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Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome.
Sanlaville D, Genevieve D, Bernardin C, Amiel J, Baumann C, de Blois MC, Cormier-Daire V, Gerard B, Gerard M, Le Merrer M, Parent P, Prieur F, Prieur M, Raoul O, Toutain A, Verloes A, Viot G, Romana S, Munnich A, Lyonnet S, Vekemans M, Turleau C. Sanlaville D, et al. Among authors: bernardin c. Eur J Hum Genet. 2005 May;13(5):690-3. doi: 10.1038/sj.ejhg.5201383. Eur J Hum Genet. 2005. PMID: 15770228 Review.
Pure proximal deletion of chromosome 21 and kyphosis.
Keren B, Bernardin C, Toutain A, Heron D, Fouquet B, Laudier B, Telvi L, Romana SP, Vekemans M, Sanlaville D. Keren B, et al. Among authors: bernardin c. Eur J Med Genet. 2007 Nov-Dec;50(6):469-74. doi: 10.1016/j.ejmg.2007.08.001. Epub 2007 Aug 15. Eur J Med Genet. 2007. PMID: 17890169
[Spectral karyotyping (SKY) principle, avantages and limitations].
Belaud-Rotureau MA, Elghezal H, Bernardin C, Sanlaville D, Radford-Weiss I, Raoul O, Vekemans M, Romana SP. Belaud-Rotureau MA, et al. Among authors: bernardin c. Ann Biol Clin (Paris). 2003 Mar-Apr;61(2):139-46. Ann Biol Clin (Paris). 2003. PMID: 12702468 Free article. Review. French.
The network structure of the Special Interests Survey.
Brown CE, Beauchamp MT, Nowell KP, Bernardin CJ, Kanne SM. Brown CE, et al. Among authors: bernardin cj. Autism Res. 2023 Feb;16(2):379-393. doi: 10.1002/aur.2862. Epub 2022 Dec 14. Autism Res. 2023. PMID: 36515154
13 results