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Integrated genome and transcriptome analyses solves about one third of the patients with rare developmental disorders and negative first-line molecular investigations

Archive ouverte | Vitobello, A. | CCSD

International audience

Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability

Archive ouverte | Callier, P. | CCSD

International audience. The association of marfanoid habitus (MH) and intellectual disability (ID) has been reported in the literature, with overlapping presentations and genetic heterogeneity. A hundred patients (7...

Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations

Archive ouverte | Lefebvre, M. | CCSD

International audience. PURPOSE: Molecular diagnosis based on singleton exome sequencing (sES) is particularly challenging in fetuses with multiple congenital abnormalities (MCA). Indeed, some studies reveal a diagn...

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