Concepedia

Stefanie Katzke

SK

3

Publications

294

Citations

3

H-Index

2000

Active since

Affiliations

Rigshospitalet(Current)

Charité - Universitätsmedizin Berlin

University Hospital Carl Gustav Carus

Goethe University Frankfurt

Stefanie Katzke is an author at Rigshospitalet specializing in medicine, monogenic disorders, and genetics.

Top concepts

GeneticsMedicinePathologyMonogenic DisordersPathogenesisPublic HealthClinical GeneticsMolecular MedicineFibrosisGenomics

Publications per year

2000–2002

3

Publications

3

Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype–phenotype correlations in FBN1 exons 24–40

Frank Tiecke, Stefanie Katzke, Patrick Booms et al. · European Journal of Human Genetics · 2001 · 157 citations · Full text

Mendelian Disorder, Genetic Disorder, Medicine +10

TGGE screening of the entire<i>FBN1</i>coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies

Stefanie Katzke, Patrick Booms, Frank Tiecke et al. · Human Mutation · 2002 · 74 citations

Genetics, Genetic Epidemiology, Pathology +18

Clustering of mutations associated with mild Marfan-like phenotypes in the 3? region ofFBN1 suggests a potential genotype-phenotype correlation

Monika Palz, Frank Tiecke, Patrick Booms et al. · American Journal of Medical Genetics · 2000 · 63 citations

Genetics, Pathology, Disease Gene Identification +19

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