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	1.	Free-access copy-number variant detection tools for targeted next-generation sequencing data. [electronic resource] by Roca, Iria González-Castro, Lorena Fernández, Helena Couce, Mª Luz Fernández-Marmiesse, Ana Producer: 20200302 In: Mutation research. Reviews in mutation research vol. 779 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	PattRec: An easy-to-use CNV detection tool optimized for targeted NGS assays with diagnostic purposes. [electronic resource] by Roca, Iria González-Castro, Lorena Maynou, Joan Palacios, Lourdes Fernández, Helena Couce, Mª Luz Fernández-Marmiesse, Ana Producer: 20210104 In: Genomics vol. 112 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Inborn errors of metabolism in a neonatology unit: impact and long-term results. [electronic resource] by Couce, Ma Luz Baña, Ana Bóveda, Ma Dolores Pérez-Muñuzuri, Alejandro Fernández-Lorenzo, José Ramón Fraga, José Ma Producer: 20120125 In: Pediatrics international : official journal of the Japan Pediatric Society vol. 53 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Molecular analysis of mucopolysaccharidosis IVA (Morquio A) in Spain. [electronic resource] by Pajares, Sonia Alcalde, Carlos Couce, Ma Luz Del Toro, Mireia González-Meneses, Antonio Guillén, Encarna Pineda, Mercè Pintos, Guillem Gort, Laura Coll, Ma José Producer: 20120918 In: Molecular genetics and metabolism vol. 106 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	A novel missense mutation in GRIN2A causes a nonepileptic neurodevelopmental disorder. [electronic resource] by Fernández-Marmiesse, Ana Kusumoto, Hirofumi Rekarte, Saray Roca, Iria Zhang, Jin Myers, Scott J Traynelis, Stephen F Couce, Mª Luz Gutierrez-Solana, Luis Yuan, Hongjie Producer: 20190903 In: Movement disorders : official journal of the Movement Disorder Society vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Evaluation and long-term follow-up of infants with inborn errors of metabolism identified in an expanded screening programme. [electronic resource] by Couce, Ma Luz Castiñeiras, Daisy E Bóveda, Ma Dolores Baña, Ana Cocho, José A Iglesias, Agustín J Colón, Cristobal Alonso-Fernández, José R Fraga, José M Producer: 20120315 In: Molecular genetics and metabolism vol. 104 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Glutaric aciduria type I: outcome of patients with early- versus late-diagnosis. [electronic resource] by Couce, Ma Luz López-Suárez, Olalla Bóveda, Ma Dolores Castiñeiras, Daisy E Cocho, José A García-Villoria, Judith Castro-Gago, Manuel Fraga, José Ma Ribes, Antonia Producer: 20140123 In: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients. [electronic resource] by Fernández-Marmiesse, Ana Roca, Iria Díaz-Flores, Felícitas Cantarín, Verónica Pérez-Poyato, Mª Socorro Fontalba, Ana Laranjeira, Francisco Quintans, Sofia Moldovan, Oana Felgueroso, Blanca Rodríguez-Pedreira, Montserrat Simón, Rogelio Camacho, Ana Quijada, Pilar Ibanez-Mico, Salvador Domingno, Mª Rosario Benito, Carmen Calvo, Rocío Pérez-Cejas, Antonia Carrasco, Mª Llanos Ramos, Feliciano Couce, Mª Luz Ruiz-Falcó, Mª Luz Gutierrez-Solana, Luis Martínez-Atienza, Margarita Publication details: Frontiers in neuroscience 2019 In: Frontiers in neuroscience vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)