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Katharina Steinmann

Observed name: Steinmann, Katharina
Institution: Universität Ulm
OpenAlex ID: A5091595184
Type 2 NF1 Deletions Are Highly Unusual by Virtue of the Absence of Nonallelic Homologous Recombination Hotspots and an Apparent Preference for Female Mitotic Recombination
2007 · Katharina Steinmann, David N. Cooper, et al. · The American Journal of Human Genetics · 69
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Mechanisms of Loss of Heterozygosity in Neurofibromatosis Type 1-Associated Plexiform Neurofibromas
2008 · Katharina Steinmann, Lan Kluwe, et al. · Journal of Investigative Dermatology · 53
Detection of heterozygousSALL1 deletions by quantitative real time PCR proves the contribution of aSALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome
2006 · Wiktor Borozdin, Katharina Steinmann, et al. · Human Mutation · 49
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Two immunochemical assays to measure advanced glycation end-products in serum from dialysis patients
2005 · Xiaohong Zhang, Matthias Frischmann, et al. · Clinical Chemistry and Laboratory Medicine (CCLM) · 49
A novel third type of recurrent NF1 microdeletion mediated by nonallelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2
2010 · Kathrin Bengesser, David N. Cooper, et al. · Human Mutation · 43
Copy number variations in the NF1 gene region are infrequent and do not predispose to recurrent type-1 deletions
2008 · Katharina Steinmann, Lan Kluwe, et al. · European Journal of Human Genetics · 25
A gene conversion hotspot in the human growth hormone (GH1) gene promoter
2008 · Andreas Wolf, David S. Millar, et al. · Human Mutation · 13
Molekulare Charakterisierung von Typ-II-Deletionen bei Patienten mit Neurofibromatose Typ 1
2008 · Steinmann, Katharina · OPen Access Repositorium der Universität Ulm (OPARU) (Ulm University)
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Copy number variations in the NF1 gene region are infrequent and do not predispose to recurrent type-1 deletions
2008 · Katharina Steinmann, Lan Kluwe, et al. · Medizinische Genetik
Detection of heterozygous SALL1 deletions proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome
2006 · Katharina Steinmann, Wiktor Borozdin, et al. · Genetic counseling
Works count: 10
Citation count: 301
H-index: 7
I10-index: 7
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