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Further delineation of eye manifestations in homozygous 15q13.3 microdeletions including TRPM1: A differential diagnosis of ceroid lipofuscinosis
Further delineation of eye manifestations in homozygous 15q13.3 microdeletions including TRPM1: A differential diagnosis of ceroid lipofuscinosis
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Further delineation of eye manifestations in homozygous 15q13.3 microdeletions including TRPM1: A differential diagnosis of ceroid lipofuscinosis

Masurel-Paulet, Alice ; Drumare, Isabelle ; Holder, Muriel ; Cuisset, Jean-Marie ; Vallée, Louis ; Defoort, Sabine ; Bourgois, Béatrice ; Pernes, Philippe ; Cuvellier, Jean-Christophe ; Huet, Frédéric ; Chehadeh, Salima El ; Thevenon, Julien ; Callier, Patrick ; Thauvin, Christel ; Faivre, Laurence ; Andrieux, Joris

American journal of medical genetics. Part A, 2014-06, Vol.164A (6), p.1537-1544 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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2
Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature
Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature
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Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature

Nizon, Mathilde ; Andrieux, Joris ; Rooryck, Caroline ; de Blois, Marie-Christine ; Bourel-Ponchel, Emilie ; Bourgois, Béatrice ; Boute, Odile ; David, Albert ; Delobel, Bruno ; Duban-Bedu, Bénédicte ; Giuliano, Fabienne ; Goldenberg, Alice ; Grotto, Sarah ; Héron, Delphine ; Karmous-Benailly, Houda ; Keren, Boris ; Lacombe, Didier ; Lapierre, Jean-Michel ; Le Caignec, Cédric ; Le Galloudec, Eric ; Le Merrer, Martine ; Le Moing, Anne-Gaëlle ; Mathieu-Dramard, Michèle ; Nusbaum, Sylvie ; Pichon, Olivier ; Pinson, Lucile ; Raoul, Odile ; Rio, Marlène ; Romana, Serge ; Roubertie, Agnès ; Colleaux, Laurence ; Turleau, Catherine ; Vekemans, Michel ; Nabbout, Rima ; Malan, Valérie

American journal of medical genetics. Part A, 2015-01, Vol.167A (1), p.111-122 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

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