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Journal Articles

C.655C>T Variant of Sepiapterin Reductase Deficiency: Genetic and Bioinformatic Analysis

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Subject Area:
Genetics
Hosein Eslamiyeh, Fatemeh Sefid, Farzaneh Iravani
Journal: Molecular Syndromology
Mol Syndromol 1–7.
https://doi.org/10.1159/000542176
Published Online: 29 November 2024
View articletitled, C.655C>T Variant of Sepiapterin Reductase Deficiency: Genetic and Bioinformatic Analysis
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Journal Articles

Association of MicroRNA-146a-5p Polymorphism with Cognitive Impairment in Adolescents with Depressive Disorder

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Subject Area:
Genetics
Chunping Xie, Qingting Hu, Chunhu Zhang, Kuancai Deng
Journal: Molecular Syndromology
Mol Syndromol (2025) 16 (3): 216–222.
https://doi.org/10.1159/000542064
Published Online: 29 November 2024
View articletitled, Association of MicroRNA-146a-5p Polymorphism with Cognitive Impairment in Adolescents with Depressive Disorder
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Journal Articles

Evaluation of Cardiomyopathy-Related Target Genes by Next-Generation Sequencing Method and Investigation of the Phenotype-Genotype Relationship

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Subject Area:
Genetics
Hazal Sezginer Guler, Drenushe Zhuri, Sinem Yalcintepe, Servet Altay, Murat Deveci, Selma Demir, Hanefi Yekta Gurlertop, Engin Atli, Emine İkbal Atli, Hakan Gurkan
Journal: Molecular Syndromology
Mol Syndromol (2025) 16 (3): 235–246.
https://doi.org/10.1159/000542097
Published Online: 26 November 2024
View articletitled, Evaluation of Cardiomyopathy-Related Target Genes by Next-Generation Sequencing Method and Investigation of the Phenotype-Genotype Relationship
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Journal Articles

Genotype-Phenotype Correlation in Lipoid Proteinosis: 15 Cases from Turkiye

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Subject Area:
Genetics
Firdevs Dinçsoy Bir, Zehra Oya Uyguner, Birsen Karaman, Can Baykal, Nesimi Büyükbabani, Beyhan Tüysüz, Asuman Gedikbaşı, Bülent Uyanık, Güven Toksoy, Bülent Kara, Hülya Kayserili
Journal: Molecular Syndromology
Mol Syndromol 1–8.
https://doi.org/10.1159/000542675
Published Online: 19 November 2024
View articletitled, Genotype-Phenotype Correlation in Lipoid Proteinosis: 15 Cases from Turkiye
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Journal Articles

Next-Generation Sequencing in Diagnosis of Monogenic Cholestatic Liver Disorders: A Single-Center Experience

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Subject Area:
Genetics
Engin Demir, Fatma Derya Bulut, Berrak Bilginer-Gürbüz, Mehmet Ercüment Döğen, Ali İşlek, Serdar Mermer, Burak Başer, Gizem Ürel-Demir
Journal: Molecular Syndromology
Mol Syndromol 1–7.
https://doi.org/10.1159/000542594
Published Online: 13 November 2024
View articletitled, Next-Generation Sequencing in Diagnosis of Monogenic Cholestatic Liver Disorders: A Single-Center Experience
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Journal Articles

Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome Caused by Truncating Mutations in the Prg4 Gene: Case Series and Literature Review

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Subject Area:
Genetics
Hatice Ağır, İsmihan Sunar, Mehmet Burak Mutlu
Journal: Molecular Syndromology
Mol Syndromol (2025) 16 (3): 223–234.
https://doi.org/10.1159/000542596
Published Online: 13 November 2024
View articletitled, Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome Caused by Truncating Mutations in the Prg4 Gene: Case Series and Literature Review
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Journal Articles

Cerebrotendinous Xanthomatosis Disease Prevalence in Patients with Autism Spectrum Disorder: A Prospective Observational Study

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Subject Area:
Genetics
Mehmet Karadag, Mehmet Ibrahim Turan, Canan Celebi, Tahir Caglar
Journal: Molecular Syndromology
Mol Syndromol 1–12.
https://doi.org/10.1159/000542453
Published Online: 11 November 2024
View articletitled, Cerebrotendinous Xanthomatosis Disease Prevalence in Patients with Autism Spectrum Disorder: A Prospective Observational Study
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Journal Articles

Exploring Molecular and Phenotypic Characteristics of NAGLU Arg234Gly and Asp312Asn Variants

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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

A Novel Loss of Function Variant in HCN1 Gene Underlies Early Infantile Epileptic Encephalopathy 24 [EIEE24]

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Subject Area:
Genetics
M. Mujahid, Ahmed Waqas, Ibrahim A. Almazni, Gohar Zaman, Qamre Alam, Thamir M. Eid, Mohammad A. Alanazi, Abdullah Hamadi, Tayyaba Afsar, Suhail Razak, Muhammad Umair
Journal: Molecular Syndromology
Mol Syndromol (2025) 16 (2): 152–164.
https://doi.org/10.1159/000541117
Published Online: 09 October 2024
View articletitled, A Novel Loss of Function Variant in HCN1 Gene Underlies Early Infantile Epileptic Encephalopathy 24 [EIEE24]
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Journal Articles

Distribution of Variants and Identification of Novel Variants in Patients with Obesity Using Next-Generation Sequencing in Genes Associated with Obesity: A Single-Center Experience in Turkey

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Subject Area:
Genetics
Ozlem Anlas, Ozge Ozalp, Suleyman Cetinkunar
Journal: Molecular Syndromology
Mol Syndromol (2025) 16 (3): 208–215.
https://doi.org/10.1159/000541313
Published Online: 04 October 2024
View articletitled, Distribution of Variants and Identification of Novel Variants in Patients with Obesity Using Next-Generation Sequencing in Genes Associated with Obesity: A Single-Center Experience in Turkey
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Journal Articles

Clinical and Radiological Profile of Nine Patients with Metachromatic Leukodystrophy

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Subject Area:
Genetics
Çiğdem Seher Kasapkara, Burcu Civelek Ürey, Berrak Bilginer Gürbüz, Aynur Küçükçongar Yavaş, Avni Merter Keçeli, Ümmühan Öncül, Mehmet Gündüz, Gürsel Biberoğlu, Ayşegül Neşe Çıtak Kurt, Esra Gürkaş, Esra Kılıç, Gülay Güleç Ceylan, Namık Yaşar Özbek
Journal: Molecular Syndromology
Mol Syndromol (2025) 16 (2): 138–151.
https://doi.org/10.1159/000540925
Published Online: 18 September 2024
View articletitled, Clinical and Radiological Profile of Nine Patients with Metachromatic Leukodystrophy
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Journal Articles

Influence of the IDOL Gene Variants on Low-Density Lipoprotein Cholesterol Levels in Turkish Patients with Familial Hypercholesterolemia

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Subject Area:
Genetics
Fahrettin Duymus, Nadir Kocak, Ebru Marzioğlu Özdemir, Deniz Esin, Muslu Kazim Körez, Tülün Cora
Journal: Molecular Syndromology
Mol Syndromol (2025) 16 (2): 128–137.
https://doi.org/10.1159/000540898
Published Online: 30 August 2024
View articletitled, Influence of the IDOL Gene Variants on Low-Density Lipoprotein Cholesterol Levels in Turkish Patients with Familial Hypercholesterolemia
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Journal Articles

Exploring the Genetic Etiology of Pediatric Epilepsy: Insights from Targeted Next-Generation Sequence Analysis

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Subject Area:
Genetics
Ozden Ozturk, Murat Ozturk, Kubra Ates, Zeynep Esener, Naile Nisa Erguven, Bilge Ozgor, Serdal Gungor, Ahmet Sigirci, Ibrahim Tekedereli
Journal: Molecular Syndromology
Mol Syndromol (2025) 16 (2): 115–127.
https://doi.org/10.1159/000540762
Published Online: 29 August 2024
View articletitled, Exploring the Genetic Etiology of Pediatric Epilepsy: Insights from Targeted Next-Generation Sequence Analysis
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Journal Articles

A Unique Derivative Chromosome 4 with a Predominant 4p16.3 Microduplication Phenotype and a Literature Review

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Subject Area:
Genetics
Mona K. Mekkawy, Alaa K. Kamel, Khaled M. Refaat, Abdelrahman Madian, Mahmoud Issa, Sally G. Abd Allah, Ola M. Eid, Maha S. Zaki, Amal M. Mohamed
Journal: Molecular Syndromology
Mol Syndromol (2025) 16 (1): 11–28.
https://doi.org/10.1159/000540454
Published Online: 28 August 2024
View articletitled, A Unique Derivative Chromosome 4 with a Predominant 4p16.3 Microduplication Phenotype and a Literature Review
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Journal Articles

Expression of Autophagy-Related Proteins in Microlissencephaly Associated with a Novel Variant in the WDR81 Gene

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Subject Area:
Genetics
Hatice Yelda Yalçın, Ufkay Karabay, Tayfun Cinleti, Pelin Teke Kısa, Mehtap Yüksel Eğrilmez, Akif Ayaz, Nihal Aydın
Journal: Molecular Syndromology
Mol Syndromol (2025) 16 (1): 1–10.
https://doi.org/10.1159/000540339
Published Online: 21 August 2024
View articletitled, Expression of Autophagy-Related Proteins in Microlissencephaly Associated with a Novel Variant in the WDR81 Gene
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Journal Articles

A Novel Variant in the Cyto-Tail of SMO Gene Underlying Isolated Postaxial Polydactyly

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Subject Area:
Genetics
Muhammad Javed Khan, A. Abdullah, Hammal Khan, Atteaya Zaman, Sohail Ahmed, Palwasha Iqbal, Muhammad Bilal, Kifayat Ullah, Muhammad Sharif Hasni, Imran Ullah, Emily Kathryn Mis, Saquib Ali Lakhani, Wasim Ahmad
Journal: Molecular Syndromology
Mol Syndromol (2024) 15 (6): 443–449.
https://doi.org/10.1159/000539279
Published Online: 20 June 2024
View articletitled, A Novel Variant in the Cyto-Tail of SMO Gene Underlying Isolated Postaxial Polydactyly
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Journal Articles

Screening for TSEN54 Variants in Egyptian Patients with Pontocerebellar Malformations

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Subject Area:
Genetics
Bayoumi A. Emam, Mohamed S. Abdel-Hamid, Maha Eid, Marian Girgis, Omar A. Ragab, Maha S. Zaki, Hassan El-Kiki, Sawsan Abdel-Hady, Ghada M.H. Abdel-Salam
Journal: Molecular Syndromology
Mol Syndromol (2024) 15 (6): 474–480.
https://doi.org/10.1159/000539364
Published Online: 20 June 2024
View articletitled, Screening for TSEN54 Variants in Egyptian Patients with Pontocerebellar Malformations
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Journal Articles

Investigation of Genetic Changes in Three Families with Bipolar Disease

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Subject Area:
Genetics
Esra Çolak-Geniş, Müjdan Özdemir Erdoğan, Fethi Sırrı Çam, Ömer Aydemir, Funda Akin, Hamide Betül Gerik-Celebi, Mustafa Solak
Journal: Molecular Syndromology
Mol Syndromol (2024) 15 (6): 464–473.
https://doi.org/10.1159/000539115
Published Online: 14 June 2024
View articletitled, Investigation of Genetic Changes in Three Families with Bipolar Disease
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Journal Articles

Biallelic Deletion of PEX26 Exon 4 in a Boy with Phenotypic Features of both Zellweger Syndrome and Infantile Refsum Disease

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Subject Area:
Genetics
Burhanettin Yalçınkaya, Kübra Adanur Sağlam, Kerem Terali, Emine Tekin, Hava Taslak, Ayberk Türkyılmaz
Journal: Molecular Syndromology
Mol Syndromol (2024) 15 (5): 380–388.
https://doi.org/10.1159/000538676
Published Online: 30 April 2024
View articletitled, Biallelic Deletion of PEX26 Exon 4 in a Boy with Phenotypic Features of both Zellweger Syndrome and Infantile Refsum Disease
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Journal Articles

Determination of the Frequency of BCL-2 Polymorphisms (c.-717C>A and c.*2364G>A) and LIF Polymorphism (c.*1414T>G) in Patients with Congenital Anomalies of the Kidney and Urinary Tract

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Subject Area:
Genetics
Tugce Oztepe, Feride Iffet Sahin, Aysun Caltik Yilmaz, Esra Baskin, Mehmet Haberal, Yunus Kasim Terzi
Journal: Molecular Syndromology
Mol Syndromol (2024) 15 (5): 371–379.
https://doi.org/10.1159/000538653
Published Online: 24 April 2024
View articletitled, Determination of the Frequency of BCL-2 Polymorphisms (c.-717C>A and c.*2364G>A) and LIF Polymorphism (c.*1414T>G) in Patients with Congenital Anomalies of the Kidney and Urinary Tract
Open the PDF for Determination of the Frequency of BCL-2 Polymorphisms (c.-717C>A and c.*2364G>A) and LIF Polymorphism (c.*1414T>G) in Patients with Congenital Anomalies of the Kidney and Urinary Tract in another window