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	1.	Genetic architecture of retinoic-acid signaling-associated ocular developmental defects. [electronic resource] by Nedelec, B Rozet, J-M Fares Taie, L Producer: 20190830 In: Human genetics vol. 138 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	[Molecular genetics and prenatal diagnosis]. [electronic resource] by Lyonnet, S Rozet, J M Martin, C Munnich, A Producer: 19921207 In: Pediatrie vol. 47 Availability: No items available. Save to lists Add to cart (remove)
	3.	DsaI polymorphism at the human cone transducin alpha-subunit (GNAT2) detected by PCR. [electronic resource] by Rozet, J M Gerber, S Bonneau, D Munnich, A Kaplan, J Producer: 19941130 In: Human molecular genetics vol. 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	[Rapid demonstration of mutations previously identified in parents at risk of patients with autosomic dominant retinitis pigmentosa]. [electronic resource] by Souied, E Rozet, J M Gerber, S Munnich, A Kaplan, J Producer: 19961017 In: Journal francais d'ophtalmologie vol. 19 Availability: No items available. Save to lists Add to cart (remove)
	5.	Dinucleotide repeat polymorphism at the human recoverin RCVI gene locus on chromosome 17p. [electronic resource] by Dollfus, H Rozet, J M Musarella, M A Kaplan, J Munnich, A Producer: 19931004 In: Human molecular genetics vol. 2 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Physical and genetic localization of the gamma subunit of the cyclic GMP phosphodiesterase on the long arm of chromosome 17 (17q25). [electronic resource] by Dollfus, H Mattei, M G Rozet, J M Delrieu, O Munnich, A Kaplan, J Producer: 19931028 In: Genomics vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Novel intragenic deletions and point mutations of the ornithine transcarbamylase gene in congenital hyperammonemia. [electronic resource] by Calvas, P Ségues, B Rozet, J M Rabier, D Bonnefond, J P Munnich, A Producer: 19990630 In: Human mutation vol. Suppl 1 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Dinucleotide repeat polymorphism at the human protein C inhibitor (PCI) locus. [electronic resource] by Larget-Piet, D Rozet, J M Gerber, S Dollfus, H Munnich, A Kaplan, J Producer: 19940331 In: Human molecular genetics vol. 2 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	[Hereditary macular dystrophies]. [electronic resource] by Rozet, J-M Gerber, S Ducroq, D Hamel, C Dufier, J-L Kaplan, J Producer: 20051026 In: Journal francais d'ophtalmologie vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Human retinal guanylate cyclase (GUC2D) maps to chromosome 17p13.1. [electronic resource] by Oliveira, L Miniou, P Viegas-Pequignot, E Rozet, J M Dollfus, H Pittler, S J Producer: 19950130 In: Genomics vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Evidence of genetic heterogeneity of Leber's congenital amaurosis (LCA) and mapping of LCA1 to chromosome 17p13. [electronic resource] by Camuzat, A Rozet, J M Dollfus, H Gerber, S Perrault, I Weissenbach, J Munnich, A Kaplan, J Producer: 19960712 In: Human genetics vol. 97 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Exclusion of the cone-specific alpha-subunit of the transducin gene in Stargardt's disease. [electronic resource] by Gerber, S Rozet, J M Bonneau, D Souied, E Weissenbach, J Frezal, J Munnich, A Kaplan, J Producer: 19950511 In: Human genetics vol. 95 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Evidence of autosomal dominant Leber congenital amaurosis (LCA) underlain by a CRX heterozygous null allele. [electronic resource] by Perrault, I Hanein, S Gerber, S Barbet, F Dufier, J-L Munnich, A Rozet, J-M Kaplan, J Producer: 20030805 In: Journal of medical genetics vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	[Leber congenital amaurosis: comprehensive survey of genetic heterogeneity. A clinical definition update]. [electronic resource] by Hanein, S Perrault, I Gerber, S Tanguy, G Hamel, C Dufier, J-L Rozet, J-M Kaplan, J Producer: 20051026 In: Journal francais d'ophtalmologie vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus. [electronic resource] by Saugier-Veber, P Munnich, A Bonneau, D Rozet, J M Le Merrer, M Gil, R Boespflug-Tanguy, O Producer: 19940725 In: Nature genetics vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	X linked spastic paraplegia (SPG2): clinical heterogeneity at a single gene locus. [electronic resource] by Bonneau, D Rozet, J M Bulteau, C Berthier, M Mettey, R Gil, R Munnich, A Le Merrer, M Producer: 19930805 In: Journal of medical genetics vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	[First North African observation of Leber congenital amaurosis secondary to CEP290 gene mutation]. [electronic resource] by Aboussair, N Berahou, A Perrault, I Elalaoui, S Chafai Megzari, A Rozet, J M Kaplan, J Sefiani, A Producer: 20100526 In: Journal francais d'ophtalmologie vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. [electronic resource] by Rousseau, F Bonaventure, J Legeai-Mallet, L Pelet, A Rozet, J M Maroteaux, P Le Merrer, M Munnich, A Producer: 19941005 In: Nature vol. 371 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Two novel missense mutations in the peripherin/RDS gene in two unrelated French patients with autosomal dominant retinitis pigmentosa. [electronic resource] by Souied, E H Rozet, J M Gerber, S Dufier, J L Soubrane, G Coscas, G Munnich, A Kaplan, J Producer: 19980918 In: European journal of ophthalmology vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	Mutations of the fibroblast growth factor receptor-3 gene in achondroplasia. [electronic resource] by Rousseau, F Bonaventure, J Legeai-Mallet, L Pelet, A Rozet, J M Maroteaux, P Le Merrer, M Munnich, A Producer: 19961017 In: Hormone research vol. 45 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.