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	21.	Complete abolition of the retinal-specific guanylyl cyclase (retGC-1) catalytic ability consistently leads to leber congenital amaurosis (LCA). [electronic resource] by Rozet, J M Perrault, I Gerber, S Hanein, S Barbet, F Ducroq, D Souied, E Munnich, A Kaplan, J Producer: 20010510 In: Investigative ophthalmology & visual science vol. 42 Availability: No items available. Save to lists Add to cart (remove)
	22.	Evidence for a fourth locus in Usher syndrome type I. [electronic resource] by Gerber, S Larget-Piet, D Rozet, J M Bonneau, D Mathieu, M Der Kaloustian, V Munnich, A Kaplan, J Producer: 19961205 In: Journal of medical genetics vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	23.	A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3. [electronic resource] by Cabot, A Rozet, J M Gerber, S Perrault, I Ducroq, D Smahi, A Souied, E Munnich, A Kaplan, J Producer: 20000405 In: American journal of human genetics vol. 64 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	24.	Partial duplication [dup. TCAC (178)] and novel point mutations (T125M, G188R, A209V, and H302L) of the ornithine transcarbamylase gene in congenital hyperammonemia. [electronic resource] by Gilbert-Dussardier, B Segues, B Rozet, J M Rabier, D Calvas, P de Lumley, L Bonnefond, J P Munnich, A Producer: 19961120 In: Human mutation vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	25.	Dominant X linked retinitis pigmentosa is frequently accounted for by truncating mutations in exon ORF15 of the RPGR gene. [electronic resource] by Rozet, J-M Perrault, I Gigarel, N Souied, E Ghazi, I Gerber, S Dufier, J-L Munnich, A Kaplan, J Producer: 20020517 In: Journal of medical genetics vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	26.	Structure and refinement of the physical mapping of the gamma- glutamylcysteine ligase regulatory subunit (GLCLR) gene to chromosome 1p22.1 within the critically deleted region of human malignant mesothelioma. [electronic resource] by Rozet, J M Gerber, S Perrault, I Calvas, P Souied, E Châtelin, S Molina-Gomez, D Munnich, A Kaplan, J Producer: 19981106 In: Cytogenetics and cell genetics vol. 82 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	27.	ABCR gene analysis in familial exudative age-related macular degeneration. [electronic resource] by Souied, E H Ducroq, D Rozet, J M Gerber, S Perrault, I Munnich, A Coscas, G Soubrane, G Kaplan, J Producer: 20000114 In: Investigative ophthalmology & visual science vol. 41 Availability: No items available. Save to lists Add to cart (remove)
	28.	No evidence of genetic heterogeneity in dominant optic atrophy. [electronic resource] by Bonneau, D Souied, E Gerber, S Rozet, J M D'Haens, E Journel, H Plessis, G Weissenbach, J Munnich, A Kaplan, J Producer: 19961205 In: Journal of medical genetics vol. 32 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	29.	A retGC-1 mutation in autosomal dominant cone-rod dystrophy. [electronic resource] by Perrault, I Rozet, J M Gerber, S Kelsell, R E Souied, E Cabot, A Hunt, D M Munnich, A Kaplan, J Producer: 19981224 In: American journal of human genetics vol. 63 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	30.	Machado-Joseph disease is genetically different from Holguin dominant ataxia (SCA2). [electronic resource] by Silveira, I Manaia, A Melki, J Magariño, C Lunkes, A Hernandez, A Gispert, S Burlet, P Rozet, J M Coutinho, P Producer: 19931229 In: Genomics vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	31.	Site specific screening for point mutations in ornithine transcarbamylase deficiency. [electronic resource] by Feldmann, D Rozet, J M Pelet, A Hentzen, D Briand, P Hubert, P Largilliere, C Rabier, D Farriaux, J P Munnich, A Producer: 19920828 In: Journal of medical genetics vol. 29 Availability: No items available. Save to lists Add to cart (remove)
	32.	A gene for late-onset fundus flavimaculatus with macular dystrophy maps to chromosome 1p13. [electronic resource] by Gerber, S Rozet, J M Bonneau, D Souied, E Camuzat, A Dufier, J L Amalric, P Weissenbach, J Munnich, A Kaplan, J Producer: 19950309 In: American journal of human genetics vol. 56 Availability: No items available. Save to lists Add to cart (remove)
	33.	Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus. [electronic resource] by Rozet, J M Gerber, S Ghazi, I Perrault, I Ducroq, D Souied, E Cabot, A Dufier, J L Munnich, A Kaplan, J Producer: 20000725 In: Journal of medical genetics vol. 36 Availability: No items available. Save to lists Add to cart (remove)
	34.	Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies. [electronic resource] by Rozet, J M Gerber, S Souied, E Perrault, I Châtelin, S Ghazi, I Leowski, C Dufier, J L Munnich, A Kaplan, J Producer: 19981104 In: European journal of human genetics : EJHG vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	35.	Leber congenital amaurosis. [electronic resource] by Perrault, I Rozet, J M Gerber, S Ghazi, I Leowski, C Ducroq, D Souied, E Dufier, J L Munnich, A Kaplan, J Producer: 20000208 In: Molecular genetics and metabolism vol. 68 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	36.	Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease. [electronic resource] by Gerber, S Rozet, J M van de Pol, T J Hoyng, C B Munnich, A Blankenagel, A Kaplan, J Cremers, F P Producer: 19980424 In: Genomics vol. 48 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	37.	Five novel missense mutations of the rhodopsin gene in autosomal dominant retinitis pigmentosa. [electronic resource] by Souied, E Gerber, S Rozet, J M Bonneau, D Dufier, J L Ghazi, I Philip, N Soubrane, G Coscas, G Munnich, A Producer: 19950110 In: Human molecular genetics vol. 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	38.	A gene for Usher syndrome type I (USH1A) maps to chromosome 14q. [electronic resource] by Kaplan, J Gerber, S Bonneau, D Rozet, J M Delrieu, O Briard, M L Dollfus, H Ghazi, I Dufier, J L Frézal, J Producer: 19930210 In: Genomics vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	39.	A gene for Leber's congenital amaurosis maps to chromosome 17p. [electronic resource] by Camuzat, A Dollfus, H Rozet, J M Gerber, S Bonneau, D Bonnemaison, M Briard, M L Dufier, J L Ghazi, I Leowski, C Producer: 19951215 In: Human molecular genetics vol. 4 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	40.	Genetic heterogeneity of Usher syndrome type 1 in French families. [electronic resource] by Larget-Piet, D Gerber, S Bonneau, D Rozet, J M Marc, S Ghazi, I Dufier, J L David, A Bitoun, P Weissenbach, J Producer: 19941019 In: Genomics vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 57 results.