-
Two Distinct Clinical Presentations of Primary Ciliary Dyskinesia (PCD): Diagnostic Utility of Whole-Exome Sequencing in a Genetically Heterogeneous Disorder
-
Exome Sequencing Analysis and Clinical Features of a Chinese Patient with 3M Syndrome and A Review of Literature
-
Stepwise Diagnostic Strategy Integrating Long-Read Sequencing for the Interpretation of Phenotype-Genotype Discordance in Dystrophinopathy
-
Partial Monosomy 21q Due to De Novo t(15;21)(q26.3;q22.11): A Case Report with Clinical and Molecular Findings
-
Detection of a Novel Homozygous PEX5 Stop-Loss Variant Associated with Zellweger Syndrome in a Highly Endogamic Family
-
Outcomes and Management of Pregnancies Screening Positive for Microdeletions 22q11.2, 15q11.2, 1p36, 4p, or 5p: A Retrospective Cohort Study
-
Chorionic Villus Sampling in the Era of Genomic Medicine: A Gateway to Early and Personalized Prenatal Diagnosis
-
Clinical Feasibility of Early First-Trimester Non-Invasive Prenatal Testing: Associations Between Gestational Age, Fetal Fraction, and No-Call Rates
-
The Prognostic Value of Integrating Copy Number Alteration Profiles in NPM1-Mutated Acute Myeloid Leukemia: An Exploratory Study
-
Hearing, Voice and Speech Disorders in 10-Year-Old-Boy with Facio-Scapulo-Humeral Dystrophy (FSHD) – Case Study
-
Shared Inflammatory Gene Programs between Immune Thrombocytopenia and CKD-Related Autoimmune Nephropathies: An Exploratory Transcriptomic and Bioinformatic Study
-
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
-
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
-
Familial 3M Syndrome – as an Example of Diagnostic Difficulties in Rare Genetic Syndromes
-
X-Linked Adrenoleukodystrophy in a Moroccan Patient: Genetic Diagnosis Leads to Presymptomatic Testing and Family Counseling
-
Microcephaly, Epilepsy, and Diabetes Syndrome 1: A Moroccan Case Report of Novel Compound Heterozygous IER3IP1 Mutations and Literature Review
-
Partial Trisomy of Chromosome 9 Inherited by Adjacent Segregation 2 of a Balanced Reciprocal Translocation in the Mother: Rare Mechanism in Chromosomal Abnormalities
-
Qualitative and Quantitative Aspects of Discrepancies between Various Methods for Microsatellite Instability Detection
-
Flow Cytometry Multiplex Bead Array Technology and Its Immunological Clinical Applications in Covid-19 Era
-
The Expression Profile of Wnt/β-Catenin Signalling Pathway Genes in Miscarriages
-
Intragenic TTN Deletions in a Single Family with Dilated Cardiomyopathy
-
Non-Invasive Prenatal Testing in the Kingdom of Saudi Arabia: Current Status of Adoption and Roadmap for the Future
-
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
