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16 results

The Engineering of Human Synthetic Chromosomes for Exosome-based Therapeutics

Delon Altherr

Distal Renal Tubular Acidosis in the Setting of Sjogren Syndrome and Nephrolithiasis

Solabomi Ojeniyi

A Case in Verdigris: Late-Life Onset of Wilson Disease Identified by Genomic Data

Victoria Murray

Primate Chromosomal Abnormalities Detection Through Selective Sampling Across Large-Scale Genomic Data

Mehul Mehra

Identifying cell type transcriptome changes in COVID-19 patient PBMCs using metacells

Kevin O'Leary

Arginine, Glycine, and Creatine Supplementation Improves Symptoms in a Female with SLC6A8 Creatine Transporter Deficiency

Caroline Theile

INI Deficiency Unveiled: An Aggressive Case of Renal Cell Medullary Carcinoma.

Andrea Ortiz Maldonado

Genetic Variation in SLCO1B1 Increases Risk for Atorvastatin Muscle Side Effects

Anna Myrmoe

A Unique Monoallelic Presentation of Familial Mediterranean Fever

Jameson Dowell

Medical Genetics and Genomics - Observed outcomes of FMR1 PGT-M analysis with incorporation of CGG repeat expansion - Medical Genetics and Genomics

Marie Discenza

Medical Genetics and Genomics - Dual AAV-Mediated Gene Replacement Therapy Improves the Vestibular Function in a Mouse Model of USH1B - Medical Genetics and Genomics

Samantha Lau

From genes to genomes and beyond: developing genomic medicine in the NHS, Dr Michael Wright

Dr Michael Wright