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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 Aldred
ERJ Open Research|October 13, 2016
Embolisation of PAVMs reported to improve nosebleeds by a subgroup of patients with hereditary haemorrhagic telangiectasiaClaire L Shovlin, Trishan Patel, James E Jackson
European Journal of Medical Genetics|August 19, 2021
DNA variant classification-reconsidering "allele rarity" and "phenotype" criteria in ACMG/AMP guidelinesConnor D Davieson, Katie E Joyce, Lakshya Sharma, et al.
Journal of Clinical Medicine|December 23, 2023
Pharmacogenomic Considerations for Anticoagulant Prescription in Patients with Hereditary Haemorrhagic TelangiectasiaSarah C McCarley, Daniel A Murphy, Jack Thompson, et al.
The Laryngoscope|February 14, 2013
Lifestyle and dietary influences on nosebleed severity in hereditary hemorrhagic telangiectasiaB Maneesha Silva, Anna E Hosman, Hannah L Devlin, et al.
Pulmonary Circulation|January 8, 2025
Elective Thoracic Surgical Resections for Pulmonary Arteriovenous Malformations - A 16 Year Single-Center ExperienceMay Al-Sahaf, Jon Anderson, Jayanta Nandi, et al.
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