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American Journal of Human Genetics|January 3, 2025
When "loss-of-function" means proteostasis burden: Thinking again about coding DNA variantsClaire L Shovlin, Micheala A AldredJournal of Pediatric Endocrinology & Metabolism : JPEM|June 23, 2006
Genetics of pseudohypoparathyroidism types Ia and IcMicheala A AldredQJM : Monthly Journal of the Association of Physicians|December 10, 2024
Acute endothelial stresses identify microRNA let-7b-5p and non-coding SLC11A2 (NRAMP2/DMT1) exon as biomarkers that overlap with those detected in malignant and non-malignant diseasesAdrianna M Bielowka, Dilip Patel, Dongyang Li, et al.Genes|October 22, 2020
DNA Damage and Repair in Pulmonary Arterial HypertensionSamantha Sharma, Micheala A AldredFrontiers in Genetics|April 28, 2015
Circulatory contributors to the phenotype in hereditary hemorrhagic telangiectasiaClaire L ShovlinIntractable & Rare Diseases Research|October 25, 2014
Iron deficiency, ischaemic strokes, and right-to-left shunts: From pulmonary arteriovenous malformations to patent foramen ovale?Claire L ShovlinBlood Reviews|September 28, 2010
Hereditary haemorrhagic telangiectasia: pathophysiology, diagnosis and treatmentClaire L ShovlinAmerican Journal of Respiratory and Critical Care Medicine|November 25, 2014
Pulmonary arteriovenous malformationsClaire L ShovlinCirculation Research|April 28, 2022
New Mutations and Pathogenesis of Pulmonary Hypertension: Progress and Puzzles in Disease PathogenesisMicheala A Aldred, Nicholas W Morrell, Christophe GuignabertEjhaem|August 21, 2023
Unsupervised machine learning algorithms identify expected haemorrhage relationships but define unexplained coagulation profiles mapping to thrombotic phenotypes in hereditary haemorrhagic telangiectasiaGhazel Mukhtar, Claire L ShovlinPageof 13