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Publications by J. Pijpe

Mosaic Segmental Uniparental Isodisomy and Progressive Clonal Selection: A Common Mechanism of Late Onset -Thalassemia Major

English

Related publications

Segmental and Total Uniparental Isodisomy (UPiD) as a Disease Mechanism in Autosomal Recessive Lysosomal Disorders: Evidence From SNP Arrays

European Journal of Human Genetics

English

Thalassemia Major Due to Acquired Uniparental Disomy in a Previously Healthy Adolescent

English

Maternal Uniparental Isodisomy for Chromosome 6 Discovered by Paternity Testing: A Case Report

Molecular Cytogenetics

Molecular Medicine

Molecular Biology

English

Uniparental Isodisomy 6 Associated With Deficiency of the Fourth Component of Complement.

Journal of Clinical Investigation

English

Paternal Uniparental Isodisomy of Chromosome 11p15.5 Within the Pancreas Causes Isolated Hyperinsulinemic Hypoglycemia

Frontiers in Endocrinology

English

P.052 Late-Onset Adrenoleukodystrophy Mimicking Primary Progressive Multiple Sclerosis

Canadian Journal of Neurological Sciences

English

Segmental Uniparental Disomy of Chromosome 4 in a Patient With Methylmalonic Acidemia

Molecular genetics & genomic medicine

Molecular Biology

English

Segmental Isodisomy in Prader–Willi Syndrome Patients: The Experience of a Single Diagnostic Center

Pediatrics and Neonatology

English

Late Onset Corneal Haze After Corneal Collagen Crosslinking for Progressive Keratoconus

Acta Ophthalmologica

English