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MAST1-related mega-corpus-callosum syndrome with central hypogonadism.
Eur J Med Genet. 2023 Nov;66(11):104853. doi: 10.1016/j.ejmg.2023.104853. Epub 2023 Sep 25.
Eur J Med Genet. 2023.
PMID: 37758169
Atypical phenotype of a patient with Bardet-Biedl syndrome type 4.
Sloboda N, Lambert L, Ciorna V, Bruel AL, Tran Mau-Them F, Gomola V, Lemelle JL, Klein O, Camoin-Schweitzer MC, Magnavacca M, Legagneur C, Ezsto ML, Bonnet C, Philippe C, Leheup B.
Sloboda N, et al.
Mol Genet Genomic Med. 2022 May;10(5):e1869. doi: 10.1002/mgg3.1869. Epub 2022 Mar 23.
Mol Genet Genomic Med. 2022.
PMID: 35318824
Free PMC article.
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Deletion of chr7p22 and chr15q11: Two Familial Cases of Immune Deficiency: Extending the Phenotype Toward Dysimmunity.
Sloboda N, Sorlin A, Valduga M, Beri-Dexheimer M, Bilbault C, Fouyssac F, Becker A, Lambert L, Bonnet C, Leheup B.
Sloboda N, et al.
Front Immunol. 2019 Aug 16;10:1871. doi: 10.3389/fimmu.2019.01871. eCollection 2019.
Front Immunol. 2019.
PMID: 31474980
Free PMC article.
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Efficacy of low dose nitisinone in the management of alkaptonuria.
Sloboda N, Wiedemann A, Merten M, Alqahtani A, Jeannesson E, Blum A, Henn-Ménétré S, Guéant JL, Renard E, Feillet F.
Sloboda N, et al.
Mol Genet Metab. 2019 Jul;127(3):184-190. doi: 10.1016/j.ymgme.2019.06.006. Epub 2019 Jun 19.
Mol Genet Metab. 2019.
PMID: 31235217
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Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome.
Besnard T, Sloboda N, Goldenberg A, Küry S, Cogné B, Breheret F, Trochu E, Conrad S, Vincent M, Deb W, Balguerie X, Barbarot S, Baujat G, Ben-Omran T, Bursztejn AC, Carmignac V, Datta AN, Delignières A, Faivre L, Gardie B, Guéant JL, Kuentz P, Lenglet M, Nassogne MC, Ramaekers V, Schnur RE, Si Y, Torti E, Thevenon J, Vabres P, Van Maldergem L, Wand D, Wiedemann A, Cariou B, Redon R, Lamazière A, Bézieau S, Feillet F, Isidor B.
Besnard T, et al. Among authors: sloboda n.
Genet Med. 2019 Sep;21(9):2025-2035. doi: 10.1038/s41436-019-0445-x. Epub 2019 Feb 6.
Genet Med. 2019.
PMID: 30723320
Free article.
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Potassium channel openers increase aortic elastic fiber formation and reverse the genetically determined elastin deficit in the BN rat.
Slove S, Lannoy M, Behmoaras J, Pezet M, Sloboda N, Lacolley P, Escoubet B, Buján J, Jacob MP.
Slove S, et al. Among authors: sloboda n.
Hypertension. 2013 Oct;62(4):794-801. doi: 10.1161/HYPERTENSIONAHA.113.01379. Epub 2013 Aug 5.
Hypertension. 2013.
PMID: 23918751
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Fatty acids impair endothelium-dependent vasorelaxation: a link between obesity and arterial stiffness in very old Zucker rats.
Sloboda N, Fève B, Thornton SN, Nzietchueng R, Regnault V, Simon G, Labat C, Louis H, Max JP, Muscat A, Osborne-Pellegrin M, Lacolley P, Benetos A.
Sloboda N, et al.
J Gerontol A Biol Sci Med Sci. 2012 Sep;67(9):927-38. doi: 10.1093/gerona/glr236. Epub 2012 Mar 1.
J Gerontol A Biol Sci Med Sci. 2012.
PMID: 22389459
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