Dauerhafte URL dieser Seite: https://heibib.ub.uni-heidelberg.de/person/1257379321
Hempel, Maja (Prof. Dr. med.)
Newest Titles
- Prolonged apnea in a boy with epilepsy and a novel gain-of-function missense CACNA1A variant indicating SUDEP riskArticle (Journal), Online Resource
- Constitutional variants in PTEN: a frequent finding in patients with papillary tumors of the pineal region subtype B (PTPR-B) associated with isolated loss of chromosome 10Article (Journal), Editorial, Online Resource
- Unraveling the genomic architecture of supernumerary (iso-)dicentric chromosomes in Dup15q syndrome: insight from a systematic literature-based studyArticle (Journal), Chapter/Article, Online Resource
- Phenotypical and genotypical expansion of autosomal-dominant KDM1A-related neurodevelopmental disorder spectrum: a case reportArticle (Journal), Online Resource
- Author correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findingsArticle (Journal), Online Resource
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