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Serdar Ceylaner
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Journal Articles

Exploring Molecular and Phenotypic Characteristics of NAGLU Arg234Gly and Asp312Asn Variants

Subject Area:
Genetics
Hande Kaymakcalan Celebiler, Tanyeri Barak, Devendra K. Rai, Ilyas Kaya, Seda Erbilgin, Merve Cikili Uytun, Didem Oztop, Hakan Gumus, Huseyin Per, Serdar Ceylaner, Icten Bozkurt, Maria I. Kontaridis, Kaya Bilguvar, Nilay Akhun, Ayse Kilincaslan, Ahmet Okay Caglayan, E. Zeynep Erson-Omay, Murat Gunel, A. Gulhan Ercan-Sencicek
Journal: Molecular Syndromology
Mol Syndromol 1–12.
https://doi.org/10.1159/000542367
Published Online: 06 November 2024
View articletitled, Exploring Molecular and Phenotypic Characteristics of NAGLU Arg234Gly and Asp312Asn Variants
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Journal Articles

Phenotypic Delineation of Combined Oxidative Phosphorylation Deficiency-12: Clinical Features of 2 Patients

Subject Area:
Genetics
Meral Bahar Ister, Muge Cinar, Serdar Ceylaner, Ozlem Unal Uzun
Journal: Molecular Syndromology
Mol Syndromol (2025) 16 (2): 180–186.
https://doi.org/10.1159/000541501
Published Online: 21 October 2024
View articletitled, Phenotypic Delineation of Combined Oxidative Phosphorylation Deficiency-12: Clinical Features of 2 Patients
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Journal Articles

Mitochondrial DNA Depletion Syndromes Gene Panel versus Clinical Exome Sequencing in Children with Suspected Mitochondrial Hepatopathies

Subject Area:
Genetics
Neslihan Doğulu, Engin Köse, Serdar Ceylaner, Çiğdem Seher Kasapkara, Ayşe Ergul Bozaci, Ummuhan Oncul, Fatma Tuba Eminoğlu
Journal: Molecular Syndromology
Mol Syndromol (2024) 15 (6): 450–463.
https://doi.org/10.1159/000539034
Published Online: 17 June 2024
View articletitled, Mitochondrial DNA Depletion Syndromes Gene Panel versus Clinical Exome Sequencing in Children with Suspected Mitochondrial Hepatopathies
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Journal Articles

Is 5-Oxoprolinase Deficiency More than Just a Benign Condition?

Subject Area:
Genetics
Çiğdem Seher Kasapkara, Oya Kıreker Köylü, Aysenur Engin Erdal, Burak Yürek, Nesrin Ceylan, Serdar Ceylaner
Journal: Molecular Syndromology
Mol Syndromol (2024) 15 (4): 303–310.
https://doi.org/10.1159/000536295
Published Online: 23 February 2024
View articletitled, Is 5-Oxoprolinase Deficiency More than Just a Benign Condition?
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Journal Articles

Distinct Autism Spectrum Disorder Phenotype and Hand-Flapping Stereotypes: Two Siblings with Novel Homozygous Mutation in TRAPPC9 Gene and Literature Review

Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
Hilmi Bolat, Gül Ünsel-Bolat, Hatice Derin, Aşkın Şen, Serdar Ceylaner
Journal: Molecular Syndromology
Mol Syndromol (2022) 13 (4): 263–269.
https://doi.org/10.1159/000522041
Published Online: 09 March 2022
View articletitled, Distinct Autism Spectrum Disorder Phenotype and Hand-Flapping Stereotypes: Two Siblings with Novel Homozygous Mutation in TRAPPC9 Gene and Literature Review
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Journal Articles

An Atypical Presentation of Mevalonate Kinase Deficiency in Response to Colchicine Treatment

Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
Merve Koç Yekedüz, Neslihan Doğulu, Ümmühan Öncül, Engin Köse, Serdar Ceylaner, Fatma Tuba Eminoğlu
Journal: Molecular Syndromology
Mol Syndromol (2022) 13 (2): 146–151.
https://doi.org/10.1159/000518825
Published Online: 25 October 2021
View articletitled, An Atypical Presentation of Mevalonate Kinase Deficiency in Response to Colchicine Treatment
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Journal Articles

Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome Resembling Juvenile Idiopathic Arthritis: A Single-Center Experience from Southern Turkey

Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
Rabia Miray Kisla Ekinci, Sibel Balci, Haldun Dogan, Serdar Ceylaner, Celal Varan, Sevcan Erdem, Fatma Coban, Atil Bisgin
Journal: Molecular Syndromology
Mol Syndromol (2021) 12 (2): 112–117.
https://doi.org/10.1159/000513111
Published Online: 01 February 2021
View articletitled, Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome Resembling Juvenile Idiopathic Arthritis: A Single-Center Experience from Southern Turkey
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Journal Articles

Two Novel Variants and One Previously Reported Variant in the Insulin Receptor Gene in Two Cases with Severe Insulin Resistance Syndrome

Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
Aydilek Dagdeviren Cakir, Said Saidov, Hande Turan, Serdar Ceylaner, Yavuz Özer, Tufan Kutlu, Oya Ercan, Olcay Evliyaoglu
Journal: Molecular Syndromology
Mol Syndromol (2020) 11 (2): 90–96.
https://doi.org/10.1159/000506722
Published Online: 18 March 2020
View articletitled, Two Novel Variants and One Previously Reported Variant in the Insulin Receptor Gene in Two Cases with Severe Insulin Resistance Syndrome
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