3-Hydroxyisobutyryl-CoA Hydrolase (HIBCH) deficiency cases diagnosed by only HIBCH gene analysis and novel pathogenic mutation by Nafiye Emel Çakar, Orhan Görükmez

Get full text

The role of genetic mutations in intrahepatic cholestasis of pregnancy by Gültekin Adanaş Aydın, Gülten Özgen, Orhan Görükmez

Get full text

Two patients with glutaric aciduria type 3: a novel mutation and brain magnetic resonance imaging findings by Sevil Dorum, Cengiz Havalı, Özlem Görükmez, Orhan Görükmez

Get full text

A Diagnostic Dilemma: Job Syndrome Mimics Abusive Trauma by Serbülent Kılıç, Arzu Oto, Orhan Görükmez, Ayşenur Metin

Get full text

May PEHO syndrome be a clinical entity associated with early onset encephalopathies? by Arzu Ekici, lyas Yilmaz, Orhan Görükmez, Cengiz Gökhan Orcan, Sevil Dorum

Get full text

Investigation of MEFV gene polymorphisms (G138G and A165A) in adult patients with familial Mediterranean fever by Mustafa Ferhat Öksuz, Mutlu Karkucak, Orhan Görukmez, Gökhan Ocakoğlu, Abdulmecit Yıldız, Mehmet Ture, Tahsin Yakut, Kamil Dilek

Get full text

NOTCH3 variants in patients with suspected CADASIL by Orhan Gorukmez, Ozlem Gorukmez, Ali Topak, Meral Seferoglu, Ali O Sivaci, Asuman Ali, Nermin Tepe, Sibel C Kabay, Ozlem Taskapilioglu

Get full text

Prenatal Diagnosis in a Family of TNFRSF11A (RANK) Gene Mutation Detection: A Case Report by Mutlu Karkucak, Demet Hafızoğlu, Şebnem Özemri Sağ, Sevgen Tanır Başaranoğlu, Orhan Görükmez, Şebnem Sara Kılıç, Tuna Gülten, Tahsin Yakut, Yalçın Kimya, Davut Gül

Get full text

THE EFFECT OF NIVOLUMAB IN PEDIATRIC MALIGNANT TUMORS: A SINGLE CENTER EXPERIENCE WITH EIGHT PATIENTS by Veysel GOK, Firdevs AYDIN, Alper OZCAN, Ebru YILMAZ, Ekrem UNAL, Musa KARAKUKCU, Türkan PATIROGLU, Mehmet Akif OZDEMIR, Filiz KARAMAN, Orhan GORUKMEZ, Ozlem GORUKMEZ, Atil BISGIN

Get full text