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Mutation Research|May 26, 2009
Genotype-phenotype correlations in Fanconi anemiaKornelia Neveling, Daniela Endt, Holger Hoehn, et al.
Pediatric Dermatology|December 4, 2004
Postnatal confirmation of prenatally diagnosed trisomy 20 mosaicism in a patient with linear and whorled nevoid hypermelanosisAnke Hartmann, Uta B Hofmann, Holger Hoehn, et al.
Radiation Research|February 26, 2004
Lack of sensitivity of primary Fanconi's anemia fibroblasts to UV and ionizing radiationReinhard Kalb, Michael Duerr, Matthias Wagner, et al.
Orphanet Journal of Rare Diseases|January 17, 2007
Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failureBernd Gruhn, Joerg Seidel, Felix Zintl, et al.
European Journal of Pediatrics|January 18, 2006
Exclusion/confirmation of ataxia-telangiectasia via cell-cycle testingTilman Heinrich, Carolin Prowald, Richard Friedl, et al.
Fetal Diagnosis and Therapy|December 16, 2005
Prenatal exclusion/confirmation of Fanconi anemia via flow cytometry: a pilot studyAstrid Bechtold, Richard Friedl, Reinhard Kalb, et al.
Environmental and Molecular Mutagenesis|February 14, 2006
Radiation-induced DNA damage and repair in peripheral blood mononuclear cells from Nijmegen breakage syndrome patients and carriers assessed by the Comet assaySusann Bürger, Detlev Schindler, Martin Fehn, et al.
Experimental Cell Research|September 23, 2003
Yeast two-hybrid screens imply involvement of Fanconi anemia proteins in transcription regulation, cell signaling, oxidative metabolism, and cellular transportTanja Y Reuter, Annette L Medhurst, Quinten Waisfisz, et al.
Hepatology Research : the Official Journal of the Japan Society of Hepatology|May 17, 2013
Living related liver transplantation in an adult patient with hepatocellular adenoma and carcinoma 13 years after bone marrow transplantation for Fanconi anemia: A case reportIsabelle Colle, Geneviève Laureys, Sarah Raevens, et al.
American Journal of Human Genetics|April 17, 2007
Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotypeReinhard Kalb, Kornelia Neveling, Holger Hoehn, et al.
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