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Nature Genetics|May 10, 2006
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndromeEnza Maria Valente, Jennifer L Silhavy, Francesco Brancati, et al.
Disability and Rehabilitation|May 19, 2021
Challenges and resources in adult life with Joubert syndrome: issues from an international classification of functioning (ICF) perspectiveRomina Romaniello, Chiara Gagliardi, Patrizia Desalvo, et al.
Jornal Brasileiro De Nefrologia|March 30, 2017
Comparative analysis of primary and secondary glomerulopathies in the northeast of Brazil: data from the Pernambuco Registry of Glomerulopathies - REPEGDenise Maria do Nascimento Costa, Lucila Maria Valente, Pedro Alves da Cruz Gouveia, et al.
Molecular Genetics & Genomic Medicine|May 18, 2018
Whole-exome sequencing for variant discovery in blepharospasmJun Tian, Satya R Vemula, Jianfeng Xiao, et al.
The Journal of Rheumatology|November 17, 2019
Effect of a Single Apolipoprotein L1 Gene Nephropathy Variant on the Risk of Advanced Lupus Nephritis in BraziliansGisele Vajgel, Suelen Cristina Lima, Diego Jeronimo S Santana, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|April 20, 2006
Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's diseaseRoberta Marongiu, Daniele Ghezzi, Tamara Ialongo, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|October 26, 2024
Genetic and Epidemiological Insights into RAB32-Linked Parkinson's DiseaseMandy Radefeldt, Sabrina Lemke, Kridsadakorn Chaichoompu, et al.
Genes|July 29, 2025
Expanding the Phenotypic Spectrum Associated with DPH5-Related Diphthamide DeficiencyDavide Politano, Cecilia Mancini, Massimiliano Celario, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|November 8, 2018
Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndromeSara Nuovo, Laura Fuiano, Alessia Micalizzi, et al.
Frontiers in Medicine|April 25, 2022
Sarcopenia in Non-Dialysis Chronic Kidney Disease Patients: Prevalence and Associated FactorsGeraldo José de Amorim, Cinthia Katiane Martins Calado, Bruno Carlos Souza de Oliveira, et al.
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