID: 38187391
Free PMC article.
TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A.
Boussion S, Escande F, Jourdain AS, Smol T, Brunelle P, Duhamel C, Alembik Y, Attié-Bitach T, Baujat G, Bazin A, Bonnière M, Carassou P, Carles D, Devisme L, Goizet C, Goldenberg A, Grotto S, Guichet A, Jouk PS, Loeuillet L, Mechler C, Michot C, Pelluard F, Putoux A, Whalen S, Ghoumid J, Manouvrier-Hanu S, Petit F.
Boussion S, et al. Among authors: duhamel c.
Hum Mutat. 2020 Jul;41(7):1220-1225. doi: 10.1002/humu.24021. Epub 2020 Apr 6.
Hum Mutat. 2020.
PMID: 32227665
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Mandibular-pelvic-patellar syndrome is a novel PITX1-related disorder due to alteration of PITX1 transactivation ability.
Morel G, Duhamel C, Boussion S, Frénois F, Lesca G, Chatron N, Labalme A, Sanlaville D, Edery P, Thevenon J, Faivre L, Fassier A, Prodhomme O, Escande F, Manouvrier S, Petit F, Geneviève D, Rossi M.
Morel G, et al. Among authors: duhamel c.
Hum Mutat. 2020 Sep;41(9):1499-1506. doi: 10.1002/humu.24070. Epub 2020 Jul 15.
Hum Mutat. 2020.
PMID: 32598510
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