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Health Technology Assessment (Winchester, England)|September 8, 2017
Cognitive-behaviour therapy for health anxiety in medical patients (CHAMP): a randomised controlled trial with outcomes to 5 yearsPeter Tyrer, Paul Salkovskis, Helen Tyrer, et al.
Human Genetics|January 26, 2021
A biallelic variant in CLRN2 causes non-syndromic hearing loss in humansBarbara Vona, Neda Mazaheri, Sheng-Jia Lin, et al.
Critical Care Medicine|June 9, 2022
Impact of Pharmacists to Improve Patient Care in the Critically Ill: A Large Multicenter Analysis Using Meaningful Metrics With the Medication Regimen Complexity-ICU (MRC-ICU) ScoreAndrea Sikora, Deepak Ayyala, Megan A Rech, et al.
Research Square|June 10, 2024
p.L1795F LRRK2 variant is a common cause of Parkinson's disease in Central EuropeMiriam Ostrozovicova, Gertrud Tamas, Petr Dušek, et al.
Journal of Medical Genetics|November 11, 2020
Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndromePasquelena De Nittis, Stephanie Efthymiou, Alexandre Sarre, et al.
Movement Disorders Clinical Practice|March 22, 2025
Prevalence and Clinical Characteristics of the LRRK2 p.L1795F Variant in Central Europeans with Early-Onset and Familial Parkinson's DiseaseMiriam Ostrozovicova, Gertrud Tamas, Agsha Atputhavadivel, et al.
Frontiers in Molecular Neuroscience|April 23, 2024
Allelic heterogeneity and abnormal vesicle recycling in PLAA-related neurodevelopmental disordersMichele Iacomino, Nadia Houerbi, Sara Fortuna, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 14, 2020
Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative conditionShereen G Ghosh, Sangmoon Lee, Rudy Fabunan, et al.
Andrology|May 25, 2026
Improving the Understanding of Late Effects of Testicular Cancer in Adolescent and Young Adult Survivors: TRANSCEND-XRMohamad M Saab, Josephine Hegarty, Jack P Gleeson, et al.
Journal of Inherited Metabolic Disease|September 15, 2023
Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular traffickingRuizhi Duan, Dana Marafi, Zhi-Jie Xia, et al.
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