Identification of Genetic Alterations in Rapid Progressive Glioblastoma by Use of Whole Exome Sequencing

por Khan, Imran, Işık, Esra Büşra, Mahfooz, Sadaf, Khan, Asif M., Hatiboglu, Mustafa Aziz
Publicado 2023

A Neurofibromatosis Noonan Syndrome Patient Presenting with Abnormal External Genitalia

por Işık, Esra, Onay, Hüseyin, Atik, Tahir, Solmaz, Aslı Ece, Özen, Samim, Çoğulu, Özgür, Darcan, Şükran, Özkınay, Ferda
Publicado 2020

A New Cause of Obesity Syndrome Associated with a Mutation in the Carboxypeptidase Gene Detected in Three Siblings with Obesity, Intellectual Disability and Hypogonadotropic Hypogo...

por Durmaz, Asude, Aykut, Ayça, Atik, Tahir, Özen, Samim, Ayyıldız Emecen, Durdugül, Ata, Aysun, Işık, Esra, Gökşen, Damla, Çoğulu, Özgür, Özkınay, Ferda
Publicado 2021

Intracranial Bleeding in a Female Hemophilia Patient: Molecular Analysis of the Factor 8 Gene and Determination of a Novel Mutation

por Tatlı Güneş, Burçak, Önder Siviş, Zühal, Ataseven, Eda, Malbora, Barış, Türker, Meral, Belen, Fatma Burcu, Atabay, Berna, Atik, Tahir, Işık, Esra, Özkınay, Ferda
Publicado 2018

Gain-of-Function Mutations in STAT1: A Recently Defined Cause for Chronic Mucocutaneous Candidiasis Disease Mimicking Combined Immunodeficiencies

por Eren Akarcan, Sanem, Ulusoy Severcan, Ezgi, Edeer Karaca, Neslihan, Isik, Esra, Aksu, Guzide, Migaud, Mélanie, Evin Gurkan, Ferda, Azarsiz, Elif, Puel, Anne, Casanova, Jean-Laurent, Kutukculer, Necil
Publicado 2017

Factor 8 Gene Mutation Spectrum of 270 Patients with Hemophilia A: Identification of 36 Novel Mutations

por Atik, Tahir, Işık, Esra, Onay, Hüseyin, Akgün, Bilçağ, Shamsali, Moharram, Kavaklo, Kaan, Evim, Melike, Tüysüz, Gülen, Özbek, Namık Yaşar, Şahin, Fahri, Salcıoğlu, Zafer, Albayrak, Canan, Oymak, Yeşim, Ünal, Ekrem, Belen, Fatma Burcu, Yılmaz Keskin, Ebru, Balkan, Can, Baytan, Birol, Küpesiz, Alphan, Culha, Vildan, Tahtakesen Güçer, Tuba Nur, Güneş, Adalet Meral, Özkınay, Ferda
Publicado 2020