Results 121 to 130 of about 2,905 (217)

NEDD4-family E3 ligase dysfunction due to PKHD1/Pkhd1 defects suggests a mechanistic model for ARPKD pathobiology

open access: gold, 2017
Jun-Ya Kaimori   +18 more
openalex   +1 more source

Qualitative Analysis and Comparison of Externally Led Patient-Focused Drug Development Concepts for Autosomal Recessive Polycystic Kidney Disease Against SONG Initiatives. [PDF]

open access: yesKidney Med
Soyfer B   +9 more
europepmc   +1 more source

Multi-exon deletions of the PKHD1 gene cause autosomal recessive polycystic kidney disease (ARPKD) [PDF]

open access: bronze, 2005
Carsten Bergmann   +6 more
openalex   +1 more source

Autosomal recessive polycystic kidney disease (ARPKD) in a Nigerian newborn: a case report.

open access: green, 2018
Ziyaad Dangor   +6 more
openalex   +2 more sources

Atypical presentations of fetal polycystic kidney disease demonstrates the utility of a genomic autopsy for accurate post-mortem diagnoses. [PDF]

open access: yesHum Genomics
Frank MSB   +32 more
europepmc   +1 more source

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