Elke Botzenhart
Heidelberg University(DE)University Medical Center Freiburg(DE)University of Lübeck(DE)
Publications by Year
Research Areas
Amino Acid Enzymes and Metabolism, Folate and B Vitamins Research, Metabolism and Genetic Disorders, Pediatric Urology and Nephrology Studies, Renal and related cancers
Most-Cited Works
- → Increasing the Yield in Targeted Next-Generation Sequencing by Implicating CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Retinal Dystrophies(2013)227 cited
- → Mutations in TRPV4 cause an inherited arthropathy of hands and feet(2011)155 cited
- → Personalized Clinical Decision Making Through Implementation of a Molecular Tumor Board: A German Single-Center Experience(2018)106 cited
- → SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype(2005)69 cited
- → Cystinuria in children: Distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes(2002)62 cited
- → Townes-Brocks syndrome: twenty novelSALL1 mutations in sporadic and familial cases and refinement of theSALL1 hot spot region(2007)59 cited
- → Expanding the spectrum ofTBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations(2006)49 cited
- → Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions(2007)48 cited
- → Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophy(2006)35 cited
- Genetic variations of the SLC7A9 gene: allele distribution of 13 polymorphic sites in German cystinuria patients and controls.(2003)