Őzgür Sancak

Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype – phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex

Őzgür Sancak, Mark Nellist, Miriam Goedbloed et al. · European Journal of Human Genetics · 2005 · 481 citations

Tuberous Sclerosis Complex, Molecular Diagnostic Techniques, Diagnostic Dna Techniques +10

Unusually mild tuberous sclerosis phenotype is associated with<i>TSC2</i>R905Q mutation

Anna Jansen, Őzgür Sancak, Daniela D’Agostino et al. · Annals of Neurology · 2006 · 103 citations

Distinct effects of single amino-acid changes to tuberin on the function of the tuberin–hamartin complex

Mark Nellist, Őzgür Sancak, Miriam Goedbloed et al. · European Journal of Human Genetics · 2004 · 82 citations · Full text

Molecular Pharmacology, Biochemistry, Medicine +4

Functional characterisation of the TSC1–TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex

Mark Nellist, Őzgür Sancak, Miriam Goedbloed et al. · BMC Medical Genetics · 2008 · 29 citations · Full text

Large Deletion at the <i>TSC1</i> Locus in a Family with Tuberous Sclerosis Complex

Mark Nellist, Őzgür Sancak, Miriam Goedbloed et al. · Genetic Testing · 2005 · 12 citations

Tuberous Sclerosis Complex, Gene Deletion Data, Large Deletion +13