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Yves Alembik | Researchclopedia

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Yves Alembik

Hôpitaux Universitaires de Strasbourg

178

Works

7,407

Citations

47

h-index

105

i10-index

Research Topics

Prenatal Screening and Diagnostics Congenital Anomalies and Fetal Surgery Genetics and Neurodevelopmental Disorders

Affiliations

Hôpital Necker-Enfants Malades2008–2008

Centre National de la Recherche Scientifique1986–1986

Inserm1986–2008

Université Paris Cité2008–2008

Sorbonne Université2023–2023

Top Works

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

Sébastien Jacquemont,Alexandre Reymond,et al.

2011476 citations

Connective tissue disorders research

Genomic variations and chromosomal abnormalities

ADAMTS10 Mutations in Autosomal Recessive Weill-Marchesani Syndrome

Nathalie Dagoneau,Catherine Benoist-Lasselin,et al.

2004278 citations

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

Claire Redin,Bénédicte Gérard,et al.

2014272 citations

Birth prevalence rates of skeletal dysplasias

Claude Stoll,Béatrice Dott,et al.

1989239 citations

Associated congenital anomalies among cases with Down syndrome

Claude Stoll,Béatrice Dott,et al.

2015235 citations

Landau‐Kleffner Syndrome: A Pharmacologic Study of Five Cases

Christian Marescaux,Édouard Hirsch,et al.

1990211 citations

Associated malformations in patients with anorectal anomalies

Claude Stoll,Yves Alembik,et al.

2007190 citations

Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome

Grégory Raux,Emilie Bumsel,et al.

2006170 citations

Omphalocele and gastroschisis and associated malformations

Claude Stoll,Yves Alembik,et al.

2008167 citations