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Publications by Bertrand Isidor

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder

American Journal of Human Genetics
Genetics
2020English

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

American Journal of Human Genetics
Genetics
2019English

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder

American Journal of Human Genetics
Genetics
2019English

A Novel Mutation in the TM6 Domain of GABBR2 Leads to a Rett-Like Phenotype

Annals of Neurology
Neurology
2018English

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

Genomic Aberrations of the CACNA2D1 Gene in Three Patients With Epilepsy and Intellectual Disability

European Journal of Human Genetics
Genetics
2014English

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