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	1.	Cornelia de Lange syndrome: Congenital heart disease in 149 patients. [electronic resource] by Ayerza Casas, Ariadna Puisac Uriol, Beatriz Teresa Rodrigo, María Esperanza Hernández Marcos, María Ramos Fuentes, Feliciano J Pie Juste, Juan Producer: 20180611 In: Medicina clinica vol. 149 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Human Mitochondrial HMG-CoA Synthase Deficiency: Role of Enzyme Dimerization Surface and Characterization of Three New Patients. [electronic resource] by Puisac, Beatriz Marcos-Alcalde, Iñigo Hernández-Marcos, María Tobajas Morlana, Pilar Levtova, Alina Schwahn, Bernd C DeLaet, Corinne Lace, Baiba Gómez-Puertas, Paulino Pié, Juan Producer: 20180905 In: International journal of molecular sciences vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Two-step ATP-driven opening of cohesin head. [electronic resource] by Marcos-Alcalde, Íñigo Mendieta-Moreno, Jesús I Puisac, Beatriz Gil-Rodríguez, María Concepción Hernández-Marcos, María Soler-Polo, Diego Ramos, Feliciano J Ortega, José Pié, Juan Mendieta, Jesús Gómez-Puertas, Paulino Producer: 20190225 In: Scientific reports vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Special cases in Cornelia de Lange syndrome: The Spanish experience. [electronic resource] by Pié, Juan Puisac, Beatriz Hernández-Marcos, Maria Teresa-Rodrigo, Maria Esperanza Gil-Rodríguez, Maria Baquero-Montoya, Carolina Ramos-Cáceres, Maria Bernal, Maria Ayerza-Casas, Ariadna Bueno, Inés Gómez-Puertas, Paulino Ramos, Feliciano J Producer: 20171003 In: American journal of medical genetics. Part C, Seminars in medical genetics vol. 172 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	mRNA Quantification of NIPBL Isoforms A and B in Adult and Fetal Human Tissues, and a Potentially Pathological Variant Affecting Only Isoform A in Two Patients with Cornelia de Lange Syndrome. [electronic resource] by Puisac, Beatriz Teresa-Rodrigo, María-Esperanza Hernández-Marcos, María Baquero-Montoya, Carolina Gil-Rodríguez, María-Concepción Visnes, Torkild Bot, Christopher Gómez-Puertas, Paulino Kaiser, Frank J Ramos, Feliciano J Ström, Lena Pié, Juan Producer: 20170428 In: International journal of molecular sciences vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	New case of mitochondrial HMG-CoA synthase deficiency. Functional analysis of eight mutations. [electronic resource] by Ramos, Mónica Menao, Sebastián Arnedo, María Puisac, Beatriz Gil-Rodríguez, María Concepción Teresa-Rodrigo, María Esperanza Hernández-Marcos, María Pierre, Germaine Ramaswami, Uma Baquero-Montoya, Carolina Bueno, Gloria Casale, Cesar Hegardt, Fausto G Gómez-Puertas, Paulino Pié, Juan Producer: 20140306 In: European journal of medical genetics vol. 56 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome. [electronic resource] by Teresa-Rodrigo, María E Eckhold, Juliane Puisac, Beatriz Pozojevic, Jelena Parenti, Ilaria Baquero-Montoya, Carolina Gil-Rodríguez, María C Braunholz, Diana Dalski, Andreas Hernández-Marcos, María Ayerza, Ariadna Bernal, María L Ramos, Feliciano J Wieczorek, Dagmar Gillessen-Kaesbach, Gabriele Pié, Juan Kaiser, Frank J Producer: 20161213 In: BioMed research international vol. 2016 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Functional characterization of NIPBL physiological splice variants and eight splicing mutations in patients with Cornelia de Lange syndrome. [electronic resource] by Teresa-Rodrigo, María E Eckhold, Juliane Puisac, Beatriz Dalski, Andreas Gil-Rodríguez, María C Braunholz, Diana Baquero, Carolina Hernández-Marcos, María de Karam, Juan C Ciero, Milagros Santos-Simarro, Fernando Lapunzina, Pablo Wierzba, Jolanta Casale, César H Ramos, Feliciano J Gillessen-Kaesbach, Gabriele Kaiser, Frank J Pié, Juan Producer: 20150127 In: International journal of molecular sciences vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation. [electronic resource] by Baquero-Montoya, Carolina Gil-Rodríguez, María-Concepción Hernández-Marcos, María Teresa-Rodrigo, María-Esperanza Vicente-Gabas, Alicia Bernal, María-Luisa Casale, Cesar-Horacio Bueno-Lozano, Gloria Bueno-Martínez, Inés Queralt, Ethel Villa, Olaya Hernando-Davalillo, Cristina Armengol, Lluís Gómez-Puertas, Paulino Puisac, Beatriz Selicorni, Angelo Ramos, Feliciano J Pié, Juan Producer: 20150706 In: European journal of medical genetics vol. 57 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	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)