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List of works by Ingo Helbig

Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies

scientific article

De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome

scientific article

Galanin pathogenic mutations in temporal lobe epilepsy

scientific article

Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study

article

Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy

scientific journal article

Status epilepticus and refractory status epilepticus management

scientific article

The Human Phenotype Ontology in 2017

scientific article (publication date: 28 November 2016)

The Human Phenotype Ontology in 2021

scientific article published on 02 December 2020

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

scientific article (publication date: 2014)

Understanding Genotypes and Phenotypes in Epileptic Encephalopathies

scientific article

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