Similar Items: Hereditary Myopathy With Early Respiratory Failure Associated With an Incidental COL4A5 Variant: A Case Report
- Diaphragmatic Hernia in a Newborn With COL1A1-Associated Classical Ehlers–Danlos Syndrome
- The Development of a Fuzzy Logic System Using MATLAB for Early Detection of Hereditary Cancer in BRCA1/2 Negative Cases
- Bone Marrow Failure Associated With Short Telomeres and Digenic Variants of Uncertain Significance in Telomere Biology Genes
- A Novel Variant in the BICRA Gene, Expanding the Phenotype: A Case Report
- Clinical Heterogeneity of a TP53 Variant in a Consanguineous Omani Family: A Case Report Featuring a Homozygous Pathogenic Variant
- A Novel Case of NOTCH1 Variant and Nonimmune Hydrops Fetalis: A Case Report