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Journal of Hepatology|July 15, 2026
Impact of non-selective beta-blockers on acute kidney injury outcomes in patients with decompensated cirrhosisSimone Incicco, Kavish R Patidar, Adrià Juanola, et al.
Nature Genetics|April 10, 2025
Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsyDaniel Greene, Koenraad De Wispelaere, Jon Lees, et al.
The American Journal of Clinical Nutrition|June 3, 2023
Higher versus lower nut consumption and changes in cognitive performance over two years in a population at risk of cognitive decline: a cohort studyJiaqi Ni, Stephanie K Nishi, Nancy Babio, et al.
Journal of the American College of Cardiology|December 14, 2020
Global Burden of Cardiovascular Diseases and Risk Factors, 1990-2019: Update From the GBD 2019 StudyGregory A Roth, George A Mensah, Catherine O Johnson, et al.
The Lancet. Gastroenterology & Hepatology|March 9, 2025
Global epidemiology of acute kidney injury in hospitalised patients with decompensated cirrhosis: the International Club of Ascites GLOBAL AKI prospective, multicentre, cohort studyKavish R Patidar, Ann T Ma, Adrià Juanola, et al.
Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association|September 10, 2025
Real-world Use of Terlipressin in Cirrhosis and Acute Kidney Injury: Frequent Use Beyond Hepatorenal SyndromeAnn T Ma, Adrià Juanola, Kavish R Patidar, et al.
European Journal of Human Genetics : EJHG|April 27, 2024
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individualsDana E Layo-Carris, Emily E Lubin, Annabel K Sangree, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 20, 2026
Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumedSilvestre Cuinat, Valérie Cormier-Daire, Jeremie Rosain, et al.
Medrxiv : the Preprint Server for Health Sciences|January 31, 2024
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathiesSébastien Küry, Janelle E Stanton, Geeske van Woerden, et al.
Nature Communications|November 26, 2025
Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathiesSébastien Küry, Janelle E Stanton, Geeske M van Woerden, et al.
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