Turgut Tükel
New York University(US)Icahn School of Medicine at Mount Sinai(US)
Publications by Year
Research Areas
Lysosomal Storage Disorders Research, Hereditary Neurological Disorders, Neurogenetic and Muscular Disorders Research, Neurological diseases and metabolism, Trypanosoma species research and implications
Most-Cited Works
- → High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening*(2006)997 cited
- → Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia(2001)359 cited
- → Mutations in Capillary Morphogenesis Gene-2 Result in the Allelic Disorders Juvenile Hyaline Fibromatosis and Infantile Systemic Hyalinosis(2003)195 cited
- → Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome(2003)79 cited
- → Frequency of renal malformations in Turner syndrome: analysis of 82 Turkish children(2000)78 cited
- → The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family(2002)75 cited
- → Homozygous Nonsense Mutations in TWIST2 Cause Setleis Syndrome(2010)71 cited
- → Crohn Disease: Frequency and Nature of CARD15 Mutations in Ashkenazi and Sephardi/Oriental Jewish Families(2004)59 cited
- → A Novel Semiquantitative Polymerase Chain Reaction/Enzyme Digestion-Based Method for Detection of Large Scale Deletions/Conversions of the CYP21 Gene and Mutation Screening in Turkish Families with 21-Hydroxylase Deficiency(2003)43 cited
- → Identification and Functional Assessment of Novel and Known Insulin Receptor Mutations in Five Patients with Syndromes of Severe Insulin Resistance(2003)39 cited