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Publications by Gregory M. Enns

Bi-Allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes

American Journal of Human Genetics

Genetics

2019

English

Expanding Research to Provide an Evidence Base for Nutritional Interventions for the Management of Inborn Errors of Metabolism

Molecular Genetics and Metabolism

English

Mitochondrial Diseases in North America

English

De Novo Truncating Variants in theAHDC1gene Encoding the AT-hook DNA-binding Motif-Containing Protein 1 Are Associated With Intellectual Disability and Developmental Delay

Cold Spring Harbor molecular case studies

English

A Novel Mutation in the HSD17B10 Gene of a 10-Year-Old Boy With Refractory Epilepsy, Choreoathetosis and Learning Disability

PLoS ONE

Multidisciplinary

2011

English

Advances in Mitochondrial Medicine

Journal of Inborn Errors of Metabolism and Screening

English

Amanote Research

Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Gregory M. Enns

Bi-Allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes

Expanding Research to Provide an Evidence Base for Nutritional Interventions for the Management of Inborn Errors of Metabolism

Mitochondrial Diseases in North America

De Novo Truncating Variants in theAHDC1gene Encoding the AT-hook DNA-binding Motif-Containing Protein 1 Are Associated With Intellectual Disability and Developmental Delay

A Novel Mutation in the HSD17B10 Gene of a 10-Year-Old Boy With Refractory Epilepsy, Choreoathetosis and Learning Disability

Advances in Mitochondrial Medicine