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Publications by Christèle Dubourg

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

American Journal of Human Genetics
Genetics
2019English

Heterozygous Loss-Of-Function Variants of MEIS2 Cause a Triad of Palatal Defects, Congenital Heart Defects, and Intellectual Disability

European Journal of Human Genetics
Genetics
2018English

Recent Advances in Understanding Inheritance of Holoprosencephaly

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics
Genetics
2018English

Homozygous Deletion of an 80kb Region Comprising Part of DNAJC6 and LEPR Genes on Chromosome 1P31.3 Is Associated With Early Onset Obesity, Mental Retardation and Epilepsy

Molecular Genetics and Metabolism
GeneticsMolecular BiologyBiochemistryEndocrinologyMetabolismDiabetes
2012English

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