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	1.	Incomplete penetrance of biallelic ALDH1A3 mutations. [electronic resource] by Plaisancié, Julie Brémond-Gignac, Dominique Demeer, Bénédicte Gaston, Véronique Verloes, Alain Fares-Taie, Lucas Gerber, Sylvie Rozet, Jean-Michel Calvas, Patrick Chassaing, Nicolas Producer: 20161213 In: European journal of medical genetics vol. 59 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	TMEM126A is a mitochondrial located mRNA (MLR) protein of the mitochondrial inner membrane. [electronic resource] by Hanein, Sylvain Garcia, Mathilde Fares-Taie, Lucas Serre, Valérie De Keyzer, Yves Delaveau, Thierry Perrault, Isabelle Delphin, Nathalie Gerber, Sylvie Schmitt, Alain Masse, Jean-Marc Munnich, Arnold Kaplan, Josseline Devaux, Frédéric Rozet, Jean-Michel Producer: 20130805 In: Biochimica et biophysica acta vol. 1830 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype. [electronic resource] by Perrault, Isabelle Hanein, Sylvain Gerard, Xavier Delphin, Nathalie Fares-Taie, Lucas Gerber, Sylvie Pelletier, Valérie Mercé, Emilie Dollfus, Hélène Puech, Bernard Defoort-Dhellemmes, Sabine Petersen, Michael D Zafeiriou, Dimitrios Munnich, Arnold Kaplan, Josseline Roche, Olivier Rozet, Jean-Michel Producer: 20101029 In: Human mutation vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	ALDH1A3 mutations cause recessive anophthalmia and microphthalmia. [electronic resource] by Fares-Taie, Lucas Gerber, Sylvie Chassaing, Nicolas Clayton-Smith, Jill Hanein, Sylvain Silva, Eduardo Serey, Margaux Serre, Valérie Gérard, Xavier Baumann, Clarisse Plessis, Ghislaine Demeer, Bénédicte Brétillon, Lionel Bole, Christine Nitschke, Patrick Munnich, Arnold Lyonnet, Stanislas Calvas, Patrick Kaplan, Josseline Ragge, Nicola Rozet, Jean-Michel Producer: 20130404 In: American journal of human genetics vol. 92 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy. [electronic resource] by Hanein, Sylvain Perrault, Isabelle Roche, Olivier Gerber, Sylvie Khadom, Noman Rio, Marlene Boddaert, Nathalie Jean-Pierre, Marc Brahimi, Nora Serre, Valérie Chretien, Dominique Delphin, Nathalie Fares-Taie, Lucas Lachheb, Sahran Rotig, Agnès Meire, Françoise Munnich, Arnold Dufier, Jean-Louis Kaplan, Josseline Rozet, Jean-Michel Producer: 20090424 In: American journal of human genetics vol. 84 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy. [electronic resource] by Perrault, Isabelle Hanein, Sylvain Zanlonghi, Xavier Serre, Valérie Nicouleau, Michael Defoort-Delhemmes, Sabine Delphin, Nathalie Fares-Taie, Lucas Gerber, Sylvie Xerri, Olivia Edelson, Catherine Goldenberg, Alice Duncombe, Alice Le Meur, Gylène Hamel, Christian Silva, Eduardo Nitschke, Patrick Calvas, Patrick Munnich, Arnold Roche, Olivier Dollfus, Hélène Kaplan, Josseline Rozet, Jean-Michel Producer: 20121119 In: Nature genetics vol. 44 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Submicroscopic deletions at 13q32.1 cause congenital microcoria. [electronic resource] by Fares-Taie, Lucas Gerber, Sylvie Tawara, Akihiko Ramirez-Miranda, Arturo Douet, Jean-Yves Verdin, Hannah Guilloux, Antoine Zenteno, Juan C Kondo, Hiroyuki Moisset, Hugo Passet, Bruno Yamamoto, Ken Iwai, Masaru Tanaka, Toshihiro Nakamura, Yusuke Kimura, Wataru Bole-Feysot, Christine Vilotte, Marthe Odent, Sylvie Vilotte, Jean-Luc Munnich, Arnold Regnier, Alain Chassaing, Nicolas De Baere, Elfride Raymond-Letron, Isabelle Kaplan, Josseline Calvas, Patrick Roche, Olivier Rozet, Jean-Michel Producer: 20150529 In: American journal of human genetics vol. 96 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome. [electronic resource] by Gerber, Sylvie Alzayady, Kamil J Burglen, Lydie Brémond-Gignac, Dominique Marchesin, Valentina Roche, Olivier Rio, Marlène Funalot, Benoit Calmon, Raphaël Durr, Alexandra Gil-da-Silva-Lopes, Vera Lucia Ribeiro Bittar, Maria Fernanda Orssaud, Christophe Héron, Bénédicte Ayoub, Edward Berquin, Patrick Bahi-Buisson, Nadia Bole, Christine Masson, Cécile Munnich, Arnold Simons, Matias Delous, Marion Dollfus, Helene Boddaert, Nathalie Lyonnet, Stanislas Kaplan, Josseline Calvas, Patrick Yule, David I Rozet, Jean-Michel Fares Taie, Lucas Producer: 20170515 In: American journal of human genetics vol. 98 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies. [electronic resource] by Angebault, Claire Guichet, Pierre-Olivier Talmat-Amar, Yasmina Charif, Majida Gerber, Sylvie Fares-Taie, Lucas Gueguen, Naig Halloy, François Moore, David Amati-Bonneau, Patrizia Manes, Gael Hebrard, Maxime Bocquet, Béatrice Quiles, Mélanie Piro-Mégy, Camille Teigell, Marisa Delettre, Cécile Rossel, Mireille Meunier, Isabelle Preising, Markus Lorenz, Birgit Carelli, Valerio Chinnery, Patrick F Yu-Wai-Man, Patrick Kaplan, Josseline Roubertie, Agathe Barakat, Abdelhamid Bonneau, Dominique Reynier, Pascal Rozet, Jean-Michel Bomont, Pascale Hamel, Christian P Lenaers, Guy Producer: 20160225 In: American journal of human genetics vol. 97 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)