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Works (6)

Kidney Panel-ACTN4

2025-01-15 | Dataset | Author
DOI: 10.6084/m9.figshare.28212140
SOURCE-WORK-ID:

28212140
Contributors: Paola
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figshare

Kidney Panel Variants

2025-01-13 | Dataset | Author
DOI: 10.6084/m9.figshare.28199999
SOURCE-WORK-ID:

28199999
Contributors: Paola
Source: check_circle
figshare

Dataset Kidney Panel Variants 2024 #20-25

2024-12-18 | Dataset | Author
DOI: 10.6084/m9.figshare.25422940
SOURCE-WORK-ID:

25422940
Contributors: Paola
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figshare

A case of diffuse kidney hyperechogenicity in early childhood associated with biallelic PKHD1 variants

Pediatric Nephrology
2024-09 | Journal article
DOI: 10.1007/s00467-024-06348-y
Contributors: Paola Krall; Víctor Faundes; Carla Gálvez; Felipe Cavagnaro
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Crossref

Bilateral nephrocalcinosis: an unusual presentation in early childhood with PKHD1 biallelic inheritance

2023-10-30 | Preprint
DOI: 10.21203/rs.3.rs-3439701/v1
Contributors: Paola Krall; Victor Faúndes; Carla Galvez; Felipe Cavagnaro
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Crossref

Nephropathic cystinosis in a Chilean cohort: Clinical and genetic characterization

2022-06-06 | Preprint
DOI: 10.21203/rs.3.rs-1717027/v1
Contributors: Paola Krall; Jean Antoine Grandy Henríquez; Lillian Bolte; Jennie Salgado; Felipe Cavagnaro; Claudia Gonzalez; Jose Luis Guerrero
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Crossref
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