Channels The Association of ACSL1 and UCP2 3′ UTR Polymorphisms With the Clinicopathological Characteristics of Patients With Colorectal Cancer in Serbia
A Novel 4.2 kb deletion of the 3′UTR of RUNX2 Gene Causes Cleidocranial Dysplasia: Further Delineation of the Role of yhe 3′UTR
PON1 (Paraoxonase 1) Q192R Gene Polymorphism in North Macedonian Population with Confirmed Coronary Artery Disease
TNF-α rs1800629 Polymorphism in Vietnamese COPD Patients: Exploratory Evidence for Recessive Protective Association and Clinical Correlates
Phenotypic And Molecular Characteristics of Three Additional Patients With HUWE1-Related X-Linked Intellectual Disability
Microcephaly, Epilepsy, and Diabetes Syndrome 1: A Moroccan Case Report of Novel Compound Heterozygous IER3IP1 Mutations and Literature Review
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
Novel Mutation of NOTCH3 Gene in a Chinese Patient with CADASIL
Familial 3M Syndrome – as an Example of Diagnostic Difficulties in Rare Genetic Syndromes
Outcomes and Management of Pregnancies Screening Positive for Microdeletions 22q11.2, 15q11.2, 1p36, 4p, or 5p: A Retrospective Cohort Study
Exome Sequencing Analysis and Clinical Features of a Chinese Patient with 3M Syndrome and A Review of Literature
Routine Excision, Rare Diagnosis: Solitary Neurofibroma Prompting NF1 Screening in an Adolescent
Impact of Cholecystectomy on Gastric Mucosal c-MYC and h-TERT Expression; A Potential Link to Gastric Cancer Development
Partial Monosomy 21q Due to De Novo t(15;21)(q26.3;q22.11): A Case Report with Clinical and Molecular Findings
The Prognostic Value of Integrating Copy Number Alteration Profiles in NPM1-Mutated Acute Myeloid Leukemia: An Exploratory Study
Precise Reproductive Counseling Enabled by Long-Read Sequencing in a Case of a F8 Intron 1 Inversion and Duplication
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
Hemizygous IL2RG Variants Impair IL-2-Induced STAT5 Phosphorylation and Transcriptional Activity Causing X-Linked Severe Combined Immunodeficiency
Prenatal Ultrasound and Genetic Diagnosis of EFTUD2 Haploinsufficiency in Two Fetuses: A Case Series
Functional Validation of a Novel Deep Intronic IMPG2 Variant Causing Pseudoexon Activation in Retinitis Pigmentosa with Macular Involvement
Partial Trisomy of Chromosome 9 Inherited by Adjacent Segregation 2 of a Balanced Reciprocal Translocation in the Mother: Rare Mechanism in Chromosomal Abnormalities
Variable Expressivity in Type 2 Familial Partial Lipodystrophy Related to a Pathogenic LMNA Variant R482: Maternal Transmission to Non-Identical Twins
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
Clinical Feasibility of Early First-Trimester Non-Invasive Prenatal Testing: Associations Between Gestational Age, Fetal Fraction, and No-Call Rates
Two Distinct Clinical Presentations of Primary Ciliary Dyskinesia (PCD): Diagnostic Utility of Whole-Exome Sequencing in a Genetically Heterogeneous Disorder
