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19 results

The Engineering of Human Synthetic Chromosomes for Exosome-based Therapeutics
poster

The Engineering of Human Synthetic Chromosomes for Exosome-based Therapeutics

2023 AMA Research Challenge

Delon Altherr
Delon Altherr

18 October 2023

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

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

2023 AMA Research Challenge

Caroline Theile
Caroline Theile

18 October 2023

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

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

2023 AMA Research Challenge

Solabomi Ojeniyi
Solabomi Ojeniyi

18 October 2023

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

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

2023 AMA Research Challenge

Andrea Ortiz Maldonado
Andrea Ortiz Maldonado

18 October 2023

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

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

2023 AMA Research Challenge

Mehul Mehra
Mehul Mehra

18 October 2023

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

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

2023 AMA Research Challenge

Victoria Murray
Victoria Murray

18 October 2023

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

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

2023 AMA Research Challenge

Kevin O'Leary
Kevin O'Leary

18 October 2023

Genetic Variation in SLCO1B1 Increases Risk for Atorvastatin Muscle Side Effects
poster

Genetic Variation in SLCO1B1 Increases Risk for Atorvastatin Muscle Side Effects

2022 AMA Research Challenge

Anna Myrmoe
Anna Myrmoe

21 October 2022

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

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

2022 AMA Research Challenge

Marie Discenza
Marie Discenza

21 October 2022

A Unique Monoallelic Presentation of Familial Mediterranean Fever
poster

A Unique Monoallelic Presentation of Familial Mediterranean Fever

2022 AMA Research Challenge

Jameson Dowell
Jameson Dowell

21 October 2022

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

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

2022 AMA Research Challenge

Samantha Lau
Samantha Lau

21 October 2022

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

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

Diagnostics North East

Dr Michael Wright
Dr Michael Wright

13 October 2021

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