Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease

by Berna Seker Yilmaz, Julien Baruteau, Ahad A. Rahim, Paul Gissen
Published 2020-07-01

Hiperkarotenemi

by Nefise Hilal Cansever Övetti, Halise Neslihan Önenli Mungan, Berna Şeker Yılmaz, Fatma Derya Bulut
Published 2018-06-01

Demographic, Phenotypic and Genotypic Features of Alkaptonuria Patients: A Single Centre Experience

by Sebile Kılavuz, Fatma Derya Bulut, Deniz Kör, Berna Şeker Yılmaz, Sibel Başaran, Tunay Sarpel, Neslihan Önenli Mungan
Published 2018-03-01

Mucopolysaccharidosis Type-II with Pathognomonic Skin Appearance: A Case with Pebbling Sign

by Ayşe Hitay İnan, Berna Şeker Yılmaz, Fatma Derya Bulut, Sebile Kılavuz, Deniz Kor, Mehmet Karakaş, Halise Neslihan Önenli Mungan
Published 2021-06-01

Fabry Disease: A Turkish Case with a Novel Mutation and Dermatological Manifestations

by Neslihan Onenli Mungan, Fatih Temiz, Berna seker Yilmaz, Mehmet Nuri Ozbek, Mehmet Karakas, Serdar Ceylaner, Ali Kemal Topaloglu, Bilgin Yuksel
Published 2015-03-01

A 6-Month-Old Boy with Reddish, Scaly Skin: Netherton Syndrome

by Fatma Derya Bulut, Deniz Kör, Berna Şeker Yılmaz, Mustafa Yılmaz, Derya Ufuk Altıntaş, Serdar Ceylaner, Sebile Kılavuz, Neslihan Önenli Mungan
Published 2018-03-01

Safety and efficacy of an engineered hepatotropic AAV gene therapy for ornithine transcarbamylase deficiency in cynomolgus monkeys

by Julien Baruteau, Sharon C. Cunningham, Berna Seker Yilmaz, Dany P. Perocheau, Simon Eaglestone, Derek Burke, Adrian J. Thrasher, Simon N. Waddington, Leszek Lisowski, Ian E. Alexander, Paul Gissen
Published 2021-12-01