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Page 1
Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome.
Arrondel C, Missoury S, Snoek R, Patat J, Menara G, Collinet B, Liger D, Durand D, Gribouval O, Boyer O, Buscara L, Martin G, Machuca E, Nevo F, Lescop E, Braun DA, Boschat AC, Sanquer S, Guerrera IC, Revy P, Parisot M, Masson C, Boddaert N, Charbit M, Decramer S, Novo R, Macher MA, Ranchin B, Bacchetta J, Laurent A, Collardeau-Frachon S, van Eerde AM, Hildebrandt F, Magen D, Antignac C, van Tilbeurgh H, Mollet G. Arrondel C, et al. Among authors: novo r. Nat Commun. 2019 Sep 3;10(1):3967. doi: 10.1038/s41467-019-11951-x. Nat Commun. 2019. PMID: 31481669 Free PMC article.
Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome.
Brochard K, Boyer O, Blanchard A, Loirat C, Niaudet P, Macher MA, Deschenes G, Bensman A, Decramer S, Cochat P, Morin D, Broux F, Caillez M, Guyot C, Novo R, Jeunemaître X, Vargas-Poussou R. Brochard K, et al. Among authors: novo r. Nephrol Dial Transplant. 2009 May;24(5):1455-64. doi: 10.1093/ndt/gfn689. Epub 2008 Dec 18. Nephrol Dial Transplant. 2009. PMID: 19096086
Mutations of CEP83 cause infantile nephronophthisis and intellectual disability.
Failler M, Gee HY, Krug P, Joo K, Halbritter J, Belkacem L, Filhol E, Porath JD, Braun DA, Schueler M, Frigo A, Alibeu O, Masson C, Brochard K, Hurault de Ligny B, Novo R, Pietrement C, Kayserili H, Salomon R, Gubler MC, Otto EA, Antignac C, Kim J, Benmerah A, Hildebrandt F, Saunier S. Failler M, et al. Among authors: novo r. Am J Hum Genet. 2014 Jun 5;94(6):905-14. doi: 10.1016/j.ajhg.2014.05.002. Epub 2014 May 29. Am J Hum Genet. 2014. PMID: 24882706 Free PMC article.
[Cystinosis in adults: A systemic disease].
Servais A, Goizet C, Bertholet-Thomas A, Decramer S, Llanas B, Choukroun G, Novo R. Servais A, et al. Among authors: novo r. Nephrol Ther. 2015 Jun;11(3):152-9. doi: 10.1016/j.nephro.2014.12.001. Epub 2015 Mar 11. Nephrol Ther. 2015. PMID: 25769364 Review. French.
Patient and transplant outcome in infants starting renal replacement therapy before 2 years of age.
Hogan J, Bacchetta J, Charbit M, Roussey G, Novo R, Tsimaratos M, Terzic J, Ulinski T, Garnier A, Merieau E, Harambat J, Vrillon I, Dunand O, Morin D, Berard E, Nobili F, Couchoud C, Macher MA; French Pediatric Nephrology Society. Hogan J, et al. Among authors: novo r. Nephrol Dial Transplant. 2018 Aug 1;33(8):1459-1465. doi: 10.1093/ndt/gfy040. Nephrol Dial Transplant. 2018. PMID: 29617835
National survey of prevention and management of CMV infection in pediatric kidney transplantation in comparison to clinical practice guidelines.
Madden I, Baudouin V, Charbit M, Ranchin B, Roussey G, Novo R, Garaix F, Decramer S, Fila M, Merieau E, Vrillon I, Zaloszyc A, Hogan J, Harambat J. Madden I, et al. Among authors: novo r. Front Pediatr. 2022 Dec 16;10:1057352. doi: 10.3389/fped.2022.1057352. eCollection 2022. Front Pediatr. 2022. PMID: 36589153 Free PMC article.
Prospective, randomized trial comparing short and long intravenous antibiotic treatment of acute pyelonephritis in children: dimercaptosuccinic acid scintigraphic evaluation at 9 months.
Bouissou F, Munzer C, Decramer S, Roussel B, Novo R, Morin D, Lavocat MP, Guyot C, Taque S, Fischbach M, Ouhayoun E; French Society of Nuclear Medicine and Molecular Imaging; Loirat C; French Society of Pediatric Nephrology. Bouissou F, et al. Among authors: novo r. Pediatrics. 2008 Mar;121(3):e553-60. doi: 10.1542/peds.2006-3632. Epub 2008 Feb 11. Pediatrics. 2008. PMID: 18267977 Clinical Trial.
85 results