TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family

Yazar: Maraş-Genç, Hülya, Uyur-Yalçın, Emek, Rosti, Rasim Özgür, Gleeson, Joseph G., Kara, Bülent
Yayımlandı Turk J Pediatr (2015)

Head Circumference Charts for Turkish Children Aged Five to Eighteen Years

Yazar: KARA, Bülent, ETİLER, Nilay, AYDOĞAN UNCUOĞLU, Ayşen, MARAŞ GENÇ, Hülya, ULAK GÜMÜŞLÜ, Esen, GÖKÇAY, Gülbin, FURMAN, Andrezej
Yayımlandı Noro Psikiyatr Ars (2016)

Severe neurodegenerative disease in brothers with homozygous mutation in POLR1A

Yazar: Kara, Bülent, Köroğlu, Çiğdem, Peltonen, Karita, Steinberg, Ruchama C, Maraş Genç, Hülya, Hölttä-Vuori, Maarit, Güven, Ayşe, Kanerva, Kristiina, Kotil, Tuğba, Solakoğlu, Seyhun, Zhou, You, Olkkonen, Vesa M, Ikonen, Elina, Laiho, Marikki, Tolun, Aslıhan
Yayımlandı Eur J Hum Genet (2017)