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Publications by Thomas Smol

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

American Journal of Human Genetics

English

HNRNPR Variants That Impair Homeobox Gene Expression Drive Developmental Disorders in Humans

American Journal of Human Genetics

English

Holt-Oram Syndrome: Clinical and Molecular Description of 78 Patients With TBX5 Variants

European Journal of Human Genetics

English

Lessons From the Analysis of TAD Boundary Deletions in Normal Population

English