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Did you mean maillard h[au] (151 results)?
Electrolyte Disturbances in SARS-CoV-2 Infection.
Mabillard H, Sayer JA. Mabillard H, et al. F1000Res. 2020 Jun 10;9:587. doi: 10.12688/f1000research.24441.2. eCollection 2020. F1000Res. 2020. PMID: 33093945 Free PMC article. Review.
The Molecular Genetics of Gordon Syndrome.
Mabillard H, Sayer JA. Mabillard H, et al. Genes (Basel). 2019 Nov 29;10(12):986. doi: 10.3390/genes10120986. Genes (Basel). 2019. PMID: 31795491 Free PMC article. Review.
UMOD and you! Explaining a rare disease diagnosis.
Mabillard H, Olinger E, Sayer JA. Mabillard H, et al. J Rare Dis (Berlin). 2022;1(1):4. doi: 10.1007/s44162-022-00005-4. Epub 2022 Dec 7. J Rare Dis (Berlin). 2022. PMID: 36569465 Free PMC article. Review.
An intermediate-effect size variant in UMOD confers risk for chronic kidney disease.
Olinger E, Schaeffer C, Kidd K, Elhassan EAE, Cheng Y, Dufour I, Schiano G, Mabillard H, Pasqualetto E, Hofmann P, Fuster DG, Kistler AD, Wilson IJ, Kmoch S, Raymond L, Robert T; Genomics England Research Consortium; Eckardt KU, Bleyer AJ Sr, Köttgen A, Conlon PJ, Wiesener M, Sayer JA, Rampoldi L, Devuyst O. Olinger E, et al. Among authors: mabillard h. Proc Natl Acad Sci U S A. 2022 Aug 16;119(33):e2114734119. doi: 10.1073/pnas.2114734119. Epub 2022 Aug 10. Proc Natl Acad Sci U S A. 2022. PMID: 35947615 Free PMC article.
Investigation and management of renal stone disease.
Mabillard HR, Tomson CRV. Mabillard HR, et al. Nephrol Dial Transplant. 2017 Dec 1;32(12):1984-1986. doi: 10.1093/ndt/gfx306. Nephrol Dial Transplant. 2017. PMID: 29145637 No abstract available.
Case Report: Renal potassium wasting in SARS-CoV-2 infection.
Mabillard H, Tedd H, Speight A, Duncan C, Price DA, Sayer JA. Mabillard H, et al. F1000Res. 2020 Jun 30;9:659. doi: 10.12688/f1000research.24621.2. eCollection 2020. F1000Res. 2020. PMID: 33299549 Free PMC article.
Biallelic variants in TTC21B as a rare cause of early-onset arterial hypertension and tubuloglomerular kidney disease.
Olinger E, Phakdeekitcharoen P, Caliskan Y, Orr S, Mabillard H, Pickles C, Tse Y, Wood K; Genomics England Research Consortium; Sayer JA. Olinger E, et al. Among authors: mabillard h. Am J Med Genet C Semin Med Genet. 2022 Mar;190(1):109-120. doi: 10.1002/ajmg.c.31964. Epub 2022 Mar 15. Am J Med Genet C Semin Med Genet. 2022. PMID: 35289079 Free PMC article.
Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants.
Molinari E, Decker E, Mabillard H, Tellez J, Srivastava S, Raman S, Wood K, Kempf C, Alkanderi S, Ramsbottom SA, Miles CG, Johnson CA, Hildebrandt F, Bergmann C, Sayer JA. Molinari E, et al. Among authors: mabillard h. Eur J Hum Genet. 2018 Dec;26(12):1791-1796. doi: 10.1038/s41431-018-0212-5. Epub 2018 Jul 12. Eur J Hum Genet. 2018. PMID: 30002499 Free PMC article.
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