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	1.	Familial hypertrophic cardiomyopathy associated with a new mutation in gene MYBPC3. [electronic resource] by Aurensanz Clemente, Esther Ayerza Casas, Ariadna García Lasheras, Cecilia Ramos Fuentes, Feliciano Bueno Martínez, Ines Pelegrín Díaz, Juana Ruiz Frontera, Pablo Montserrat Iglesias, Lorenzo Publication details: Clinical case reports Mar 2017 In: Clinical case reports vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	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)
	3.	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)