List of works - Hannah Stamberger - Paulina

List of works by Hannah Stamberger

Assessing the landscape of STXBP1-related disorders in 534 individuals

scientific article published on 01 June 2022

De novo variants in neurodevelopmental disorders with epilepsy

scientific article published on 25 June 2018

Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.

scientific article

Diagnostic implications of genetic copy number variation in epilepsy plus

scientific article published on 13 March 2019

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

scientific article published on 4 March 2017

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

scientific article published on 04 November 2020

Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.

scientific article published on 30 July 2016

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