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    Chorionic Villus Sampling in the Era of Genomic Medicine: A Gateway to Early and Personalized Prenatal Diagnosis

    Published in Application of Clinical Genetics (2026)
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    A Novel Exon Duplication in the SACS Gene in Charlevoix-Saguenay Ataxia and a Summary of Polish Cases

    Published in Application of Clinical Genetics (2025)
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    Association of Y Chromosome Microdeletions with Reproductive Profiles in 2010 Infertile Male Patients in China

    Published in Application of Clinical Genetics (2025)
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    Partial Monosomy 21q Due to De Novo t(15;21)(q26.3;q22.11): A Case Report with Clinical and Molecular Findings

    Published in Application of Clinical Genetics (2025)
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    The Prognostic Value of Integrating Copy Number Alteration Profiles in NPM1-Mutated Acute Myeloid Leukemia: An Exploratory Study

    Published in Application of Clinical Genetics (2025)
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    Stepwise Diagnostic Strategy Integrating Long-Read Sequencing for the Interpretation of Phenotype-Genotype Discordance in Dystrophinopathy

    Published in Application of Clinical Genetics (2025)
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    The Masked Thalassemia: A Rare Case of a Patient with Normal HbA2 Levels, β-Thalassemia Pathogenic Variant (CD39 C>T), and a Novel δ-Globin Gene Deletion

    Published in Application of Clinical Genetics (2025)
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    Non-Invasive Prenatal Testing in the Kingdom of Saudi Arabia: Current Status of Adoption and Roadmap for the Future

    Published in Application of Clinical Genetics (2025)
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    Intragenic TTN Deletions in a Single Family with Dilated Cardiomyopathy

    Published in Application of Clinical Genetics (2025)
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    Familial 3M Syndrome – as an Example of Diagnostic Difficulties in Rare Genetic Syndromes

    Published in Application of Clinical Genetics (2025)
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    Exome Sequencing Analysis and Clinical Features of a Chinese Patient with 3M Syndrome and A Review of Literature

    Published in Application of Clinical Genetics (2025)
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    Hemizygous IL2RG Variants Impair IL-2-Induced STAT5 Phosphorylation and Transcriptional Activity Causing X-Linked Severe Combined Immunodeficiency

    Published in Application of Clinical Genetics (2025)
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    Detection of a Novel Homozygous PEX5 Stop-Loss Variant Associated with Zellweger Syndrome in a Highly Endogamic Family

    Published in Application of Clinical Genetics (2025)
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    Differential Responses to Targeted Therapies in Non-Small Cell Lung Cancer: A Comparative Analysis of Outcomes in Patients with Single EGFR Mutation and Concurrent Gene Alterations

    Published in Application of Clinical Genetics (2025)
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    Shared Inflammatory Gene Programs between Immune Thrombocytopenia and CKD-Related Autoimmune Nephropathies: An Exploratory Transcriptomic and Bioinformatic Study

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    PON1 (Paraoxonase 1) Q192R Gene Polymorphism in North Macedonian Population with Confirmed Coronary Artery Disease

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    Townes–Brocks Syndrome With Consistent Renal Hypodysplasia and Variable Extrarenal Features Across Three Generations of Serbian Family

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    Phenotypic And Molecular Characteristics of Three Additional Patients With HUWE1-Related X-Linked Intellectual Disability

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    Exploratory Analysis of Sex-Related Immune Gene Expression in Patients With Severe Periodontitis

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    Beyond Living Donor Kidney Transplantation in COL4 Nephropathy - A Real-World Clinical Dilemma in Light of Current Guidelines

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