Stuhrmann, Manfred

Top Publications

Top Publications Authored or Co-Authored by "Stuhrmann, Manfred"

• Novel and characteristic CFTR mutations in Saudi Arab children with severe cystic fibrosis

  Journal of Medical Genetics, Volume 34, No. 12, Year 1997, Citations 56
• Dyschromatosis universalis hereditaria: Evidence for autosomal recessive inheritance and identification of a new locus on chromosome 12q21-q23

  Clinical Genetics, Volume 73, No. 6, Year 2008, Citations 43
• LDLR Database (second edition): New additions to the database and the software, and results of the first molecular analysis

  Nucleic Acids Research, Volume 26, No. 1, Year 1998, Citations 20
• Familial thrombocytosis as a recessive, possibly X-linked trait in an Arab family

  British Journal of Haematology, Volume 112, No. 3, Year 2001, Citations 19
• Familial thrombocytosis caused by the novel germ-line mutation p.Pro106Leu in the MPL gene

  British Journal of Haematology, Volume 144, No. 2, Year 2009, Citations 14