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Publications by Walmir Cutrim Aragão-Filho

A Novel Mutation in the NCF2 Gene in a CGD Patient With Chronic Recurrent Pneumopathy

Frontiers in Pediatrics

English

Related publications

A Novel Mutation in NCF2 Resulting in Very-Early-Onset Colitis and Juvenile Idiopathic Arthritis in a Patient With Chronic Granulomatous Disease

Allergy, Asthma and Clinical Immunology

Respiratory Medicine

English

Novel Mutation in the RNASEH1 Gene in a Chronic Progressive External Ophthalmoplegia Patient

Canadian Journal of Ophthalmology

English

A Novel APOC2 Gene Mutation Identified in a Chinese Patient With Severe Hypertriglyceridemia and Recurrent Pancreatitis

Lipids in Health and Disease

Clinical Biochemistry

English

A Novel POLG Gene Mutation in a Patient With SANDO

Journal of Experimental and Integrative Medicine

Alternative Medicine

English

A Novel Mutation of the Ceruloplasmin Gene in a Patient With Heteroallelic Ceruloplasmin Gene Mutation (HypoCPGM)

Tohoku Journal of Experimental Medicine

Molecular Biology

English

Identification of a Novel Mutation of the PRKAR1A Gene in a Patient With Carney Complex With Significant Osteoporosis and Recurrent Fractures

English

A Novel Splice Site Mutation in WAS Gene in Patient With Wiskott-Aldrich Syndrome and Chronic Colitis: A Case Report

BMC Medical Genetics

English

A Patient With Posterior Cortical Atrophy Possesses a Novel Mutation in the Presenilin 1 Gene

Multidisciplinary

English

A Novel Nonsense Mutation of the PEPD Gene in a Japanese Patient With Prolidase Deficiency

Journal of Human Genetics

English