Dauerhafte URL dieser Seite: https://heibib.ub.uni-heidelberg.de/person/1257379321
Hempel, Maja (Prof. Dr. med.)
Newest Titles
- Phenotypical and genotypical expansion of autosomal-dominant KDM1A-related neurodevelopmental disorder spectrum: a case reportArticle (Journal), Online Resource
- Prolonged apnea in a boy with epilepsy and a novel gain-of-function missense CACNA1A variant indicating SUDEP riskArticle (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
- Novel biallelic COL25A1 variants broaden the clinical spectrum from congenital cranial dysinnervation disorders to fetal lethal phenotypesArticle (Journal), Online Resource
- Response to Downie et al.Article (Journal), Editorial, Online Resource
see all (26)
Alle anzeigen (incl. other editions/formats) (27)