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	1.	Peptide insertions in reverse transcriptase pol gene of human immunodeficiency virus type 1 as a rare cause of persistent antiretroviral therapeutic failure. [electronic resource] by Schneider, Véronique Legoff, Jérôme Bélec, Laurent Delphin, Nathalie Dutreuil, Corinne Kara-Mostefa, Ali Rozenbaum, Willy Nicolas, Jean-Claude Producer: 20040422 In: Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	The spectrum of subclinical Best vitelliform macular dystrophy in subjects with mutations in BEST1 gene. [electronic resource] by Querques, Giuseppe Zerbib, Jennyfer Santacroce, Rossana Margaglione, Maurizio Delphin, Nathalie Querques, Lea Rozet, Jean-Michel Kaplan, Josseline Souied, Eric H Producer: 20110901 In: Investigative ophthalmology & visual science vol. 52 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	A new insertion in the HIV-1 reverse transcriptase gene inducing major resistance to non-nucleoside reverse transcriptase inhibitors. [electronic resource] by Amiel, Corinne Desire, Nathalie Schneider, Veronique Delphin, Nathalie Race, Ester Clavel, Françoise Piolot, Tristan Dam, Elisabeth Rozenbaum, Willy Nicolas, Jean-Claude Producer: 20060613 In: AIDS (London, England) vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II. [electronic resource] by Gerber, Sylvie Hanein, Sylvain Perrault, Isabelle Delphin, Nathalie Aboussair, Nisrine Leowski, Corinne Dufier, Jean-Louis Roche, Olivier Munnich, Arnold Kaplan, Josseline Rozet, Jean-Michel Producer: 20080128 In: Human mutation vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene. [electronic resource] by Querques, Giuseppe Zerbib, Jennyfer Santacroce, Rossana Margaglione, Maurizio Delphin, Nathalie Rozet, Jean-Michel Kaplan, Josseline Martinelli, Domenico Delle Noci, Nicola Soubrane, Gisèle Souied, Eric H Producer: 20100308 In: Molecular vision vol. 15 Availability: No items available. Save to lists Add to cart (remove)
	6.	Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. [electronic resource] by Perrault, Isabelle Delphin, Nathalie Hanein, Sylvain Gerber, Sylvie Dufier, Jean-Louis Roche, Olivier Defoort-Dhellemmes, Sabine Dollfus, Hélène Fazzi, Elisa Munnich, Arnold Kaplan, Josseline Rozet, Jean-Michel Producer: 20070501 In: Human mutation vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Population history and infrequent mutations: how old is a rare mutation? GUCY2D as a worked example. [electronic resource] by Hanein, Sylvain Perrault, Isabelle Gerber, Sylvie Delphin, Nathalie Benezra, David Shalev, Stavit Carmi, Rivka Feingold, Josué Dufier, Jean-Louis Munnich, Arnold Kaplan, Josseline Rozet, Jean-Michel Jeanpierre, Marc Producer: 20080212 In: European journal of human genetics : EJHG vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent? [electronic resource] by Delphin, Nathalie Hanein, Sylvain Taie, Lucas Fares Zanlonghi, Xavier Bonneau, Dominique Moisan, Jean-Paul Boyle, Christine Nitschke, Patrick Pruvost, Solenn Bonnefont, Jean-Paul Munnich, Arnold Roche, Olivier Kaplan, Josseline Rozet, Jean-Michel Producer: 20120613 In: European journal of human genetics : EJHG vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling. [electronic resource] by Pelletier, Valérie Jambou, Marguerite Delphin, Nathalie Zinovieva, Elena Stum, Morgane Gigarel, Nadine Dollfus, Hélène Hamel, Christian Toutain, Annick Dufier, Jean-Louis Roche, Olivier Munnich, Arnold Bonnefont, Jean-Paul Kaplan, Josseline Rozet, Jean-Michel Producer: 20070209 In: Human mutation vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	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)
	11.	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)
	12.	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)
	13.	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)
	14.	Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations. [electronic resource] by Perrault, Isabelle Saunier, Sophie Hanein, Sylvain Filhol, Emilie Bizet, Albane A Collins, Felicity Salih, Mustafa A M Gerber, Sylvie Delphin, Nathalie Bigot, Karine Orssaud, Christophe Silva, Eduardo Baudouin, Véronique Oud, Machteld M Shannon, Nora Le Merrer, Martine Roche, Olivier Pietrement, Christine Goumid, Jamal Baumann, Clarisse Bole-Feysot, Christine Nitschke, Patrick Zahrate, Mohammed Beales, Philip Arts, Heleen H Munnich, Arnold Kaplan, Josseline Antignac, Corinne Cormier-Daire, Valérie Rozet, Jean-Michel Producer: 20120625 In: American journal of human genetics vol. 90 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype. [electronic resource] by Perrault, Isabelle Estrada-Cuzcano, Alejandro Lopez, Irma Kohl, Susanne Li, Shiqiang Testa, Francesco Zekveld-Vroon, Renate Wang, Xia Pomares, Esther Andorf, Jean Aboussair, Nisrine Banfi, Sandro Delphin, Nathalie den Hollander, Anneke I Edelson, Catherine Florijn, Ralph Jean-Pierre, Marc Leowski, Corinne Megarbane, Andre Villanueva, Cristina Flores, Blanca Munnich, Arnold Ren, Huanan Zobor, Ditta Bergen, Arthur Chen, Rui Cremers, Frans P M Gonzalez-Duarte, Roser Koenekoop, Robert K Simonelli, Francesca Stone, Edwin Wissinger, Bernd Zhang, Qingjiong Kaplan, Josseline Rozet, Jean-Michel Producer: 20130701 In: PloS one vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)