Stephanie Karch

FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants

Diana Mitter, Milka Pringsheim, Marc Kaulisch et al. · Genetics in Medicine · 2017 · 108 citations · Full text

Genetic Disorder, Genetics, Genetic Epidemiology +8

Oligoclonal bands predict multiple sclerosis in children with optic neuritis

Nicole Heußinger, Evangelos Kontopantelis, Janina Gburek‐Augustat et al. · Annals of Neurology · 2015 · 76 citations

Ophthalmology, Neurological Disorder, Isolated Optic Neuritis +13

<i>DDX3X</i> mutations in two girls with a phenotype overlapping Toriello–Carey syndrome

Nicola Dikow, Martin Granzow, Luitgard Graul‐Neumann et al. · American Journal of Medical Genetics Part A · 2017 · 46 citations

POLR3A variants with striatal involvement and extrapyramidal movement disorder

Inga Harting, Murtadha L. Al‐Saady, Ingeborg Krägeloh‐Mann et al. · Neurogenetics · 2020 · 42 citations · Full text

3p25.3 microdeletion of GABA transporters <i>SLC6A1</i> and <i>SLC6A11</i> results in intellectual disability, epilepsy and stereotypic behavior

Nicola Dikow, Bianca Maas, Stephanie Karch et al. · American Journal of Medical Genetics Part A · 2014 · 40 citations