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Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations.
Dollfus H, Lilien MR, Maffei P, Verloes A, Muller J, Bacci GM, Cetiner M, van den Akker ELT, Grudzinska Pechhacker M, Testa F, Lacombe D, Stokman MF, Simonelli F, Gouronc A, Gavard A, van Haelst MM, Koenig J, Rossignol S, Bergmann C, Zacchia M, Leroy BP, Mosbah H, Van Eerde AM, Mekahli D, Servais A, Poitou C, Valverde D. Dollfus H, et al. Among authors: servais a. Eur J Hum Genet. 2024 Nov;32(11):1347-1360. doi: 10.1038/s41431-024-01634-7. Epub 2024 Jul 31. Eur J Hum Genet. 2024. PMID: 39085583 Free PMC article. Review.
Clinical Practice Recommendations on Kidney Management in Methylmalonic Acidemia: an Expert Consensus Statement From ERKNet and MetabERN.
Servais A, Zacchia M, Dehoux L, Shroff R, Brassier A, Taurisano R, Kölker S, Oh J, Ariceta G, Stojanovic J, Hörster F, Strologo D, Spada M, Schiff M, Dionisi-Vici C. Servais A, et al. Kidney Int Rep. 2024 Sep 6;9(12):3362-3374. doi: 10.1016/j.ekir.2024.09.002. eCollection 2024 Dec. Kidney Int Rep. 2024. PMID: 39698355 Free PMC article.
Dent disease: clinical practice recommendations.
Bökenkamp A, Ariceta G, Böckenhauer D, Devuyst O, Emma F, van Bennekom D, Levtchenko E, Sayer J, Servais A, Vargas R, Zaniew M, Prikhodina L. Bökenkamp A, et al. Among authors: servais a. Nephrol Dial Transplant. 2025 Apr 28;40(5):852-864. doi: 10.1093/ndt/gfaf003. Nephrol Dial Transplant. 2025. PMID: 39794284 Review.
Real-world use of complement inhibitors for haemolytic uraemic syndrome: an analysis of the European Rare Kidney Disease Registry cohort.
Vujović A, Sellier-Leclerc AL, Mancuso MC, Boyer O, Awan A, Gargiulo A, Loos S, Fila M, Jankauskiene A, Ariceta G, Kanzelmeyer N, Vidal E, Van Dyck M, Levart TK, Šimánková N, Decramer S, Hofstetter J, Vivarelli M, Sciascia S, van de Kar NCAJ, Schaefer F; ERKNet TMA Working Group. Vujović A, et al. EClinicalMedicine. 2025 Mar 27;82:103159. doi: 10.1016/j.eclinm.2025.103159. eCollection 2025 Apr. EClinicalMedicine. 2025. PMID: 40224677 Free PMC article.
Pubertal origin of growth retardation in inborn errors of protein metabolism: A longitudinal cohort study.
Busiah K, Roda C, Crosnier AS, Brassier A, Servais A, Wicker C, Dubois S, Assoun M, Belloche C, Ottolenghi C, Pontoizeau C, Souberbielle JC, Piketty ML, Perin L, Le Bouc Y, Arnoux JB, Netchine I, Imbard A, de Lonlay P. Busiah K, et al. Among authors: servais a. Mol Genet Metab. 2024 Mar;141(3):108123. doi: 10.1016/j.ymgme.2023.108123. Epub 2024 Jan 1. Mol Genet Metab. 2024. PMID: 38219674
Cystinosis: a rare multisystem disease.
Servais A. Servais A. Pol Arch Intern Med. 2022 Nov 25;132(11):16363. doi: 10.20452/pamw.16363. Epub 2022 Nov 25. Pol Arch Intern Med. 2022. PMID: 36426771 Free article. No abstract available.
The RaDiCo information system for rare disease cohorts.
Landais P, Gueguen S, Clement A, Amselem S; RaDiCo Program. Landais P, et al. Orphanet J Rare Dis. 2025 Apr 8;20(1):166. doi: 10.1186/s13023-025-03629-z. Orphanet J Rare Dis. 2025. PMID: 40200372 Free PMC article.
Emphysematous pyelonephritis in a diabetic patient.
Otiniano A, Tassin C, Serris A, Guennouni N, Lanternier F, Servais A, Parize P, Guinebert S, Van Huyen JPD, Bodard S, Boudhabhay I. Otiniano A, et al. Among authors: servais a. J Nephrol. 2023 Dec;36(9):2621-2624. doi: 10.1007/s40620-023-01639-3. Epub 2023 May 16. J Nephrol. 2023. PMID: 37193924 No abstract available.
278 results