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Page 1
Growth charts in Kabuki syndrome 1.
Ruault V, Corsini C, Duflos C, Akouete S, Georgescu V, Abaji M, Alembick Y, Alix E, Amiel J, Amouroux C, Barat-Houari M, Baumann C, Bonnard A, Boursier G, Boute O, Burglen L, Busa T, Cordier MP, Cormier-Daire V, Delrue MA, Doray B, Faivre L, Fradin M, Gilbert-Dussardier B, Giuliano F, Goldenberg A, Gorokhova S, Héron D, Isidor B, Jacquemont ML, Jacquette A, Jeandel C, Lacombe D, Le Merrer M, Sang KHLQ, Lyonnet S, Manouvrier S, Michot C, Moncla A, Moutton S, Odent S, Pelet A, Philip N, Pinson L, Reversat J, Roume J, Sanchez E, Sanlaville D, Sarda P, Schaefer E, Till M, Touitou I, Toutain A, Willems M, Gatinois V, Geneviève D. Ruault V, et al. Among authors: amouroux c. Am J Med Genet A. 2020 Mar;182(3):446-453. doi: 10.1002/ajmg.a.61462. Epub 2019 Dec 26. Am J Med Genet A. 2020. PMID: 31876365 Free article.
Association of Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II clinical features in an individual with CDK5RAP2 primary microcephaly.
Sabbagh Q, Tharreau M, Cenni C, Sanchez E, Ruiz-Pallares N, Alkar F, Amouroux C, David S, Prodhomme O, Leboucq N, Meunier I, Bessis D, Theron A, Barat-Houari M, Willems M. Sabbagh Q, et al. Among authors: amouroux c. Eur J Med Genet. 2023 May;66(5):104733. doi: 10.1016/j.ejmg.2023.104733. Epub 2023 Feb 25. Eur J Med Genet. 2023. PMID: 36842471
Diazoxide Causality Assessment of a Pericardial Effusion in a Child with Kabuki Syndrome.
Maffre I, Vincenti M, Dalla Vale F, Amouroux C, Werner O, Meilhac A, de Barry G, Amedro P. Maffre I, et al. Among authors: amouroux c. J Clin Res Pediatr Endocrinol. 2019 May 28;11(2):218-219. doi: 10.4274/jcrpe.galenos.2018.2018.0193. Epub 2018 Oct 23. J Clin Res Pediatr Endocrinol. 2019. PMID: 30362323 Free PMC article. No abstract available.
[Pseudohypoaldosteronism type I].
Fila M, Amouroux C, Morin D. Fila M, et al. Among authors: amouroux c. Arch Pediatr. 2015 May;22(5 Suppl 1):43-5. doi: 10.1016/S0929-693X(15)30023-3. Arch Pediatr. 2015. PMID: 26112514 French. No abstract available.
39 results