Fatih Gürbüz

Inactivating<i>KISS1</i>Mutation and Hypogonadotropic Hypogonadism

A. Kemal Topaloğlu, Javier A. Tello, Leman Damla Kotan et al. · New England Journal of Medicine · 2012 · 468 citations · Full text

Medicine, Endocrinology, Molecular Genetics +17

MCM9 Mutations Are Associated with Ovarian Failure, Short Stature, and Chromosomal Instability

Michelle A. Wood, Fatih Gürbüz, Svetlana A. Yatsenko et al. · The American Journal of Human Genetics · 2014 · 235 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Loss-of-Function Mutations in<i>PNPLA6</i>Encoding Neuropathy Target Esterase Underlie Pubertal Failure and Neurological Deficits in Gordon Holmes Syndrome

A. Kemal Topaloğlu, Alejandro Lomniczi, Doris Kretzschmar et al. · The Journal of Clinical Endocrinology & Metabolism · 2014 · 106 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Mutations in FEZF1 Cause Kallmann Syndrome

Leman Damla Kotan, B. Ian Hutchins, Yusuf Özkan et al. · The American Journal of Human Genetics · 2014 · 78 citations · Full text

Life Sciences, Genetics, Molecular Genetics +7

Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: Outcomes of Extended Pilot Study in 241,083 Infants

Tülay Güran, Başak Tezel, Meltem Didem Çakır et al. · Journal of Clinical Research in Pediatric Endocrinology · 2020 · 73 citations · Full text

Medicine, Endocrinology, Pediatrics +17