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Inversion duplication deletions involving the long arm of chromosome 13: phenotypic description of additional three fetuses and genotype-phenotype correlation.
Quelin C, Spaggiari E, Khung-Savatovsky S, Dupont C, Pasquier L, Loeuillet L, Jaillard S, Lucas J, Marcorelles P, Journel H, Pluquailec-Bilavarn K, Bazin A, Verloes A, Delezoide AL, Aboura A, Guimiot F. Quelin C, et al. Among authors: spaggiari e. Am J Med Genet A. 2014 Oct;164A(10):2504-9. doi: 10.1002/ajmg.a.36658. Epub 2014 Jun 26. Am J Med Genet A. 2014. PMID: 24975584
Prenatal phenotype of congenital hyperparathyroidism.
Spaggiari E, Bucau M, Capri Y, Belarbi N, Bekmezian A, Briffa JM, Delezoide AL, Guimiot F. Spaggiari E, et al. Prenat Diagn. 2012 Sep;32(9):906-8. doi: 10.1002/pd.3912. Epub 2012 Jun 5. Prenat Diagn. 2012. PMID: 22674768 No abstract available.
64 results