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Publications by Rami Abou Jamra

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

American Journal of Human Genetics

English

Mutations in MBOAT7 , Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features

American Journal of Human Genetics

English

Variants in PUS7 Cause Intellectual Disability With Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior

American Journal of Human Genetics

English

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons

American Journal of Human Genetics

English

A New P.(Ile66Serfs*93) IGF2 Variant Is Associated With Pre- And Postnatal Growth Retardations

European Journal of Endocrinology

English

Clinical Exome Sequencing: Results From 2819 Samples Reflecting 1000 Families

European Journal of Human Genetics

English