about
Comparison of antiepileptic drugs, no treatment, or placebo for children with benign epilepsy with centro temporal spikesRole of reverse phenotyping in interpretation of next generation sequencing data and a review of INPP5E related disorders.Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophyAssessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.Mutation of TBCK causes a rare recessive developmental disorder.Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.Autoantibody biomarkers in childhood-acquired demyelinating syndromes: results from a national surveillance cohort.Acquired transverse myelopathy in children in the United Kingdom--a 2 year prospective study.Muscle biopsy without centrally located nuclei in a male child with mild X-linked myotubular myopathy.How to use tests for disorders of copper metabolism.Reading comprehension difficulties in children with rolandic epilepsy.Severe progressive late onset myelopathy and arachnoiditis following neonatal meningitis.Choline Kinase Beta-Related Muscular Dystrophy, Appearance of Muscle Involvement on Magnetic Resonance Imaging.Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutations.Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.Genotype–phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutationsUrinary problems following acute transverse myelitis in childrenProgressive late-onset myelopathy and arachnoiditis following neonatal meningitisInvestigation of developmental delay
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P50
description
researcher
@en
wetenschapper
@nl
name
Christian G E L de Goede
@en
Christian G E L de Goede
@nl
type
label
Christian G E L de Goede
@en
Christian G E L de Goede
@nl
prefLabel
Christian G E L de Goede
@en
Christian G E L de Goede
@nl
P106
P31
P496
0000-0001-7772-5972