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April 2025
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ISSN 1661-8769
EISSN 1661-8777
In this Issue
Molecular Syndromology 2025, Vol. 16, No. 2
Original Article
Classification of Brain Magnetic Resonance Imaging Abnormalities and Spectrum of Neurological Findings in a Cohort with Copy Number Variation-Related Disorders
Subject Area:
Genetics
Ayberk Türkyılmaz; Safiye Güneş Sağer; Emine Caliskan; Merve Akçay; Oğuzhan Demir; Baran Baytar; Yasemin Akın
Mol Syndromol (2025) 16 (2): 99–114.
https://doi.org/10.1159/000540599
Exploring the Genetic Etiology of Pediatric Epilepsy: Insights from Targeted Next-Generation Sequence Analysis
Subject Area:
Genetics
Ozden Ozturk; Murat Ozturk; Kubra Ates; Zeynep Esener; Naile Nisa Erguven; Bilge Ozgor; Serdal Gungor; Ahmet Sigirci; Ibrahim Tekedereli
Mol Syndromol (2025) 16 (2): 115–127.
https://doi.org/10.1159/000540762
Influence of the IDOL Gene Variants on Low-Density Lipoprotein Cholesterol Levels in Turkish Patients with Familial Hypercholesterolemia
Subject Area:
Genetics
Mol Syndromol (2025) 16 (2): 128–137.
https://doi.org/10.1159/000540898
Clinical and Radiological Profile of Nine Patients with Metachromatic Leukodystrophy
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
Mol Syndromol (2025) 16 (2): 138–151.
https://doi.org/10.1159/000540925
A Novel Loss of Function Variant in HCN1 Gene Underlies Early Infantile Epileptic Encephalopathy 24 [EIEE24]
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
Mol Syndromol (2025) 16 (2): 152–164.
https://doi.org/10.1159/000541117
Novel Insights from Clinical Practice
Plastic Bronchitis in Noonan Syndrome: Further Evidence Suggesting a Higher Risk of Lymphatic Abnormalities in Individuals Harboring Variants in PTPN11 Residue p.Phe285
Subject Area:
Genetics
Lucas Vieira Lacerda Pires; Eduardo Da Cás; Letícia Cole de Melo; Cleyde Mirian Aversa Nakaie; Vera Dermachi Aiello; Guilherme Lopes Yamamoto; Rachel Sayuri Honjo; Chong Ae Kim; Débora Romeo Bertola
Mol Syndromol (2025) 16 (2): 165–170.
https://doi.org/10.1159/000540570
Discovery of a Novel CUL3 Variant: Unveiling Epilepsy and Newly Associated Dysmorphic Traits in a Turkish Patient
Subject Area:
Genetics
Mol Syndromol (2025) 16 (2): 171–179.
https://doi.org/10.1159/000540923
Phenotypic Delineation of Combined Oxidative Phosphorylation Deficiency-12: Clinical Features of 2 Patients
Subject Area:
Genetics
Mol Syndromol (2025) 16 (2): 180–186.
https://doi.org/10.1159/000541501
A New Case with Weaver Syndrome: Delineating Natural Course and Growth Pattern, Further Clarifying Clinical Phenotype
Subject Area:
Genetics
Mol Syndromol (2025) 16 (2): 187–193.
https://doi.org/10.1159/000541476
Coexistence of Rare Genetic Disorders in a Consanguineous Family: Case Study of KLHL24-Related Hypertrophic Cardiomyopathy and Char Syndrome
Subject Area:
Genetics
Bianca Domit Werner Linnenkamp; Lucas Vieira Lacerda Pires; Bruno de Oliveira Stephan; Kelvin Henrique Vilalva; Mariana Lombardi Peres de Carvalho; Layara Fernanda Vicente Pereira Lipari; Fabio Fernandes; Jose Eduardo Krieger
Mol Syndromol (2025) 16 (2): 194–200.
https://doi.org/10.1159/000540786
