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The Association of ACSL1 and UCP2 3′ UTR Polymorphisms With the Clinicopathological Characteristics of Patients With Colorectal Cancer in Serbia
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Outcomes and Management of Pregnancies Screening Positive for Microdeletions 22q11.2, 15q11.2, 1p36, 4p, or 5p: A Retrospective Cohort Study
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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
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Microcephaly, Epilepsy, and Diabetes Syndrome 1: A Moroccan Case Report of Novel Compound Heterozygous IER3IP1 Mutations and Literature Review
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TNF-α rs1800629 Polymorphism in Vietnamese COPD Patients: Exploratory Evidence for Recessive Protective Association and Clinical Correlates
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Routine Excision, Rare Diagnosis: Solitary Neurofibroma Prompting NF1 Screening in an Adolescent
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Phenotypic And Molecular Characteristics of Three Additional Patients With HUWE1-Related X-Linked Intellectual Disability
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The Prognostic Value of Integrating Copy Number Alteration Profiles in NPM1-Mutated Acute Myeloid Leukemia: An Exploratory Study
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Genetic Polymorphisms of Transforming Growth Factor Receptors (TGF-βRI, TGF-βRII) and Risk Factors Associated with Keloid Scars in Burkina Faso: A Cross-Sectional Study
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Variable Expressivity in Type 2 Familial Partial Lipodystrophy Related to a Pathogenic LMNA Variant R482: Maternal Transmission to Non-Identical Twins
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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
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Detection of a Novel Homozygous PEX5 Stop-Loss Variant Associated with Zellweger Syndrome in a Highly Endogamic Family
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Hemizygous IL2RG Variants Impair IL-2-Induced STAT5 Phosphorylation and Transcriptional Activity Causing X-Linked Severe Combined Immunodeficiency
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Exome Sequencing Analysis and Clinical Features of a Chinese Patient with 3M Syndrome and A Review of Literature
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Familial 3M Syndrome – as an Example of Diagnostic Difficulties in Rare Genetic Syndromes
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X-Linked Adrenoleukodystrophy in a Moroccan Patient: Genetic Diagnosis Leads to Presymptomatic Testing and Family Counseling
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Partial Trisomy of Chromosome 9 Inherited by Adjacent Segregation 2 of a Balanced Reciprocal Translocation in the Mother: Rare Mechanism in Chromosomal Abnormalities
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Qualitative and Quantitative Aspects of Discrepancies between Various Methods for Microsatellite Instability Detection
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Flow Cytometry Multiplex Bead Array Technology and Its Immunological Clinical Applications in Covid-19 Era
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The Expression Profile of Wnt/β-Catenin Signalling Pathway Genes in Miscarriages
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Intragenic TTN Deletions in a Single Family with Dilated Cardiomyopathy
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Non-Invasive Prenatal Testing in the Kingdom of Saudi Arabia: Current Status of Adoption and Roadmap for the Future
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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
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Stepwise Diagnostic Strategy Integrating Long-Read Sequencing for the Interpretation of Phenotype-Genotype Discordance in Dystrophinopathy
