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EMBO Molecular Medicine|June 9, 2023
TAPT1-at the crossroads of extracellular matrix and signaling in Osteogenesis imperfectaJulia Etich, Oliver Semler, Nicola L Stevenson, et al.
The Journal of Clinical Investigation|June 3, 2011
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamicsClaudia Dafinger, Max Christoph Liebau, Solaf Mohamed Elsayed, et al.
Kidney International Reports|July 11, 2022
Phenotypic Variability in Siblings With Autosomal Recessive Polycystic Kidney DiseaseRamona Ajiri, Kathrin Burgmaier, Nurver Akinci, et al.
BMC Nephrology|April 18, 2015
Rationale, design and objectives of ARegPKD, a European ARPKD registry studyKathrin Ebner, Markus Feldkoetter, Gema Ariceta, et al.
Scientific Reports|September 30, 2020
Severe neurological outcomes after very early bilateral nephrectomies in patients with autosomal recessive polycystic kidney disease (ARPKD)Kathrin Burgmaier, Gema Ariceta, Martin Bald, et al.
Scientific Reports|November 5, 2021
Early childhood height-adjusted total kidney volume as a risk marker of kidney survival in ARPKDKathrin Burgmaier, Samuel Kilian, Klaus Arbeiter, et al.
Kidney International Reports|September 12, 2022
Refining Kidney Survival in 383 Genetically Characterized Patients With NephronophthisisJens Christian König, Rebeka Karsay, Joachim Gerß, et al.
Kidney International|February 8, 2025
A risk score to predict kidney survival in patients with autosomal recessive polycystic kidney disease at the age of two monthsKathrin Burgmaier, Samuel Kilian, Klaus Arbeiter, et al.
Kidney International|May 3, 2021
Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variantsKathrin Burgmaier, Leonie Brinker, Florian Erger, et al.
The Journal of Pediatrics|May 14, 2018
Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney DiseaseKathrin Burgmaier, Kevin Kunzmann, Gema Ariceta, et al.
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