Turgut Tükel

High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening*

Marco Spada, Severo Pagliardini, Makiko Yasuda et al. · The American Journal of Human Genetics · 2006 · 988 citations · Full text

Mendelian Disorder, Pediatrics, Prenatal Diagnosis +4

Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia

Xinping Zhao, David M. Alvarado, Shirley Rainier et al. · Nature Genetics · 2001 · 356 citations

Mendelian Disorder, Genetic Disorder, Medicine +6

Mutations in Capillary Morphogenesis Gene-2 Result in the Allelic Disorders Juvenile Hyaline Fibromatosis and Infantile Systemic Hyalinosis

Oonagh Dowling, Analisa DiFeo, Maria Celeste M. Ramirez et al. · The American Journal of Human Genetics · 2003 · 195 citations · Full text

Developmental Anomaly, Fibrosis, Developmental Biology +5

Homozygous and heterozygous inheritance of <i>PAX3</i> mutations causes different types of Waardenburg syndrome

Bernd Wollnik, Turgut Tükel, Zehra Oya Uyguner et al. · American Journal of Medical Genetics Part A · 2003 · 79 citations

Genetics, Pathology, Heterozygous Inheritance +16

Frequency of renal malformations in Turner syndrome: analysis of 82 Turkish children

İlmay Bilge, Hülya Kayserili, Sevinç Emre et al. · Pediatric Nephrology · 2000 · 78 citations

Turkish Children, Urology, Medicine +7