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Publications by Damien Sanlaville

Genetic and Neurodevelopmental Spectrum ofSYNGAP1-associated Intellectual Disability and Epilepsy

Journal of Medical Genetics

English

A Systematic Variant Screening in Familial Cases of Congenital Heart Defects Demonstrates the Usefulness of Molecular Genetics in This Field

European Journal of Human Genetics

English

Autism Spectrum Disorder Associated With 49,XYYYY: Case Report and Review of the Literature

BMC Medical Genetics

English

Paradoxical NSD1 Mutations in Beckwith-Wiedemann Syndrome and 11p15 Anomalies in Sotos Syndrome

American Journal of Human Genetics

English

Submicroscopic Duplications of the Hydroxysteroid Dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 Are Associated With Mental Retardation

American Journal of Human Genetics

English

128

American Journal of Kidney Diseases

English

Functional Disomy of the Xq28 Chromosome Region

European Journal of Human Genetics

English