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	1.	Is mortalin a candidate gene for T1DM ? [electronic resource] by Johannesen, Jesper Pie, Angeles Karlsen, Allan Ertmann Larsen, Zenia Marian Jensen, Allan Vissing, Henrik Kristiansen, Ole Peter Pociot, Flemming Nerup, Jørn Producer: 20050512 In: Autoimmunity vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Molecular genetics of HMG-CoA lyase deficiency. [electronic resource] by Pié, Juan López-Viñas, Eduardo Puisac, Beatriz Menao, Sebastián Pié, Angeles Casale, Cesar Ramos, Feliciano J Hegardt, Fausto G Gómez-Puertas, Paulino Casals, Núria Producer: 20071218 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)
	3.	Analysis of aberrant splicing and nonsense-mediated decay of the stop codon mutations c.109G>T and c.504_505delCT in 7 patients with HMG-CoA lyase deficiency. [electronic resource] by Puisac, Beatriz Teresa-Rodrigo, María Esperanza Arnedo, María Gil-Rodríguez, María Concepción Pérez-Cerdá, Celia Ribes, Antonia Pié, Angeles Bueno, Gloria Gómez-Puertas, Paulino Pié, Juan Producer: 20130827 In: Molecular genetics and metabolism vol. 108 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Skipping of exon 2 and exons 2 plus 3 of HMG-CoA lyase (HL) gene produces the loss of beta sheets 1 and 2 in the recently proposed (beta-alpha)8 TIM barrel model of HL. [electronic resource] by Puisac, Beatriz López-Viñas, Eduardo Moreno, Susana Mir, Cecilia Pérez-Cerdá, Celia Menao, Sebastián Lluch, Dolores Pié, Angeles Gómez-Puertas, Paulino Casals, Nuria Ugarte, Magdalena Hegardt, Faustog Pié, Juan Producer: 20050707 In: Biophysical chemistry vol. 115 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Characterization of splice variants of the genes encoding human mitochondrial HMG-CoA lyase and HMG-CoA synthase, the main enzymes of the ketogenesis pathway. [electronic resource] by Puisac, Beatriz Ramos, Mónica Arnedo, María Menao, Sebastián Gil-Rodríguez, María Concepción Teresa-Rodrigo, María Esperanza Pié, Angeles de Karam, Juan Carlos Wesselink, Jan-Jaap Giménez, Ignacio Ramos, Feliciano J Casals, Nuria Gómez-Puertas, Paulino Hegardt, Fausto G Pié, Juan Producer: 20120628 In: Molecular biology reports vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria. [electronic resource] by Menao, Sebastián López-Viñas, Eduardo Mir, Cecilia Puisac, Beatriz Gratacós, Esther Arnedo, María Carrasco, Patricia Moreno, Susana Ramos, Mónica Gil, María Concepción Pié, Angeles Ribes, Antonia Pérez-Cerda, Celia Ugarte, Magdalena Clayton, Peter T Korman, Stanley H Serra, Dolors Asins, Guillermina Ramos, Feliciano J Gómez-Puertas, Paulino Hegardt, Fausto G Casals, Nuria Pié, Juan Producer: 20090528 In: Human mutation vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes. [electronic resource] by Gil-Rodríguez, María Concepción Deardorff, Matthew A Ansari, Morad Tan, Christopher A Parenti, Ilaria Baquero-Montoya, Carolina Ousager, Lilian B Puisac, Beatriz Hernández-Marcos, María Teresa-Rodrigo, María Esperanza Marcos-Alcalde, Iñigo Wesselink, Jan-Jaap Lusa-Bernal, Silvia Bijlsma, Emilia K Braunholz, Diana Bueno-Martinez, Inés Clark, Dinah Cooper, Nicola S Curry, Cynthia J Fisher, Richard Fryer, Alan Ganesh, Jaya Gervasini, Cristina Gillessen-Kaesbach, Gabriele Guo, Yiran Hakonarson, Hakon Hopkin, Robert J Kaur, Maninder Keating, Brendan J Kibaek, María Kinning, Esther Kleefstra, Tjitske Kline, Antonie D Kuchinskaya, Ekaterina Larizza, Lidia Li, Yun R Liu, Xuanzhu Mariani, Milena Picker, Jonathan D Pié, Ángeles Pozojevic, Jelena Queralt, Ethel Richer, Julie Roeder, Elizabeth Sinha, Anubha Scott, Richard H So, Joyce Wusik, Katherine A Wilson, Louise Zhang, Jianguo Gómez-Puertas, Paulino Casale, César H Ström, Lena Selicorni, Angelo Ramos, Feliciano J Jackson, Laird G Krantz, Ian D Das, Soma Hennekam, Raoul C M Kaiser, Frank J FitzPatrick, David R Pié, Juan Producer: 20151217 In: Human mutation vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)