61Long-term efficacy and safety of pegunigalsidase alfa administered every 4 weeks in adults with Fabry disease: results from up to 5 years of the BRIGHT F51 phase III, open-label extension study2026 · DOAJ
62Comprehensive whole genome sequencing-based pharmacogenomics profiling using a personalized genome interpretation workflow2026 · DOAJ
63Integration of Machine Learning-Based Pathogenicity Prediction and Phenotype Matching Improves Variant Prioritization in Rare Clinical Testing2026 · DOAJ
64Gene dosage imbalance disrupts systemic metabolism in the Dp16 Down syndrome mouse model2026 · DOAJ
65mRNA Sequencing of Limbal Epithelial Cells and mRNA/miRNA Profiling of Limbal Stromal Cells in PAX6-Related Congenital Aniridia2026 · DOAJ
66Late infantile neuronal ceroid lipofuscinosis type 6 (CLN6) in Three Children from El salvador: a case series2026 · DOAJ
68Diagnostic yield of cancer predisposition in a nationwide prospective childhood acute leukemia cohort2026 · DOAJ
69Genomic Profiling of Anophthalmia/Microphthalmia‐Associated CNVs Reveals Complex Genotype–Phenotype Correlations and Incomplete Penetrance2026 · DOAJ
70Romosozumab Efficacy in Osteoporosis: Influence of Diabetes and Previous Antiresorptive Therapy: A Single Centre Experience2026 · DOAJ
73Variant-specific RNA testing resolves variants of uncertain significance in exome testing2026 · DOAJ
75A practical framework to approach the development and evaluation of patient registries for rare diseases2026 · DOAJ
77Novel compound heterozygous POR variants in a neonate with Antley-Bixler syndrome and 46,XY DSD: a case report and literature review2026 · DOAJ
78Unsupervised characterization of 100,272 EHR patients identifies high-risk groups and comorbidities linked to premature aging2026 · DOAJ
79Improving nursing students’ clinical experience with genetics: the influence of prior knowledge and leadership support through the Donabedian Model2026 · DOAJ
81Genetic Variants and Clinical Characteristics of Young‐Onset Parkinson's Disease in the Hakka Population of Western Fujian2026 · DOAJ
82Integrative meta-GWAS and lipidomics reveal genetic regulators of nutritional fatty acids and lipid metabolites in chicken liver lipid accumulation2026 · DOAJ
84Programmed cell death-1: from a T-cell immune checkpoint to a regulator of Natural Killer cell biology2026 · DOAJ
85Fatty acid-binding protein 5 deficiency impairs alveolar macrophage function and metabolism2026 · DOAJ
86First report of carbapenemase-producing bacteria from poultry farms in the United Arab Emirates: an emerging One Health threat2026 · DOAJ
87Identification of a Novel MTM1 Mutation Associated with X-Linked Myotubular Myopathy: Clinical and Molecular Insights for Prenatal Diagnosis2026 · DOAJ
89First diagnosis of familial partial lipodystrophy syndrome type 3 during pregnancy associated with a novel heterozygous PPARG variant and a concurrent ABCC8 variant: a case report2026 · DOAJ
93Prothrombin G20210A and Factor V Leiden Variants Are Not Associated With Thrombotic Events in Congenital Heart Disease: An Observational Trial2026 · DOAJ
95Development of a Complex Biofeedback-Based Intervention to Improve Methotrexate Adherence in Rheumatoid Arthritis: A COM-B Model Informed Qualitative Study2026 · DOAJ
96Congenital Coarctation of the Aorta in a Patient With ROBO4 c.695C>T (p.Thr232Met) Germline Variant2026 · DOAJ
97Case Report: Prenatal diagnosis of congenital knee dislocation caused by BICD2 gene variant2026 · DOAJ
98The genetic insights of sporadic male infertility: a systematic review of WES and WGS studies (2014–2024)2026 · DOAJ
99A comprehensive in silico analysis of the mutation spectrum of the PAH gene in the Iranian population: Designing a novel workflow for predicting putative mutations in the Iranome database2026 · DOAJ
100A Researcher’s guide to rodent models of Down syndrome: Recent insights and translational perspectives2026 · DOAJ