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Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: report of 13 new families.
Petit F, Jourdain AS, Andrieux J, Baujat G, Baumann C, Beneteau C, David A, Faivre L, Gaillard D, Gilbert-Dussardier B, Jouk PS, Le Caignec C, Loget P, Pasquier L, Porchet N, Holder-Espinasse M, Manouvrier-Hanu S, Escande F. Petit F, et al. Among authors: david a. Clin Genet. 2014 May;85(5):464-9. doi: 10.1111/cge.12219. Epub 2013 Jul 15. Clin Genet. 2014. PMID: 23790188
Prenatal diagnosis of Larsen syndrome caused by a mutation in the filamin B gene.
Winer N, Kyndt F, Paumier A, David A, Isidor B, Quentin M, Jouitteau B, Sanyas P, Philippe HJ, Hernandez A, Krakow D, Le Caignec C. Winer N, et al. Among authors: david a. Prenat Diagn. 2009 Feb;29(2):172-4. doi: 10.1002/pd.2164. Prenat Diagn. 2009. PMID: 19085972 Free PMC article. No abstract available.
Prenatal diagnosis of tetraploidy.
Sagot P, Nomballais MF, David A, Yvinec M, Beaujard MP, Barrière P, Boog G. Sagot P, et al. Among authors: david a. Fetal Diagn Ther. 1993 May-Jun;8(3):182-6. doi: 10.1159/000263822. Fetal Diagn Ther. 1993. PMID: 8240691
3,461 results