Associated Papers
Genetic diagnosis and prenatal diagnosis of patients with cystic kidney disease in Southwest China.
Zhou C et al.
Bmc Nephrology, 2025
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome.
Serpieri V et al.
Journal of Medical Genetics, 2023
Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.
Consugar MB et al.
Human Genetics, 2007
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