Laure Collard

Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome

Mathieu Lemaire, Véronique Frémeaux‐Bacchi, Franz Schaefer et al. · Nature Genetics · 2013 · 466 citations · Full text

Urology, Mendelian Disorder, Genetic Disorder +4

Refining genotype–phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants

Kathrin Burgmaier, Leonie Violetta Brinker, Florian Erger et al. · Kidney International · 2021 · 81 citations · Full text

Urology, Genetic Disorder, Medicine +12

Children on dialysis as well as renal transplanted children report severely impaired health-related quality of life

Anouck Splinter, Lidwien Tjaden, Lotte Haverman et al. · Quality of Life Research · 2018 · 76 citations · Full text

Schimke immunoosseous dysplasia: suggestions of genetic diversity

J. Marietta Clewing, Helen Fryssira, David Goodman et al. · Human Mutation · 2006 · 64 citations · Full text

Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney Disease

Kathrin Burgmaier, Kevin Kunzmann, Gema Ariceta et al. · The Journal of Pediatrics · 2018 · 58 citations · Full text

Glomerulonephritis, Hemodialysis, Urology +12