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	1.	Prader-Willi and Angelman syndromes: genetic counseling. [electronic resource] by Camprubí, Cristina Coll, Maria Dolors Gabau, Elisabeth Guitart, Míriam Producer: 20100224 In: European journal of human genetics : EJHG vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Composts as alternative to inorganic fertilization for cereal crops. [electronic resource] by Hernandez, Teresa Chocano, Carmen Coll, Maria Dolores Garcia, Carlos Producer: 20200302 In: Environmental science and pollution research international vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Antisense oligonucleotide treatment for a pseudoexon-generating mutation in the NPC1 gene causing Niemann-Pick type C disease. [electronic resource] by Rodríguez-Pascau, Laura Coll, Maria Josep Vilageliu, Lluïsa Grinberg, Daniel Producer: 20100225 In: Human mutation vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Generation of a human neuronal stable cell model for niemann-pick C disease by RNA interference. [electronic resource] by Rodríguez-Pascau, Laura Coll, Maria Josep Casas, Josefina Vilageliu, Lluïsa Grinberg, Daniel Producer: 20130225 In: JIMD reports vol. 4 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Nonsense-mediated mRNA decay process in nine alleles of Niemann-Pick type C patients from Spain. [electronic resource] by Macías-Vidal, Judit Gort, Laura Lluch, Montse Pineda, Mercè Coll, Maria Josep Producer: 20090527 In: Molecular genetics and metabolism vol. 97 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	First insight into the Neolithic subsistence economy in the north-east Iberian Peninsula: paleodietary reconstruction through stable isotopes. [electronic resource] by Fontanals-Coll, Maria Eulàlia Subirà, M Díaz-Zorita Bonilla, Marta Gibaja, Juan F Producer: 20170623 In: American journal of physical anthropology vol. 162 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Natural history of Sanfilippo syndrome in Spain. [electronic resource] by Delgadillo, Verónica O'Callaghan, Maria del Mar Gort, Laura Coll, Maria Josep Pineda, Mercedes Producer: 20140717 In: Orphanet journal of rare diseases vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies. [electronic resource] by Santamaria, Raül Chabás, Amparo Coll, Maria Josep Miranda, Clara Sa Vilageliu, Lluïsa Grinberg, Daniel Producer: 20061002 In: Human mutation vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Treatment effect of coenzyme Q(10) and an antioxidant cocktail in fibroblasts of patients with Sanfilippo disease. [electronic resource] by Matalonga, Leslie Arias, Angela Coll, María Josep Garcia-Villoria, Judit Gort, Laura Ribes, Antonia Producer: 20150220 In: Journal of inherited metabolic disease vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	[New mutation in a young woman diagnosed with Niemann-Pick disease type C]. [electronic resource] by Lario, Ana de Miguel, Carlos Ojeda, Emilio Gil, Santiago Coll, María J Alfonso, Pilar Producer: 20170719 In: Medicina clinica vol. 146 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Molecular analysis in two beta-mannosidosis patients: description of a new adult case. [electronic resource] by Gort, Laura Duque, Joana Fabeiro, José M Zulaica, Ander Coll, Maria Josep Chabás, Amparo Producer: 20070123 In: Molecular genetics and metabolism vol. 89 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	[Prader Willi syndrome patients: study of 77 patients]. [electronic resource] by Poyatos, David Camprubí, Cristina Gabau, Elisabeth Nosas, Ramón Villatoro, Sergi Coll, María Dolores Guitart, Miriam Producer: 20100203 In: Medicina clinica vol. 133 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	The proteasome inhibitor bortezomib reduced cholesterol accumulation in fibroblasts from Niemann-Pick type C patients carrying missense mutations. [electronic resource] by Macías-Vidal, Judit Girós, Marisa Guerrero, Martina Gascón, Pere Serratosa, Joan Bachs, Oriol Coll, Maria Josep Producer: 20141203 In: The FEBS journal vol. 281 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Effectiveness of an interactive virtual telerehabilitation system in patients after total knee arthoplasty: a randomized controlled trial. [electronic resource] by Piqueras, Mercè Marco, Ester Coll, Maria Escalada, Ferran Ballester, Alex Cinca, Carme Belmonte, Roser Muniesa, Josep M Producer: 20130709 In: Journal of rehabilitation medicine vol. 45 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Identification of the molecular defects in Spanish and Argentinian mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) patients, including 9 novel mutations. [electronic resource] by Garrido, Elena Chabás, Amparo Coll, Maria Josep Blanco, Mariana Domínguez, Carmen Grinberg, Daniel Vilageliu, Lluïsa Cormand, Bru Producer: 20071129 In: Molecular genetics and metabolism vol. 92 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	Diffuse hair loss in Addison disease: a reason for X-linked adrenoleukodystrophy screening. [electronic resource] by Lecumberri, Beatriz Girós, Maria Lluisa Coll, Maria Josep Marco, Amparo Casado, Mariano Pallardo, Luis Felipe Pardo, Javier Producer: 20120605 In: Journal of the American Academy of Dermatology vol. 66 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Novel human pathological mutations. Gene symbol: ABCD1. Disease: X-linked adrenoleukodystrophy. [electronic resource] by Amorosi, Cyntia Anabel Treslova, Helena Dodelson de Kremer, Raquel Coll, María José Dvoráková, Lenka Oller Ramírez, Ana María Producer: 20110506 In: Human genetics vol. 127 Availability: No items available. Save to lists Add to cart (remove)
	18.	Novel human pathological mutations. Gene symbol: ABCD1. Disease: X-linked adrenoleukodystrophy. [electronic resource] by Amorosi, Cyntia Anabel Treslova, Helena Dodelson de Kremer, Raquel Coll, María José Dvoráková, Lenka Oller Ramírez, Ana María Producer: 20110506 In: Human genetics vol. 127 Availability: No items available. Save to lists Add to cart (remove)
	19.	Gene symbol: IDS. Disease: Mucopolysaccharidosis II. [electronic resource] by Oller Ramirez, Ana María Coll, María José Chabás, Amparo Azar, Nydia Beatríz Ghio, Addy Vanina Kremer, Raquel Dodelson Producer: 20101124 In: Human genetics vol. 123 Availability: No items available. Save to lists Add to cart (remove)
	20.	Gene symbol: IDS. Disease: Hunter syndrome. [electronic resource] by Oller Ramirez, Ana María Coll, María José Chabás, Amparo Azar, Nydia Beatríz Ghio, Addy Vanina Kremer, Raquel Dodelson Producer: 20101124 In: Human genetics vol. 123 Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 45 results.