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8 Einträge gefunden

Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants
2021 - Forschungsinformationssystem des UKE - frei zugänglich
Atypical Hemolytic and Uremic Syndrome Triggered by Infection With SARS-CoV2
2021 - Forschungsinformationssystem des UKE - frei zugänglich
HNF1B nephropathy has a slow-progressive phenotype in childhood-with the exception of very early onset cases: results of the German Multicenter HNF1B Childhood Registry.
2019 - Forschungsinformationssystem des UKE
International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people
2019 - Forschungsinformationssystem des UKE
Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies
2018 - Forschungsinformationssystem des UKE
OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67)
2015 - Forschungsinformationssystem des UKE - frei zugänglich
Combined liver-kidney transplantation for children with autosomal recessive polycystic kidney disease (ARPKD): indication and outcome.
2013 - Forschungsinformationssystem des UKE
Double homozygous missense mutations in DACH1 and BMP4 in a patient with bilateral cystic renal dysplasia.
2013 - Forschungsinformationssystem des UKE