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Elisabeth Flori | Researchclopedia

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Elisabeth Flori

Hôpital d'Hautepierre

77

Works

4,495

Citations

31

h-index

52

i10-index

Research Topics

Prenatal Screening and Diagnostics Genomic variations and chromosomal abnormalities Genetic Syndromes and Imprinting

Affiliations

Université Claude Bernard Lyon 12017–2017

Centre National de la Recherche Scientifique2017–2017

Inserm2017–2017

Centre de Recherche en Neurosciences de Lyon2017–2017

Hospices Civils de Lyon2017–2017

Top Works

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Sébastien Jacquemont,Alexandre Reymond,et al.

2011476 citations

Genomics and Rare Diseases

Congenital heart defects research

Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy

Claire Navarro,Annachiara De Sandre‐Giovannoli,et al.

2004365 citations

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

Claire Redin,Bénédicte Gérard,et al.

2014272 citations

SRPX2 mutations in disorders of language cortex and cognition

Patrice Roll,Gabrielle Rudolf,et al.

2006256 citations

DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III

Nathalie Dagoneau,Marie Goulet,et al.

2009255 citations

ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-β bioavailability regulation

Carine Le Goff,Fanny Morice‐Picard,et al.

2008241 citations

Circulating cell-free fetal DNA in maternal serum appears to originate from cyto- and syncytio-trophoblastic cells. Case report

Elisabeth Flori

2004184 citations

Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation

Vincent Marion,Corinne Stoetzel,et al.

2009177 citations

Frequent Occurrence of the CFTRIntron 8 (TG)n 5T Allele in Men withCongenital Bilateral Absence of the Vas Deferens

Bruno Costes,E. Girodon,et al.

1995150 citations