Robert Maiwald
Heidelberg University(DE)
Publications by Year
Research Areas
Atmospheric and Environmental Gas Dynamics, Genetics and Neurodevelopmental Disorders, Wind and Air Flow Studies, Air Quality Monitoring and Forecasting, Atmospheric chemistry and aerosols
Most-Cited Works
- → Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome(2010)366 cited
- → Next-generation sequencing in X-linked intellectual disability(2015)149 cited
- → Reduced folate transport to the CNS in female Rett patients(2003)95 cited
- → Rapid screening of the Y chromosome in idiopathic sterile men, diagnostic for deletions in AZF, a genetic Y factor expressed during spermatogenesis(2009)93 cited
- → Genetic analysis of a severe case of Netherton syndrome and application for prenatal testing(2002)55 cited
- → Contribution of novel ATGL missense mutations to the clinical phenotype of NLSD-M: a strikingly low amount of lipase activity may preserve cardiac function(2012)50 cited
- → The power of the Mediator complex—Expanding the genetic architecture and phenotypic spectrum of MED12‐related disorders(2018)27 cited
- → De novo MECP2 mutation in a 46,XX male patient with Rett syndrome(2002)24 cited
- → A fast polymerase chain reaction-mediated strategy for introducing repeat expansions into CAG-repeat containing genes(1999)19 cited
- → CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology(2023)18 cited