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Publications by N J Galjart

Cathepsin a Deficiency in Galactosialidosis: Studies of Patients and Carriers in 16 Families

Pediatric Research

English

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Acid Carboxypeptidase Deficiency in Galactosialidosis

Japanese journal of human genetics

English

HLA and Hormonal Studies in Families of Patients With 21-Hydroxylase Deficiency - Cryptic Patients?

Pediatric Research

English

Compound Heterozygous SPATA5 Variants in Four Families and Functional Studies of SPATA5 Deficiency

European Journal of Human Genetics

English

Cathepsin E Deficiency Impairs Autophagic Proteolysis in Macrophages

Multidisciplinary

English

Galactosialidosis

English

Interest of Individuals From BRCA Families to Participate in Research Studies Focused on Male BRCA Carriers

Familial Cancer

Cancer Research

English

Genomic Studies in Fragile X Premutation Carriers

Journal of Neurodevelopmental Disorders

Cognitive Neuroscience

Forensic Medicine

English

Myophosphorylase Deficiency (McArdle's Disease) in Two Interrelated Families

Journal of Neurology, Neurosurgery and Psychiatry

English

Studies in Deficiency Disease

JAMA - Journal of the American Medical Association

English