Concepedia
Statistics
Publications
4
Citations
534
H-Index
Active since
1990
Affiliations
Essen University Hospital(Current)
Institut für Medizinische Informatik, Biometrie und Epidemiologie
Bernhard Horsthemke is an author at Essen University Hospital specializing in genetics, molecular genetics, and life sciences.
Publications per year
1990–2000
A single-tube PCR test for the diagnosis of Angelman and Prader-Willi syndrome based on allelic methylation differences at the SNRPN locus.
Michael Zeschnigk, Christina Lich, Karin Buiting et al. · PubMed · 1997 · 163 citations
Life Sciences, Genetics, Molecular Genetics +6
Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11–13) by YAC cloning and FISH analysis
Akira Kuwano, Apiwat Mutirangura, Baerbel Dittrich et al. · Human Molecular Genetics · 1992 · 159 citations
Life Sciences, Genetics, Molecular Genetics +8
De novo deletions of SNRPN exon 1 in early human and mouse embryos result in a paternal to maternal imprint switch
Beata Bielińska, Susan M. Blaydes, Karin Buiting et al. · Nature Genetics · 2000 · 146 citations
Life Sciences, Genetics, Molecular Genetics +13
Microdissection of the Prader-Willi syndrome chromosome region and identification of potential gene sequences
Karin Buiting, Michael Neumann, Hermann-Josff Lüdecke et al. · Genomics · 1990 · 66 citations
Life Sciences, Genetics, Molecular Genetics +11
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