Academician profile · PROFESÖR
SERDAR CEYLANER
- Ana Dal Sağlık Bilimleri Temel Alanı
- Yan Dal Tıbbi Genetik
- TIP FAKÜLTESİ
- DAHİLİ TIP BİLİMLERİ BÖLÜMÜ
Scopus (SJR)
Q1
22
Q2
48
Q3
20
Q4
2
WoS (JCR)
Q1
10
Q2
15
Q3
29
Q4
38
TR Index
19
articles
Articles
- 2023 Non-Metastatic Ewing's Sarcoma Family of Tumors of Bone in Adolescents and Adults
- 2022 Vitamin D receptor gene polymorphisms in pediatric patients with leukemia-lymphoma: Does it have an impact on malignancy?
- 2021 Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis.
- 2020 Mitochondrial membrane protein–associated neurodegeneration: A case series of six children
- 2019 Association of vitamin D receptor gene polymorphisms with osteosarcoma risk and prognosis
- 2018 Twenty-seven mutations with three novel pathologenic variants causing biotinidase deficiency: a report of 203 patients from the southeastern part of Turkey
- 2018 Siblings with Ethylmalonic Encephalopathy: Case Report
- 2018 A 6-Month-Old Boy with Reddish, Scaly Skin: Netherton Syndrome
- 2018 “Double Hit” Homozygous Mutations for Two Different Rare Inborn Errors of Metabolism: A Burden for Countries with High Prevalences of Consangineous Marriages
- 2018 Investigation of MKRN3 Mutation in Patients with Familial Central Precocious Puberty
- 2018 Identification of a New de Novo Mutation Underlying Regressive Episodic Ataxia Type I
- 2017 A case of Riley Ruvalcaba syndrome with a novel PTEN mutation accompanied by diffuse testicular microlithiasis and precocious puberty
- 2017 A novel mutation in the desmoplakin gene in two female siblings with a rare form of dilated cardiomyopathy: Carvajal syndrome
- 2017 Improved metabolic control in tetrahydrobiopterin (BH4), responsive phenylketonuria with sapropterin administered in two divided doses vs. a single daily dose
- 2017 A novel frameshift mutation of malonyl‐CoA decarboxylase deficiency: clinical signs and therapy response of a late‐diagnosed case
- 2017 Lethal neonatal rigidity and multifocal seizure syndrome with a new mutation in BRAT1
- 2017 Impaired glucose tolerance in fanconi-bickel syndrome: eight patients with two novel mutations
- 2017 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
- 2017 Microcephaly and developmental delay caused by short-chain acyl-coa dehydrogenase deficiency
- 2017 The variable clinical phenotype of three patients with hepatic glycogen synthase deficiency