A different approach to cystinosis: ultrasound, doppler, and shear wave elastography findings of thyroid gland

por Bako, Derya, Kılavuz, Sebile, Yasin Köksoy, Adem, Uzan Tatli, Zeynep, Beydogan, Engin
Publicado 2023

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

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

Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines

por Kuseyri Hübschmann, Oya, Horvath, Gabriella, Cortès-Saladelafont, Elisenda, Yıldız, Yılmaz, Mastrangelo, Mario, Pons, Roser, Friedman, Jennifer, Mercimek-Andrews, Saadet, Wong, Suet-Na, Pearson, Toni S., Zafeiriou, Dimitrios I., Kulhánek, Jan, Kurian, Manju A., López-Laso, Eduardo, Oppebøen, Mari, Kılavuz, Sebile, Wassenberg, Tessa, Goez, Helly, Scholl-Bürgi, Sabine, Porta, Francesco, Honzík, Tomáš, Santer, René, Burlina, Alberto, Sivri, H. Serap, Leuzzi, Vincenzo, Hoffmann, Georg F., Jeltsch, Kathrin, Hübschmann, Daniel, Garbade, Sven F., García-Cazorla, Angeles, Opladen, Thomas
Publicado 2021