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Publications by Nynke Oosterhof

Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia

American Journal of Human Genetics

English

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Homozygous Loss-Of-Function Mutations in SLC26A7 Cause Goitrous Congenital Hypothyroidism

Yearbook of Paediatric Endocrinology

English

Feline Congenital Erythropoietic Porphyria: Two Homozygous UROS Missense Mutations Cause the Enzyme Deficiency and Porphyrin Accumulation

Molecular Medicine

Molecular Medicine

Molecular Biology

English

ACTN1 Mutations Cause Congenital Macrothrombocytopenia

American Journal of Human Genetics

English

Mutations in EMP2 Cause Childhood-Onset Nephrotic Syndrome

American Journal of Human Genetics

English

Mutations in the Mitochondrial Tryptophanyl‐tRNA Synthetase Cause Growth Retardation and Progressive Leukoencephalopathy

Molecular genetics & genomic medicine

Molecular Biology

English

Mutations in FYCO1 Cause Autosomal-Recessive Congenital Cataracts

American Journal of Human Genetics

English

Clinicopathologic Characterization and Abnormal Autophagy of CSF1R-related Leukoencephalopathy

Translational Neurodegeneration

Molecular Neuroscience

Cognitive Neuroscience

English

Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome

American Journal of Human Genetics

English

Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease

American Journal of Human Genetics

English