Results 181 to 190 of about 2,428 (197)

PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD)†

Human Mutation, 2004
Jan Senderek, Carsten Bergmann, Jutta Kirfel   +2 more
exaly  

Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD)†‡

Human Mutation, 2005
Jan Senderek, Frank Schneider, Carsten Bergmann   +2 more
exaly  

PHENOTYPIC VARIABILITIES IN SIBLINGS WITH ARPKD

2022
openaire   +1 more source

Initial evaluation of hepatic T1 relaxation time as an imaging marker of liver disease associated with autosomal recessive polycystic kidney disease (ARPKD)

NMR in Biomedicine, 2016
Rebecca Schur, David A DeSantis, Ying Gao   +2 more
exaly  

Analysis of missense variants in the PKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD)

Human Genetics, 2005
Dorien Peters, Stefan J White, Monique Losekoot   +2 more
exaly  

End-stage renal disease due to ARPKD in the first months of life: Transplantation or dialysis? – Two case reports

Pediatric Transplantation, 2010
Frank Lehner, Lars Pape, Jens Drube
exaly  

Combined liver-kidney transplantation for children with autosomal recessive polycystic kidney disease (ARPKD): indication and outcome.

Transplant International, 2013
Rainer Ganschow, Florian Brinkert, Carsten Bergmann   +2 more
exaly  

Clinical and genetic characterization of a founder PKHD1 mutation in Afrikaners with ARPKD

Pediatric Nephrology, 2014
Lisa M Guay-Woodford, Amanda Krause, Fahmida Essop   +2 more
exaly  

Everything you need to know about ARPKD

The Journal of Pediatrics, 2014
openaire   +1 more source

Next generation sequencing identifies WNT signalling as a significant pathway in Autosomal Recessive Polycystic Kidney Disease (ARPKD) manifestation and may be linked to disease severity

Biochimica Et Biophysica Acta - Molecular Basis of Disease
Paraskevi Goggolidou, Patricia Wilson
exaly