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Publications by Elyshia McNamara

TPM3deletions Cause a Hypercontractile Congenital Muscle Stiffness Phenotype

Annals of Neurology

English

A Mutation in an Alternative Untranslated Exon of Hexokinase 1 Associated With Hereditary Motor and Sensory Neuropathy – Russe (HMSNR)

European Journal of Human Genetics

English

Related publications

ACTN1 Mutations Cause Congenital Macrothrombocytopenia

American Journal of Human Genetics

English

Muscle Stiffness and Vitamin C

English

Bartonella Henselae AS a PUTATIVE CAUSE OF CONGENITAL CHOLESTASIS

Revista do Instituto de Medicina Tropical de Sao Paulo

Infectious Diseases

English

Mutations in ANKS6 Cause a Nephronophthisis-Like Phenotype With ESRD

Journal of the American Society of Nephrology : JASN

English

Congenital Cytomegalovirus Infection: A Cause of Sensorineural Hearing Loss.

Archives of Disease in Childhood

English

Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation

American Journal of Human Genetics

English

Seeking the Cause of Myofascial Pain Syndrome by Identifying Which Manual Therapy Is Effective Against Muscle Tenderness and Stiffness

Journal of Physical Therapy Science

Physical Therapy

English

Glucose-Galactose Malabsorption – A Rare Cause of Severe Congenital Diarrhoea

Clinical Nutrition ESPEN

English

Large Choroid Plexus Teratoma: A Rare Cause of Congenital Hydrocephalus

English