Raimund Fahsold

Minor Lesion Mutational Spectrum of the Entire NF1 Gene Does Not Explain Its High Mutability but Points to a Functional Domain Upstream of the GAP-Related Domain

Raimund Fahsold, Sven Hoffmeyer, Claudia Mischung et al. · The American Journal of Human Genetics · 2000 · 308 citations · Full text

Life Sciences, Genetics, Molecular Genetics +7

Myotonic dystrophy: Correlation of clinical symptoms with the size of the CTG trinucleotide repeat

A. Jaspert, Raimund Fahsold, H. Grehl et al. · Journal of Neurology · 1995 · 84 citations

Medicine, Molecular Genetics, Molecular Medicine +8

Marfan syndrome with neonatal progeroid syndrome‐like lipodystrophy associated with a novel frameshift mutation at the 3′ terminus of the <i>FBN1</i>‐gene

Luitgard Graul‐Neumann, Tina Kienitz, Peter N. Robinson et al. · American Journal of Medical Genetics Part A · 2010 · 83 citations

Life Sciences, Genetics, Molecular Genetics +17

Independent <i>NF1</i> and <i>PTPN11</i> mutations in a family with neurofibromatosis‐Noonan syndrome

Christian T. Thiel, Martin Wilken, Martin Zenker et al. · American Journal of Medical Genetics Part A · 2009 · 61 citations

Medicine, Genetics, Molecular Genetics +13

A variable combination of features of Noonan syndrome and neurofibromatosis type I are caused by mutations in the <i>NF1</i> gene

Ulrike Hüffmeier, Martin Zenker, Juliane Hoyer et al. · American Journal of Medical Genetics Part A · 2006 · 54 citations

Life Sciences, Genetics, Molecular Genetics +13