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Publications by Lisa Emrick

Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation

American Journal of Human Genetics

English

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

American Journal of Human Genetics

English

Related publications

Congenital Disorder of Glycosylation

English

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder

American Journal of Human Genetics

English

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder

American Journal of Human Genetics

English

Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans

American Journal of Human Genetics

English

Anesthetic Management of a Boy With Congenital Disorder of Glycosylation (CDG) I-X

International Journal of Clinical Medicine

English

Clinical Utility Gene Card For: GALNT3 Defective Congenital Disorder of Glycosylation

European Journal of Human Genetics

English

MPDU1 Mutations Underlie a Novel Human Congenital Disorder of Glycosylation, Designated Type If

Journal of Clinical Investigation

English

PO-0827 Conotruncal Heart Defect in a Patient With Congenital Disorder of Glycosylation Type I

Archives of Disease in Childhood

English

Pathogenic Variants in the X‐linked BCOR Gene Cause Two Different Syndromes

Acta Ophthalmologica

English