Manfred Stuhrmann

Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens

Thilo Dörk, Bernd Dworniczak, C. Aulehla‐Scholz et al. · Human Genetics · 1997 · 256 citations

Developmental Anomaly, Distinct Spectrum, Developmental Biology +11

Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe

Thilo Dörk, Milan Maçek, Frauke Mekus et al. · Human Genetics · 2000 · 145 citations

Fibrosis, Mendelian Disorder, Genetic Disorder +11

Frequency of BRCA1 Mutation 5382insC in German Breast Cancer Patients

J. Backe, Sigrun Hofferbert, Britta Skawran et al. · Gynecologic Oncology · 1999 · 71 citations

Tumor Biology, Breast Oncology, Somatic Variant +9

Mitotic recombination and compound-heterozygous mutations are predominant NF1-inactivating mechanisms in children with juvenile myelomonocytic leukemia and neurofibromatosis type 1

Doris Steinemann, Larissa Arning, Inka Praulich et al. · Haematologica · 2009 · 69 citations · Full text

Hematological Malignancy, Chromatin, Genome Instability +15

Polymorphisms of the humanβ-defensin-1gene

Thilo Dörk, Manfred Stuhrmann · Molecular and Cellular Probes · 1998 · 58 citations

Molecular Physiology, Genetics, Genetic Epidemiology +3