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	1.	Towards the targeted management of Chediak-Higashi syndrome. [electronic resource] by Lozano, Maria L Rivera, Jose Sánchez-Guiu, Isabel Vicente, Vicente Producer: 20150330 In: Orphanet journal of rare diseases vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Microsatellite markers as a rapid approach for autozygosity mapping in Hermansky-Pudlak syndrome: identification of the second HPS7 mutation in a patient presenting late in life. [electronic resource] by Lowe, Gillian C Sánchez Guiu, Isabel Chapman, Oliver Rivera, José Lordkipanidzé, Marie Dovlatova, Natalia Wilde, Jonathan Watson, Steve P Morgan, Neil V Producer: 20131112 In: Thrombosis and haemostasis vol. 109 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Chediak-Higashi syndrome: description of two novel homozygous missense mutations causing divergent clinical phenotype. [electronic resource] by Sánchez-Guiu, Isabel Antón, Ana I García-Barberá, Nuria Navarro-Fernández, José Martínez, Constantino Fuster, Jose L Couselo, Jose M Ortuño, Francisco J Vicente, Vicente Rivera, Jose Lozano, Maria L Producer: 20140731 In: European journal of haematology vol. 92 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Functional and molecular characterization of inherited platelet disorders in the Iberian Peninsula: results from a collaborative study. [electronic resource] by Sánchez-Guiu, Isabel Antón, Ana I Padilla, José Velasco, Francisco Lucia, José F Lozano, Miguel Cid, Ana Rosa Sevivas, Teresa Lopez-Fernandez, María F Vicente, Vicente González-Manchón, Consuelo Rivera, José Lozano, María L Producer: 20151030 In: Orphanet journal of rare diseases vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Allogeneic hematopoietic cell transplantation in an adult patient with Glanzmann thrombasthenia. [electronic resource] by Cid, Ana R Montesinos, Pau Sánchez-Guiu, Isabel Haya, Saturnino Lorenzo, Jose I Sanz, Jaime Moscardo, Federico Puig, Nieves Planelles, Dolores Bonanad, Santiago Sanz, Guillermo F Vicente, Vicente González-Manchón, Consuelo Lozano, María L Rivera, José Sanz, Miguel A Publication details: Clinical case reports 11 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)
	6.	Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects. [electronic resource] by Johnson, Ben Lowe, Gillian C Futterer, Jane Lordkipanidzé, Marie MacDonald, David Simpson, Michael A Sanchez-Guiú, Isabel Drake, Sian Bem, Danai Leo, Vincenzo Fletcher, Sarah J Dawood, Ban Rivera, José Allsup, David Biss, Tina Bolton-Maggs, Paula Hb Collins, Peter Curry, Nicola Grimley, Charlotte James, Beki Makris, Mike Motwani, Jayashree Pavord, Sue Talks, Katherine Thachil, Jecko Wilde, Jonathan Williams, Mike Harrison, Paul Gissen, Paul Mundell, Stuart Mumford, Andrew Daly, Martina E Watson, Steve P Morgan, Neil V Producer: 20170616 In: Haematologica vol. 101 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)