I. Snoeck
Erasmus MC(NL)
Publications by Year
Research Areas
Neurogenetic and Muscular Disorders Research, RNA modifications and cancer, Multiple Sclerosis Research Studies, Congenital Diaphragmatic Hernia Studies, Fetal and Pediatric Neurological Disorders
Most-Cited Works
- → Mutations in the β-tubulin gene TUBB2B result in asymmetrical polymicrogyria(2009)371 cited
- → Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome(2012)349 cited
- → Doublecortin Is the Major Gene Causing X-Linked Subcortical Laminar Heterotopia (SCLH)(1998)262 cited
- → Association of motor milestones, SMN2 copy and outcome in spinal muscular atrophy types 0–4(2017)136 cited
- → Incidence of acquired demyelinating syndromes of the CNS in Dutch children: a nationwide study(2012)111 cited
- → Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations(2006)78 cited
- → Survival in SMA type I: A prospective analysis of 34 consecutive cases(2008)67 cited
- → Incidence and outcome of acquired demyelinating syndromes in Dutch children: update of a nationwide and prospective study(2018)65 cited
- → Neonatal Diffusion-Weighted MR Imaging: Relation with Histopathology or Follow-Up MR Examination(2002)61 cited
- → A new variable phenotype in spinocerebellar ataxia 27 (SCA 27) caused by a deletion in the FGF14 gene(2013)50 cited