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Circulation|February 5, 2025
Efficacy of Irbesartan in Celiprolol-Treated Patients With Vascular Ehlers-Danlos SyndromeXavier Jeunemaitre, Elie Mousseaux, Michael Frank, et al.
World Journal of Virology|November 18, 2017
Real-world cure rates for hepatitis C virus treatments that include simeprevir and/or sofosbuvir are comparable to clinical trial resultsKian Bichoupan, Neeta Tandon, James F Crismale, et al.
Signal Transduction and Targeted Therapy|March 2, 2026
Enhancing KLF15 activity in cardiomyocytes: a novel approach to prevent pathological reprogramming and fibrosis via nuclease-deficient dCas9VPREric Schoger, Rosa Kim, Federico Bleckwedel, et al.
Human Mutation|December 11, 2019
The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotypeGökhan Yigit, Ken Saida, Danielle DeMarzo, et al.
Nature Metabolism|November 20, 2019
The lipid droplet-associated protein ABHD5 protects the heart through proteolysis of HDAC4Zegeye H Jebessa, Kumar D Shanmukha, Matthias Dewenter, et al.
European Journal of Human Genetics : EJHG|November 22, 2021
Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestaltFlavien Rouxel, Kevin Yauy, Guilaine Boursier, et al.
Journal of Medical Genetics|November 11, 2022
OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrumTristan Celse, Angèle Tingaud-Sequeira, Klaus Dieterich, et al.
American Journal of Medical Genetics. Part A|April 14, 2026
35 Individuals With HUWE1-Related Neurodevelopmental Disorder and Suggested Clinical EvaluationsMindy H Li, Deziree L Coleman, Kelsey Hogan, et al.
Life (Basel, Switzerland)|May 28, 2022
Structured, Harmonized, and Interoperable Integration of Clinical Routine Data to Compute Heart Failure Risk ScoresKim K Sommer, Ali Amr, Udo Bavendiek, et al.
Journal of Hepatology|August 19, 2007
Presentation and outcome of hepatocellular carcinoma in HIV-infected patients: a U.S.-Canadian multicenter studyNorbert Bräu, Rena K Fox, Peiying Xiao, et al.
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