Associated Papers
Phenotypic characterization of a pediatric cohort with cystinuria and usefulness of newborn screening.
Piñero-Fernández JA et al.
Pediatric Nephrology (berlin, Germany), 2023
Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants.
Gaildrat P et al.
Molecular Genetics & Genomic Medicine, 2017
The genetic diversity of cystinuria in a UK population of patients.
Wong KA et al.
Bju International, 2015
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