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Human Mutation|April 14, 2025
Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes-ENG and ACVRL1Desiree DeMille, Jamie McDonald, Carmelo Bernabeu, et al.
The Journal of Clinical Investigation|October 3, 2003
A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiencyGilles Courtois, Asma Smahi, Janine Reichenbach, et al.
JAMA Network Open|April 13, 2026
Genetic Cascade Screening for Familial Hypercholesterolemia: A Randomized Clinical TrialDavid Nanchen, Aziz Chaouch, Renzo Scuderi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 12, 2019
Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD)Pauline Arnaud, Nadine Hanna, Louise Benarroch, et al.
The New England Journal of Medicine|November 26, 2025
Engasertib versus Placebo for Bleeding in Hereditary Hemorrhagic TelangiectasiaHanny Al-Samkari, Josefien Hessels, Antoni Riera-Mestre, et al.
Inflammatory Bowel Diseases|April 13, 2026
Transitioning to adult care for patients with IBD: the impact of a structured IBD transition program on service engagementJayne Doherty, Ciaran Hurley, Parker Girod, et al.
Plos One|October 20, 2022
MALDI-TOF MS: An effective tool for a global surveillance of dengue vector speciesAntsa Rakotonirina, Morgane Pol, Fara Nantenaina Raharimalala, et al.
Pacing and Clinical Electrophysiology : PACE|February 6, 2025
Role of Routine Electrophysiological Study Performed During Transcatheter Aortic Valve Replacement to Predict AV BlockMattia Pagnoni, David Meier, Adrian Luca, et al.
Frontiers in Genetics|March 28, 2015
Genetic variation in the functional ENG allele inherited from the non-affected parent associates with presence of pulmonary arteriovenous malformation in hereditary hemorrhagic telangiectasia 1 (HHT1) and may influence expression of PTPN14Tom G W Letteboer, Michael Benzinou, Christopher B Merrick, et al.
Parasitology Research|August 22, 2025
Molecular detection of Ehrlichia ruminantium in ticks from ruminants during the 2021 Rift Valley fever outbreak in Mananjary, MadagascarMamitina Alain Noah Rabenandrasana, Azimdine Habib, Michaël Luciano Tantely, et al.
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