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The Journal of Experimental Medicine|December 14, 2020
ERCC1 mutations impede DNA damage repair and cause liver and kidney dysfunction in patientsKatja Apelt, Susan M White, Hyun Suk Kim, et al.
European Journal of Human Genetics : EJHG|July 19, 2025
A new multisystem ERCC1-hepatorenal syndrome: insights from a clinical cohort, molecular pathogenesis, and management guidelinesSusan M White, Annelotte P Wondergem, Isa Breet, et al.
Nature Reviews. Nephrology|May 21, 2026
Gene-disease relationships for glomerular phenotypes: expert recommendations from ClinGenAlicia B Byrne, Anna S Li, Edmund Y M Chung, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 17, 2020
Clinical impact of genomic testing in patients with suspected monogenic kidney diseaseKushani Jayasinghe, Zornitza Stark, Peter G Kerr, et al.
BMC Nephrology|February 3, 2025
Enhancing diagnostic outcomes in kidney genetic disorders: the KidGen national kidney genomics study protocolAmali Mallawaarachchi, Hugh McCarthy, Thomas A Forbes, et al.
Human Genomics|August 17, 2024
Shaping the future of kidney genetics in Australia: proceedings from the KidGen policy implementation workshop 2023Amali Mallawaarachchi, Erik Biros, Trudie Harris, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 7, 2021
Ensuring best practice in genomics education and evaluation: reporting item standards for education and its evaluation in genomics (RISE2 Genomics)Amy Nisselle, Monika Janinski, Melissa Martyn, et al.
Kidney International Reports|August 19, 2024
Implementation and Evaluation of a National Multidisciplinary Kidney Genetics Clinic Network Over 10 YearsKushani Jayasinghe, Erik Biros, Trudie Harris, et al.
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