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	1.	The R608del mutation in the acid sphingomyelinase gene (SMPD1) is the most prevalent among patients from Gran Canaria Island with Niemann-Pick disease type B. [electronic resource] by Fernández-Burriel, M Peña, L Ramos, J C Cabrera, J C Marti, M Rodríguez-Quiñones, F Chabás, A Producer: 20031112 In: Clinical genetics vol. 63 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Detection of the fragile X syndrome protein for the evaluation of FMR1 intermediate alleles. [electronic resource] by Castellví-Bel, S Fernández-Burriel, M Rifé, M Jiménez, D Mallolas, J Sánchez, A Ramos, F Milà, M Producer: 20001027 In: Human genetics vol. 107 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	[Familial Pitt-Rogers-Danks: two new cases]. [electronic resource] by Cabrera López, J C Marti Herrero, M Fernández Burriel, M Toledo, L de Andrés-Cofiño, R Orera, M A Producer: 20030804 In: Revista de neurologia vol. 33 Availability: No items available. Save to lists Add to cart (remove)
	4.	[Paroxysmal stereotypy-tic-dystonia syndrome]. [electronic resource] by Cabrera-López, J C Martí-Herrero, M Fernández-Burriel, M Toledo-Bravo de Laguna, L Domínguez-Ramírez, S Fortea-Sevilla, S Producer: 20040217 In: Revista de neurologia vol. 36 Availability: No items available. Save to lists Add to cart (remove)
	5.	DFNA49, a novel locus for autosomal dominant non-syndromic hearing loss, maps proximal to DFNA7/DFNM1 region on chromosome 1q21-q23. [electronic resource] by Moreno-Pelayo, M A Modamio-Høybjør, S Mencía, A del Castillo, I Chardenoux, S Fernández-Burriel, M Lathrop, M Petit, C Moreno, F Producer: 20040223 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)
	6.	[Molecular diagnosis of adult dominant polycystic kidney disease in the Canary Islands]. [electronic resource] by Torres, M J Rodríguez Pérez, J C Hernández Socorro, C R Anabitarte, A Caballero, A Vázquez, C Fernández-Burriel, M Pérez Borges, P Palop, L Producer: 20070412 In: Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia vol. 26 Availability: No items available. Save to lists Add to cart (remove)
	7.	Screening for nuclear genetic defects in the ATP synthase-associated genes TMEM70, ATP12 and ATP5E in patients with 3-methylglutaconic aciduria. [electronic resource] by Tort, F Del Toro, M Lissens, W Montoya, J Fernàndez-Burriel, M Font, A Buján, N Navarro-Sastre, A López-Gallardo, E Arranz, J A Riudor, E Briones, P Ribes, A Producer: 20111228 In: Clinical genetics vol. 80 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature. [electronic resource] by Cañueto, J Girós, M Ciria, S Pi-Castán, G Artigas, M García-Dorado, J García-Patos, V Virós, A Vendrell, T Torrelo, A Hernández-Martín, A Martín-Hernández, E Garcia-Silva, M T Fernández-Burriel, M Rosell, J Tejedor, M Martínez, F Valero, J García, J L Sánchez-Tapia, E M Unamuno, P González-Sarmiento, R Producer: 20120920 In: The British journal of dermatology vol. 166 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)