Mutations Within the Transcription Factor PROP1 in a Cohort of Turkish Patients with Combined Pituitary Hormone Deficiency

por Bulut, Fatma Derya, Özdemir Dilek, Semine, Kotan, Damla, Mengen, Eda, Gürbüz, Fatih, Yüksel, Bilgin
Publicado 2020

Clinical and molecular findings in 37 Turkish patients with isolated methylmalonic acidemia

por ŞEKER YILMAZ, Berna, KÖR, Deniz, BULUT, Fatma Derya, KILAVUZ, Sebile, CEYLANER, Serdar, ÖNENLİ MUNGAN, Halise Neslihan
Publicado 2021

Clinical spectrum of early onset “Mediterranean” (homozygous p.P131L mutation) mitochondrial neurogastrointestinal encephalomyopathy

por Kalkan Uçar, Sema, Yazıcı, Havva, Canda, Ebru, Er, Esra, Bulut, Fatma Derya, Eraslan, Cenk, Onay, Hüseyin, Bax, Bridget Elizabeth, Çoker, Mahmut
Publicado 2022

Morquio A syndrome and effect of enzyme replacement therapy in different age groups of Turkish patients: a case series

por Kılavuz, Sebile, Basaran, Sibel, Kor, Deniz, Bulut, Fatma Derya, Erdem, Sevcan, Ballı, Hüseyin Tuğsan, Dağkıran, Muhammed, Bisgin, Atil, Mungan, Halise Neslihan Önenli
Publicado 2021