Spectrum of HNF1B Mutations in a Large Cohort of Patients Who Harbor Renal Diseases
2010 · Clinical Journal of the American Society of Nephrology · 292 citations
https://doi.org/10.2215/cjn.06810909
L
Laurence Heidet
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Laurence Heidet is an academic researcher from Hôpital Necker-Enfants Malades. The author has contributed to research in topics: Renal and related cancers & Cell Adhesion Molecules Research & Renal Diseases and Glomerulopathies. The author has an h-index of 46, co-authored 175 publications.
ORCID: 0000-0002-1362-5515Papers by this author
worksThe European Rare Kidney Disease Registry (ERKReg): objectives, design and initial results
2021 · Orphanet Journal of Rare Diseases · 63 citations
https://doi.org/10.1186/s13023-021-01872-8
Performance and clinical utility of a new supervised machine-learning pipeline in detecting rare ciliopathy patients based on deep phenotyping from electronic health records and semantic similarity
2024 · Orphanet Journal of Rare Diseases · 12 citations
https://doi.org/10.1186/s13023-024-03063-7
Influenza vaccination among children with idiopathic nephrotic syndrome: an investigation of practices
2019 · BMC Nephrology · 9 citations
https://doi.org/10.1186/s12882-019-1240-2
Fanconi syndrome and severe polyuria: an uncommon clinicobiological presentation of a Gitelman syndrome
2014 · BMC Pediatrics · 7 citations
https://doi.org/10.1186/1471-2431-14-201
Developmental Renal Glomerular Defects at the Origin of Glomerulocystic Disease
2020 · Cell Reports · 6 citations
https://doi.org/10.1016/j.celrep.2020.108304
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