Bartoloni, Lucia

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Journal Article

Al-Jawahiri, Reem; Foroutan, Aidin; Kerkhof, Jennifer; McConkey, Haley; Levy, Michael; Haghshenas, Sadegheh; Rooney, Kathleen; Turner, Jasmin; Shears, Debbie; Holder, Muriel; Lefroy, Henrietta; Castle, Bruce; Reis, Linda M; Semina, Elena V; Lachlan, Katherine; Chandler, Kate; Wright, Thomas; Clayton-Smith, Jill; Hug, Franziska Phan; Pitteloud, Nelly; ... (2022). SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile. Genetics in medicine, 24(6), pp. 1261-1273. Elsevier 10.1016/j.gim.2022.02.013

Makrythanasis, Periklis; Kapranov, Philipp; Bartoloni, Lucia; Reymond, Alexandre; Deutsch, Samuel; Guigo, Roderic; Denoeud, France; Drenkow, Jorg; Rossier, Colette; Ariani, Francesca; Capra, Valeria; Excoffier, Laurent; Renieri, Alessandra; Gingeras, Thomas R.; Antonarakis, Stylianos E. (2009). Variation in Novel Exons (RACEfrags) of the MECP2 Gene in Rett Syndrome Patients and Controls. Human mutation, 30(9), E866 - E879. Hoboken, N.J.: Wiley-Blackwell 10.1002/humu.21073

Failly, Mike; Saitta, Alexandra; Muñoz, Analia; Falconnet, Emilie; Rossier, Colette; Santamaria, Francesca; de Santi, Maria Margherita; Lazor, Romain; DeLozier-Blanchet, Celia D; Bartoloni, Lucia; Blouin, Jean-Louis (2008). DNAI1 mutations explain only 2% of primary ciliary dykinesia. Respiration, 76(2), pp. 198-204. Basel: Karger 10.1159/000128567

Bottani, Armand; Chelly, Jamel; de Brouwer, Arjan P M; Pardo, Bruno; Barker, Mandy; Capra, Valeria; Bartoloni, Lucia; Antonarakis, Stylianos E; Conrad, Bernard (2007). Sequence variation in ultraconserved and highly conserved elements does not cause X-linked mental retardation. American journal of medical genetics. Part A, 143A(8), pp. 888-90. Hoboken, N.J.: Wiley-Liss 10.1002/ajmg.a.31651

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