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NPJ Genomic Medicine|December 2, 2024
Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomesCourtney E French, Nancy C Andrews, Alan H Beggs, et al.Nature Communications|September 27, 2024
Towards geospatially-resolved public-health surveillance via wastewater sequencingBraden T Tierney, Jonathan Foox, Krista A Ryon, et al.Radiology|February 18, 2011
Quantitative imaging test approval and biomarker qualification: interrelated but distinct activitiesAndrew J Buckler, Linda Bresolin, N Reed Dunnick, et al.Cell|August 2, 2022
A cross-disorder dosage sensitivity map of the human genomeRyan L Collins, Joseph T Glessner, Eleonora Porcu, et al.HGG Advances|February 20, 2026
Scaling Genomic Reanalysis to Unlock Diagnoses and Transform Rare Disease CareShira Rockowitz, Wanqing Shao, Courtney French, et al.Biorxiv : the Preprint Server for Biology|September 8, 2025
Aberrant recursive splicing in a human disease locusPhilip M Boone, Ricardo Harripaul, Rachita Yadav, et al.Fungal Biology|July 24, 2025
Celebrating the fifth edition of the International Symposium on Fungal Stress - ISFUS, a decade after its 2014 debutAlene Alder-Rangel, Amanda E A Rangel, Arturo Casadevall, et al.Medrxiv : the Preprint Server for Health Sciences|October 9, 2023
Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental featuresMorad Ansari, Kamli N W Faour, Akiko Shimamura, et al.Medrxiv : the Preprint Server for Health Sciences|December 3, 2025
Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtypeIlaria Parenti, Alina Hesters, Marta Gil-Salvador, et al.Nature Communications|March 30, 2026
Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtypeIlaria Parenti, Alina Hesters, Marta Gil-Salvador, et al.Pageof 51