Associated Papers
Diagnostic Yields of Trio-WES Accompanied by CNVseq for Rare Neurodevelopmental Disorders.
Gao C et al.
Frontiers in Genetics, 2019
Long-term renal outcome in children with OCRL mutations: retrospective analysis of a large international cohort.
Zaniew M et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2018
Ocular Pathology of Oculocerebrorenal Syndrome of Lowe: Novel Mutations and Genotype-Phenotype Analysis.
Song E et al.
Scientific Reports, 2017
From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes.
Hichri H et al.
Human Mutation, 2011
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