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carolina janet
(126 results)?
Clinical heterogeneity of NADSYN1-associated VCRL syndrome.
Clin Genet. 2023 Jul;104(1):114-120. doi: 10.1111/cge.14328. Epub 2023 Mar 23.
Clin Genet. 2023.
PMID: 36951206
A second individual with rhizomelic spondyloepimetaphyseal dysplasia and homozygous variant in GNPNAT1.
Sabbagh Q, Alkar F, Patte K, Prodhomme O, Janel C, Touraine R, Jeandel C, Geneviève D.
Sabbagh Q, et al. Among authors: janel c.
Eur J Med Genet. 2022 Jun;65(6):104495. doi: 10.1016/j.ejmg.2022.104495. Epub 2022 Apr 12.
Eur J Med Genet. 2022.
PMID: 35427807
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Relevance of Extending FGFR3 Gene Analysis in Osteochondrodysplasia to Non-Coding Sequences: A Case Report.
Ouedraogo ZG, Janel C, Janin A, Millat G, Langlais S, Pontier B, Biard M, Lepage M, Francannet C, Laffargue F, Creveaux I.
Ouedraogo ZG, et al. Among authors: janel c.
Genes (Basel). 2024 Feb 10;15(2):225. doi: 10.3390/genes15020225.
Genes (Basel). 2024.
PMID: 38397214
Free PMC article.
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Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non-homologous Robertsonian translocation. Should we still perform prenatal diagnosis?
Moradkhani K, Cuisset L, Boisseau P, Pichon O, Lebrun M, Hamdi-Rozé H, Maurin ML, Gruchy N, Manca-Pellissier MC, Malzac P, Bilan F, Audrezet MP, Saugier-Veber P, Fauret-Amsellem AL, Missirian C, Kuentz P, Egea G, Guichet A, Creveaux I, Janel C, Harzallah I, Touraine R, Goumy C, Joyé N, Puechberty J, Haquet E, Chantot-Bastaraud S, Schmitt S, Gosset P, Duban-Bedu B, Delobel B, Vago P, Vialard F, Gomes DM, Siffroi JP, Bonnefont JP, Dupont JM, Jonveaux P, Doco-Fenzy M, Sanlaville D, Le Caignec C.
Moradkhani K, et al. Among authors: janel c.
Prenat Diagn. 2019 Oct;39(11):986-992. doi: 10.1002/pd.5518. Epub 2019 Aug 19.
Prenat Diagn. 2019.
PMID: 31273809
Free article.
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