A Novel Homozygous CYP19A1 Gene Mutation: Aromatase Deficiency Mimicking Congenital Adrenal Hyperplasia in an Infant without Obvious Maternal Virilisation

por Dursun, Fatma, Ceylaner, Serdar
Publicado 2019

Stimulus-induced myoclonus treated effectively with clonazepam in genetically confirmed Coffin–Lowry syndrome()

por Arslan, Elif Acar, Ceylaner, Serdar, Turanlı, Güzide
Publicado 2014

Hb Andrew-Minneapolis Variant in a Turkish Family

por Sümter, Hamza, Mızrak, Soycan, Ceylaner, Serdar, Canatan, Duran
Publicado 2023

Central Precocious Puberty in an Infant with Sotos Syndrome and Response to Treatment

por Kontbay, Tuğba, Şıklar, Zeynep, Ceylaner, Serdar, Berberoğlu, Merih
Publicado 2022

Merosin-negative congenital muscular dystrophy: Report of five cases

por Incecik, Faruk, Herguner, Ozlem M., Ceylaner, Serdar, Altunbasak, Sakir
Publicado 2015

Crouzonodermoskeletal Syndrome with Hypoplasia of Corpus Callosum and Inferior Vermis

por Gürbüz, Fatih, Ceylaner, Serdar, Topaloğlu, Ali Kemal, Yüksel, Bilgin
Publicado 2016

Mitochondrial membrane protein-associated neurodegeneration in a Turkish patient

por Incecik, Faruk, Hergüner, Ozlem M., Besen, Seyda, Ceylaner, Serdar
Publicado 2016

Lethal neonatal rigidity and multifocal seizure syndrome with a new mutation in BRAT1

por Celik, Yalcin, Okuyaz, Cetin, Arslankoylu, Ali Ertug, Ceylaner, Serdar
Publicado 2017

Hypomyelination and Congenital Cataract: Three Siblings Presentation

por Karalok, Zeynep Selen, Gurkasb, Esra, Aydinc, Kursad, Ceylaner, Serdar
Publicado 2020

A Case of Common Variable Immunodeficiency with CREBP Gene Mutation without Rubinstein Taybi Syndrome Features

por Musabak, Ugur, Ceylaner, Serdar, Erdogan, Tuba, Ayva, Ebru Sebnem
Publicado 2022

Compound Heterozygous Variants in FAM111A Cause Autosomal Recessive Kenny-Caffey Syndrome Type 2

por Eren, Erdal, Tezcan Ünlü, Havva, Ceylaner, Serdar, Tarım, Ömer
Publicado 2023

Delayed Diagnosis of a 17-Hydroxylase/17,20-Lyase Deficient Patient Presenting as a 46,XY Female: A Low Normal Potassium Level Can Be an Alerting Diagnostic Sign

por Çamtosun, Emine, Şıklar, Zeynep, Ceylaner, Serdar, Kocaay, Pınar, Berberoğlu, Merih
Publicado 2017

A novel frameshift mutation of malonyl‐CoA decarboxylase deficiency: clinical signs and therapy response of a late‐diagnosed case

por Ersoy, Melike, Akyol, Mehmet Bedir, Ceylaner, Serdar, Çakır Biçer, Nihan
Publicado 2017

Importance of DNA Sequencing for Abnormal Hemoglobins Detected by HPLC Screening

por Canatan, Duran, Çim, Abdullah, Delibaş, Serpil, Altunsoy, Emel, Ceylaner, Serdar
Publicado 2020

A novel insight into the pathophysiology of autoimmune hepatitis: An immune activator mutation in the FLT3 receptor

por Yuksel, Muhammed, Armutlu, Ayse, Nazmi, Farinaz, Ceylaner, Serdar, Arikan, Cigdem
Publicado 2021

A novel mutation in the desmoplakin gene in two female siblings with a rare form of dilated cardiomyopathy: Carvajal syndrome

por Ramoğlu, Mehmet G., Uçar, Tayfun, Ceylaner, Serdar, Atalay, Semra, Tutar, Ercan
Publicado 2017

Association of vitamin D receptor gene polymorphisms with osteosarcoma risk and prognosis

por Kurucu, Nilgun, Şahin, Gurses, Sarı, Neriman, Ceylaner, Serdar, İlhan, İnci Ergurhan
Publicado 2018

Primary Adrenal Insufficiency Caused by a Novel Mutation in DAX1 Gene

por Evliyaoğlu, Olcay, Dokurel, İpek, Bucak, Feride, Özcabı, Bahar, Ercan, Oya, Ceylaner, Serdar
Publicado 2013

Coexistence of Kabuki Syndrome and Autoimmune Thyroiditis

por Gürbüz, Fatih, Özalp Yüreğir, Özge, Ceylaner, Serdar, Topaloğlu, Ali Kemal, Yüksel, Bilgin
Publicado 2016

A rare case of prolidase deficiency with situs inversus totalis, identified by a novel mutation in the PEPD gene

por Kiratli Nalbant, Esra, Karaosmanoglu, Nermin, Kutlu, Omer, Ceylaner, Serdar, Eksioglu, Hatice Meral
Publicado 2019