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Publicaties

De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila

Phenotypic expansion of EGP5-related Vici syndrome: 15 Dutch patients carrying a founder variant

Prevalence of Bladder and Bowel Dysfunction in Duchenne Muscular Dystrophy Using the Childhood Bladder and Bowel Dysfunction Questionnaire

Influence of guidelines on management of paediatric mild traumatic brain injury: CT-assessment and admission policy

The juvenile head trauma syndrome Deterioration after mild TBI: Diagnosis and clinical presentation at the Emergency Department

Absent Thalami Caused by a Homozygous EARS2 Mutation: Expanding Disease Spectrum of LTBL

A heritable form of SMARCE1-related meningiomas with important implications for follow-up and family screening

Neurofibromatosis type 1 associated low grade gliomas: A comparison with sporadic low grade gliomas

Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome

Forty-five years of Duchenne muscular dystrophy in The Netherlands

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