Chemical Reprogramming of Human Dermal and Umbilical Fibroblasts and Epigenetic Characterization of Partial Induction Toward Induced Pluripotent Stem Cells (iPSCs) May 19, 20260CommentsRead More
Fibroblast Heterogeneity in Wound Healing: Molecular Determinants of Regeneration versus Scar Formation May 19, 20260CommentsRead More
When Prader-Willi Is Not the Answer: A Neonatal Case of Schaaf-Yang Syndrome May 19, 20260CommentsRead More
A rare case of Pontocerebellar Hypoplasia Type 1B: The role of Whole Exome Sequencing in neurological diseases May 19, 20260CommentsRead More
THE IMPACT OF NUCLEAR GENES ON MITOCHONDRIAL FUNCTION: A CASE REPORT OF MIOPATHY IN A PAEDIATRIC PATIENT May 19, 20260CommentsRead More
Somatic Profiling to Germline Discovery revealing Li-Fraumeni Syndrome in Metastatic Colorectal Cancer May 19, 20260CommentsRead More
When Somatic Mutations Tell a Germline Story: An Unexpected Diagnosis of Attenuated FAP May 19, 20260CommentsRead More
SCREENING FOR LIMB-GIRDLE MUSCLE DYSTROPHY: THE IMPORTANCE OF GENETIC COUNSELING FOR FUTURE GENERATIONS May 19, 20260CommentsRead More
Acute Ischemic Stroke and Suspected Moyamoya Disease in a Pediatric Patient with Trisomy 21 May 19, 20260CommentsRead More
A 10 YEAR DIAGNOSTIC ODYSSEY IN OSTEOGENESIS IMPERFECTA: FROM UNINFORMATIVE MULTIPLEX LIGATION-DEPENDENT PROBE AMPLIFICATION TO A DEFINITIVE DIAGNOSIS VIA WHOLE EXOME SEQUENCING May 19, 20260CommentsRead More
