Results 181 to 190 of about 6,344 (210)

ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3

Nature Genetics, 2013
Jan Halbritter, Daniel Epting, Jeroen van Reeuwijk   +2 more
exaly  

Mutations of NPHP2 and NPHP3 in infantile nephronophthisis

Kidney International, 2009
Kalman Tory, Marie-Claire Gubler, Vincent Morinière   +2 more
exaly  

Identification of a New Gene Locus for Adolescent Nephronophthisis, on Chromosome 3q22 in a Large Venezuelan Pedigree

American Journal of Human Genetics, 2000
Heymut Omran, Karsten Häffner, André Reis   +2 more
exaly  

Nephronophthisis Registry

Neuropediatrics, 2015
H. Omran, J. König
openaire   +1 more source

Changes in the urinary extracellular vesicle proteome are associated with nephronophthisis-related ciliopathies

Journal of Proteomics, 2019
Marijn F Stokman, Irene V Bijnsdorp, Tim Schelfhorst   +2 more
exaly  

Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination

Nature Genetics, 2003
Bernhard Schermer, Tomoko Obara, Edgar A Otto   +2 more
exaly  

Ultrasound findings in juvenile nephronophthisis

Pediatric Nephrology, 1996
Uwe Querfeld, Bradley A Warady
exaly  

Nephronophthisis Registry

Neuropediatrics, 2012
J König, H Omran, G Kurlemann, O Schmitt, M Lablans, F Ückert, M Konrad   +6 more
openaire   +1 more source

Characterization of the NPHP1 Locus: Mutational Mechanism Involved in Deletions in Familial Juvenile Nephronophthisis

American Journal of Human Genetics, 2000
Sophie Saunier, Joaquim Calado, Corinne Antignac   +2 more
exaly  

Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy

American Journal of Human Genetics, 2019
Jan Halbritter, Daniela Anne Braun, Markus Schueler   +2 more
exaly