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Oculo-Cutaneous Albinism Type 4 (OCA4): Phenotype-Genotype Correlation.
Moreno-Artero E, Morice-Picard F, Lasseaux E, Robert MP, Coste V, Michaud V, Leclerc-Mercier S, Bremond-Gignac D, Arveiler B, Hadj-Rabia S. Moreno-Artero E, et al. Genes (Basel). 2022 Nov 23;13(12):2198. doi: 10.3390/genes13122198. Genes (Basel). 2022. PMID: 36553465 Free PMC article.
[Clinical features of Spitz naevus in children: a retrospective study of 196 cases].
Le Saché-de Peufeilhoux L, Moulonguet I, Cavelier-Balloy B, Biaggi-Frassati A, Leclerc-Mercier S, Bodemer C, Fraitag S. Le Saché-de Peufeilhoux L, et al. Ann Dermatol Venereol. 2012 Jun;139(6-7):444-51. doi: 10.1016/j.annder.2012.03.016. Epub 2012 May 21. Ann Dermatol Venereol. 2012. PMID: 22721476 French.
Cutaneous and Visceral Chronic Granulomatous Disease Triggered by a Rubella Virus Vaccine Strain in Children With Primary Immunodeficiencies.
Neven B, Pérot P, Bruneau J, Pasquet M, Ramirez M, Diana JS, Luzi S, Corre-Catelin N, Chardot C, Moshous D, Leclerc Mercier S, Mahlaoui N, Aladjidi N, Le Bail B, Lecuit M, Bodemer C, Molina TJ, Blanche S, Eloit M. Neven B, et al. Clin Infect Dis. 2017 Jan 1;64(1):83-86. doi: 10.1093/cid/ciw675. Epub 2016 Oct 6. Clin Infect Dis. 2017. PMID: 27810866
Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome.
Hadj-Rabia S, Brideau G, Al-Sarraj Y, Maroun RC, Figueres ML, Leclerc-Mercier S, Olinger E, Baron S, Chaussain C, Nochy D, Taha RZ, Knebelmann B, Joshi V, Curmi PA, Kambouris M, Vargas-Poussou R, Bodemer C, Devuyst O, Houillier P, El-Shanti H. Hadj-Rabia S, et al. Genet Med. 2018 Feb;20(2):190-201. doi: 10.1038/gim.2017.71. Epub 2017 Aug 3. Genet Med. 2018. PMID: 28771254 Free article.
New splicing pathogenic variant in EBP causing extreme familial variability of Conradi-Hünermann-Happle Syndrome.
Pacault M, Vincent M, Besnard T, Kannengiesser C, Bénéteau C, Barbarot S, Latypova X, Belabbas K, Lamazière A, Winer N, Joubert M, Bézieau S, Isidor B, Mercier S, Nizon M, Leclerc-Mercier S, Hadj-Rabia S, Dufernez F. Pacault M, et al. Eur J Hum Genet. 2018 Dec;26(12):1784-1790. doi: 10.1038/s41431-018-0217-0. Epub 2018 Aug 22. Eur J Hum Genet. 2018. PMID: 30135486 Free PMC article.
75 results