Naz Güleray Lafcı

A Monogenic Disease with a Variety of Phenotypes: Deficiency of Adenosine Deaminase 2

Seza Özen, Ezgi Deniz Batu, Ekim Z. Taşkıran et al. · The Journal of Rheumatology · 2019 · 99 citations

HERC1 mutations in idiopathic intellectual disability

Gülen Eda Ütine, Ekim Z. Taşkıran, Can Koşukçu et al. · European Journal of Medical Genetics · 2017 · 43 citations

Mendelian Disorder, Genetic Disorder, Genetics +5

Retrospective analysis of indications for termination of pregnancy

Özgür Özyüncü, Gökçen Örgül, Atakan Tanaçan et al. · Journal of Obstetrics and Gynaecology · 2018 · 23 citations

Peters Plus syndrome: a recognizable clinical entity

Gizem Ürel Demir, Naz Güleray Lafcı, Özlem Akgün Doğan et al. · The Turkish Journal of Pediatrics · 2020 · 13 citations · Full text

Genetics, Genetic Epidemiology, Pathology +18

An intronic variant in BRAT1 creates a cryptic splice site, causing epileptic encephalopathy without prominent rigidity

Fatma Çolak, Naz Güleray Lafcı, Ebru Azapağası et al. · Acta Neurologica Belgica · 2020 · 13 citations · Full text

Developmental Anomaly, Epileptic Encephalopathy, Intronic Variant +8