Concepedia
Statistics
Publications
7
Citations
206
H-Index
Active since
2010
Affiliations
University of Bonn(Current)
Life & Brain (Germany)
Institut für Medizinische Biometrie, Informatik und Epidemiologie
Melanie Refke is an author at University of Bonn specializing in genetics, life sciences, and genetic disorders.
Publications per year
2010–2012
Investigation of the male pattern baldness major genetic susceptibility loci AR/EDA2R and 20p11 in female pattern hair loss
Silke Redler, F.F. Brockschmidt, Rachid Tazi‐Ahnini et al. · British Journal of Dermatology · 2012 · 61 citations · Full text
Life Sciences, Endocrinology, Genetics +14
<i>FZD6</i>encoding the Wnt receptor frizzled 6 is mutated in autosomal‐recessive nail dysplasia
Gul Naz, Sandra M. Pasternack, Christophe Perrin et al. · British Journal of Dermatology · 2011 · 46 citations
Life Sciences, Genetics, Molecular Genetics +15
Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex
Sandra M. Pasternack, Melanie Refke, Elham Paknia et al. · The American Journal of Human Genetics · 2012 · 40 citations · Full text
Life Sciences, Genetics, Molecular Genetics +9
A Premature Termination Mutation in a Patient with Lowe Syndrome without Congenital Cataracts: Dropping the “O” in OCRL
Sandra M. Pasternack, Detlef Böckenhauer, Melanie Refke et al. · Klinische Pädiatrie · 2012 · 18 citations
Life Sciences, Genetics, Molecular Genetics +16
Marie Unna hereditary hypotrichosis: Identification of a U2HR mutation in the family from the original 1925 report
Silke Redler, Roland Kruse, Sibylle Eigelshoven et al. · Journal of the American Academy of Dermatology · 2010 · 17 citations
Life Sciences, Genetics, Molecular Genetics +7
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