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European Journal of Medical Genetics|May 27, 2008
Catel-Manzke syndrome: two new patients and a critical review of the literatureHermann Manzke, Katarina Lehmann, Eva Klopocki, et al.
American Journal of Medical Genetics. Part A|July 17, 2008
Compound heterozygosity for GDF5 in Du Pan type chondrodysplasiaSofia Douzgou, Katarina Lehmann, Rita Mingarelli, et al.
American Journal of Medical Genetics. Part A|July 29, 2003
Antenatal onset of cortical hyperostosis (Caffey disease): case report and reviewSusann Schweiger, Rabih Chaoui, Cornelia Tennstedt, et al.
Prenatal Diagnosis|May 10, 2002
Prenatal diagnosis of partial agenesis of the corpus callosum in a fetus with thanatophoric dysplasia type 2Karim D Kalache, Katarina Lehmann, Rabih Chaoui, et al.
European Journal of Human Genetics : EJHG|September 8, 2006
A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2Katarina Lehmann, Petra Seemann, Jan Boergermann, et al.
Human Molecular Genetics|January 22, 2008
Brachydactyly type A2 associated with a defect in proGDF5 processingFrank Plöger, Petra Seemann, Mareen Schmidt-von Kegler, et al.
American Journal of Medical Genetics|February 22, 2002
Ring chromosome 6 in three fetuses: case reports, literature review, and implications for prenatal diagnosisMaik Urban, Christiane Bommer, Cornelia Tennstedt, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 3, 2003
Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2Katarina Lehmann, Petra Seemann, Sigmar Stricker, et al.
The Journal of Clinical Investigation|August 30, 2005
Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2Petra Seemann, Raphaela Schwappacher, Klaus W Kjaer, et al.
Human Molecular Genetics|September 24, 2004
Polyalanine expansion in HOXA13: three new affected families and the molecular consequences in a mouse modelJeffrey W Innis, Douglas Mortlock, Zhi Chen, et al.
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