Associated Papers
Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).
Pinto E Vairo F et al.
Journal of Translational Medicine, 2023
37353797 (PubMed )
Supplement: 12967_2023_4183_MOESM3_ESM.xlsx › Table_S3
Challenging Disease Ontology by Instances of Atypical PKHD1 and PKD1 Genetics.
de Fallois J et al.
Frontiers in Genetics, 2021
Genetic Complexity of Autosomal Dominant Polycystic Kidney and Liver Diseases.
Cornec-Le Gall E et al.
Journal of the American Society of Nephrology : Jasn, 2018
Genetics and pathogenesis of autosomal dominant polycystic kidney disease: 20 years on.
Cornec-Le Gall E et al.
Human Mutation, 2014
Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD.
Vujic M et al.
Journal of the American Society of Nephrology : Jasn, 2010
Autosomal Dominant Polycystic Kidney Disease: Presence of Hypomorphic Alleles in PKD1 Gene.
Pandita S et al.
Indian Journal of Nephrology, 0
Genomics Integration Into Nephrology Practice.
Pinto E Vairo F et al.
Kidney Medicine, 0
34746741 (PubMed )
Supplement: mmc4.xlsx › Sheet1
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