Homozygous Mutation in the Insulin Receptor Gene Associated with Mild Type A Insulin Resistance Syndrome: A Case Report

by Bülent Hacihamdioğlu, Elif Gülşah Baş, Kenan Delil
Published 2021-03-01

Genetic and Clinical Characteristics of Patients with Vitamin D Dependent Rickets Type 1A

by Fatma Dursun, Gamze Özgürhan, Heves Kırmızıbekmez, Ece Keskin, Bülent Hacıhamdioğlu
Published 2019-03-01

A Case of the Perinatal Form Hypophosphatasia Caused by a Novel Large Duplication of the ALPL Gene and Report of One Year Follow-up with Enzyme Replacement Therapy

by Bülent Hacıhamdioğlu, Gamze Özgürhan, Catarina Pereira, Emre Tepeli, Gülşen Acar, Serdar Cömert
Published 2019-09-01

Escherichia coli Meningitis after Rotavirus Gastroenteritis in an Infant

by Gamze Ozgurhan, Oznur Vermezoglu, Didem Ocal Topcu, Adem Karbuz, Aysel Vehapoglu, Bulent Hacihamdioglu
Published 2016-01-01

Worldwide view of nephropathic cystinosis: results from a survey from 30 countries

by Aurélia Bertholet-Thomas, Julien Berthiller, Velibor Tasic, Behrouz Kassai, Hasan Otukesh, Marcella Greco, Jochen Ehrich, Rejane de Paula Bernardes, Georges Deschênes, Sally-Ann Hulton, Michel Fischbach, Kenza Soulami, Bassam Saeed, Ehsan Valavi, Carlos Jose Cobenas, Bülent Hacihamdioglu, Gabrielle Weiler, Pierre Cochat, Justine Bacchetta
Published 2017-07-01