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Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.
Eur J Hum Genet. 2024 Apr 3. doi: 10.1038/s41431-024-01606-x. Online ahead of print.
Eur J Hum Genet. 2024.
PMID: 38565641
No abstract available.
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.
Paulet A, Bennett-Ness C, Ageorges F, Trost D, Green A, Goudie D, Jewell R, Kraatari-Tiri M, Piard J, Coubes C, Lam W, Lynch SA, Groeschel S, Ramond F, Fluss J, Fagerberg C, Brasch Andersen C, Varvagiannis K, Kleefstra T, Gérard B, Fradin M, Vitobello A, Tenconi R, Denommé-Pichon AS, Vincent-Devulder A, Haack T, Marsh JA, Laulund LW, Grimmel M, Riess A, de Boer E, Padilla-Lopez S, Bakhtiari S, Ostendorf A, Zweier C, Smol T, Willems M, Faivre L, Scala M, Striano P, Bagnasco I, Koboldt D, Iascone M, Suerink M, Kruer MC, Levy J, Verloes A, Abbott CM, Ruaud L.
Paulet A, et al. Among authors: ageorges f.
Eur J Hum Genet. 2024 Feb 15. doi: 10.1038/s41431-024-01560-8. Online ahead of print.
Eur J Hum Genet. 2024.
PMID: 38355961
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Expanding the phenotype of GTF2E2-associated trichothiodystrophy.
Sperelakis-Beedham B, Ruaud L, Vial Y, Rachid M, Ageorges F, Goujon L, Verloes A, Tabet AC, Bourrat E, Lévy J.
Sperelakis-Beedham B, et al. Among authors: ageorges f.
J Eur Acad Dermatol Venereol. 2024 Mar;38(3):e222-e226. doi: 10.1111/jdv.19545. Epub 2023 Oct 16.
J Eur Acad Dermatol Venereol. 2024.
PMID: 37793898
No abstract available.
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Biallelic THOC6 pathogenic variants: Prenatal phenotype and review of the literature.
Ruaud L, Roux N, Boutaud L, Bessières B, Ageorges F, Achaiaa A, Bole C, Nitschke P, Masson C, Vekemans M, Verloes A, Attie-Bitach T.
Ruaud L, et al. Among authors: ageorges f.
Birth Defects Res. 2022 Jun;114(10):499-504. doi: 10.1002/bdr2.2011. Epub 2022 Apr 15.
Birth Defects Res. 2022.
PMID: 35426486
Review.
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Smith-Magenis syndrome: Clinical and behavioral characteristics in a large retrospective cohort.
Rive Le Gouard N, Jacquinet A, Ruaud L, Deleersnyder H, Ageorges F, Gallard J, Lacombe D, Odent S, Mikaty M, Manouvrier-Hanu S, Ghoumid J, Geneviève D, Lehman N, Philip N, Edery P, Héron D, Rastel C, Chancenotte S, Thauvin-Robinet C, Faivre L, Perrin L, Verloes A.
Rive Le Gouard N, et al. Among authors: ageorges f.
Clin Genet. 2021 Apr;99(4):519-528. doi: 10.1111/cge.13906. Epub 2021 Jan 5.
Clin Genet. 2021.
PMID: 33368193
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