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Journal of Inherited Metabolic Disease|July 19, 2020
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestionsBobby G Ng, Erik A Eklund, Sergey A Shiryaev, et al.
Annals of Neurology|December 6, 2017
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 casesRoeltje R Maas, Katarzyna Iwanicka-Pronicka, Sema Kalkan Ucar, et al.
Nature Reviews. Cardiology|February 19, 2025
Roadmap for alleviating the manifestations of ageing in the cardiovascular systemLuca Liberale, Simon Tual-Chalot, Simon Sedej, et al.
Human Mutation|March 1, 2019
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported IndividualsBobby G Ng, Paulina Sosicka, Satish Agadi, et al.
Journal of the Neurological Sciences|November 14, 2022
Frequency and burden of neurological manifestations upon hospital presentation in COVID-19 patients: Findings from a large Brazilian cohortMilena Soriano Marcolino, Fernando Anschau, Luciane Kopittke, et al.
Internal and Emergency Medicine|June 1, 2022
Predictors of venous thromboembolism in COVID-19 patients: results of the COVID-19 Brazilian RegistryWarley Cezar da Silveira, Lucas Emanuel Ferreira Ramos, Rafael Tavares Silva, et al.
International Journal of Infectious Diseases : IJID : Official Publication of the International Society for Infectious Diseases|January 22, 2022
Hypothyroidism does not lead to worse prognosis in COVID-19: findings from the Brazilian COVID-19 registryDaniella Nunes Pereira, Leticia Ferreira Gontijo Silveira, Milena Maria Moreira Guimarães, et al.
BMC Medicine|September 2, 2022
Development and validation of the MMCD score to predict kidney replacement therapy in COVID-19 patientsFlávio de Azevedo Figueiredo, Lucas Emanuel Ferreira Ramos, Rafael Tavares Silva, et al.
Nature Genetics|April 8, 2026
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changesRocio Rius, Alexander J M Blakes, Yuyang Chen, et al.
Internal and Emergency Medicine|September 25, 2022
Hospital characteristics associated with COVID-19 mortality: data from the multicenter cohort Brazilian RegistryMaira Viana Rego Souza-Silva, Patricia Klarmann Ziegelmann, Vandack Nobre, et al.
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