Suchergebnis | Hamburg Open Science

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4 Einträge gefunden

Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions
2023 - Forschungsinformationssystem des UKE - frei zugänglich
Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants
2021 - Forschungsinformationssystem des UKE - frei zugänglich
Severe neurological outcomes after very early bilateral nephrectomies in patients with autosomal recessive polycystic kidney disease (ARPKD)
2020 - Forschungsinformationssystem des UKE
The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping
2019 - Forschungsinformationssystem des UKE