Yves Alembik
Hôpitaux Universitaires de Strasbourg(FR)Génétique Médicale & Génomique Fonctionelle(FR)Laboratoire de Génétique Médicale(FR)
Publications by Year
Research Areas
Prenatal Screening and Diagnostics, Congenital Anomalies and Fetal Surgery, Genetics and Neurodevelopmental Disorders, Connective tissue disorders research, Genomic variations and chromosomal abnormalities
Most-Cited Works
- → Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus(2011)475 cited
- → ADAMTS10 Mutations in Autosomal Recessive Weill-Marchesani Syndrome(2004)278 cited
- → Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing(2014)272 cited
- → Birth prevalence rates of skeletal dysplasias(1989)239 cited
- → Associated congenital anomalies among cases with Down syndrome(2015)235 cited
- → Landau‐Kleffner Syndrome: A Pharmacologic Study of Five Cases(1990)211 cited