Eve Õiglane‐Shlik

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

Markus Wolff, Katrine M. Johannesen, Ulrike B. S. Hedrich et al. · Brain · 2017 · 558 citations · Full text

Biallelic <i>CACNA1A</i> mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy

Karit Reinson, Eve Õiglane‐Shlik, Inga Talvik et al. · American Journal of Medical Genetics Part A · 2016 · 83 citations

Three patients with 9p deletions including DMRT1 and DMRT2: A girl with XY complement, bilateral ovotestes, and extreme growth retardation, and two XX females with normal pubertal development

Katrin Õunap, Riina Žordania, Liina Kiho et al. · American Journal of Medical Genetics Part A · 2004 · 73 citations

Xy Complement, Cytogenetics, Genetics +19

Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia

Sanna Puusepp, Karit Reinson, Sander Pajusalu et al. · Molecular Genetics and Metabolism Reports · 2018 · 46 citations · Full text

Monosomy 1p36 – A multifaceted and still enigmatic syndrome: Four clinically diverse cases with shared white matter abnormalities

Eve Õiglane‐Shlik, Sanna Puusepp, Inga Talvik et al. · European Journal of Paediatric Neurology · 2014 · 41 citations