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	121.	Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations. [electronic resource] by Tsangaris, E Klaassen, R Fernandez, C V Yanofsky, R Shereck, E Champagne, J Silva, M Lipton, J H Brossard, J Michon, B Abish, S Steele, M Ali, K Dower, N Athale, U Jardine, L Hand, J P Odame, I Canning, P Allen, C Carcao, M Beyene, J Roifman, C M Dror, Y Producer: 20120313 In: Journal of medical genetics vol. 48 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	122.	Impaired ribosomal subunit association in Shwachman-Diamond syndrome. [electronic resource] by Burwick, Nicholas Coats, Scott A Nakamura, Tomoka Shimamura, Akiko Producer: 20130215 In: Blood vol. 120 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	123.	TGFβ signaling underlies hematopoietic dysfunction and bone marrow failure in Shwachman-Diamond Syndrome. [electronic resource] by Joyce, Cailin E Saadatpour, Assieh Ruiz-Gutierrez, Melisa Bolukbasi, Ozge Vargel Jiang, Lan Thomas, Dolly D Young, Sarah Hofmann, Inga Sieff, Colin A Myers, Kasiani C Whangbo, Jennifer Libermann, Towia A Nusbaum, Chad Yuan, Guo-Cheng Shimamura, Akiko Novina, Carl D Producer: 20200623 In: The Journal of clinical investigation vol. 129 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	124.	Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features. [electronic resource] by Carapito, Raphael Konantz, Martina Paillard, Catherine Miao, Zhichao Pichot, Angélique Leduc, Magalie S Yang, Yaping Bergstrom, Katie L Mahoney, Donald H Shardy, Deborah L Alsaleh, Ghada Naegely, Lydie Kolmer, Aline Paul, Nicodème Hanauer, Antoine Rolli, Véronique Müller, Joëlle S Alghisi, Elisa Sauteur, Loïc Macquin, Cécile Morlon, Aurore Sancho, Consuelo Sebastia Amati-Bonneau, Patrizia Procaccio, Vincent Mosca-Boidron, Anne-Laure Marle, Nathalie Osmani, Naël Lefebvre, Olivier Goetz, Jacky G Unal, Sule Akarsu, Nurten A Radosavljevic, Mirjana Chenard, Marie-Pierre Rialland, Fanny Grain, Audrey Béné, Marie-Christine Eveillard, Marion Vincent, Marie Guy, Julien Faivre, Laurence Thauvin-Robinet, Christel Thevenon, Julien Myers, Kasiani Fleming, Mark D Shimamura, Akiko Bottollier-Lemallaz, Elodie Westhof, Eric Lengerke, Claudia Isidor, Bertrand Bahram, Seiamak Producer: 20171124 In: The Journal of clinical investigation vol. 127 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	125.	The genomics of inherited bone marrow failure: from mechanism to the clinic. [electronic resource] by Wegman-Ostrosky, Talia Savage, Sharon A Producer: 20170731 In: British journal of haematology vol. 177 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	126.	Altered intracellular localization and mobility of SBDS protein upon mutation in Shwachman-Diamond syndrome. [electronic resource] by Orelio, Claudia van der Sluis, Renée M Verkuijlen, Paul Nethe, Micha Hordijk, Peter L van den Berg, Timo K Kuijpers, Taco W Producer: 20111102 In: PloS one vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	127.	Refining the phenotype associated with biallelic DNAJC21 mutations. [electronic resource] by D'Amours, G Lopes, F Gauthier, J Saillour, V Nassif, C Wynn, R Alos, N Leblanc, T Capri, Y Nizard, S Lemyre, E Michaud, J L Pelletier, V-A Pastore, Y D Soucy, J-F Producer: 20191115 In: Clinical genetics vol. 94 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	128.	eIF6 anti-association activity is required for ribosome biogenesis, translational control and tumor progression. [electronic resource] by Brina, Daniela Miluzio, Annarita Ricciardi, Sara Biffo, Stefano Producer: 20150821 In: Biochimica et biophysica acta vol. 1849 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	129.	Ataluren-driven restoration of Shwachman-Bodian-Diamond syndrome protein function in Shwachman-Diamond syndrome bone marrow cells. [electronic resource] by Bezzerri, Valentino Bardelli, Donatella Morini, Jacopo Vella, Antonio Cesaro, Simone Sorio, Claudio Biondi, Andrea Danesino, Cesare Farruggia, Piero Assael, Baroukh Maurice D'amico, Giovanna Cipolli, Marco Producer: 20190503 In: American journal of hematology vol. 93 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	130.	Mutations in the [electronic resource] by Bellanné-Chantelot, Christine Schmaltz-Panneau, Barbara Marty, Caroline Fenneteau, Odile Callebaut, Isabelle Clauin, Séverine Docet, Aurélie Damaj, Gandhi-Laurent Leblanc, Thierry Pellier, Isabelle Stoven, Cécile Souquere, Sylvie Antony-Debré, Iléana Beaupain, Blandine Aladjidi, Nathalie Barlogis, Vincent Bauduer, Frédéric Bensaid, Philippe Boespflug-Tanguy, Odile Berger, Claire Bertrand, Yves Carausu, Liana Fieschi, Claire Galambrun, Claire Schmidt, Aline Journel, Hubert Mazingue, Françoise Nelken, Brigitte Quah, Thuan Chong Oksenhendler, Eric Ouachée, Marie Pasquet, Marlène Saada, Véronique Suarez, Felipe Pierron, Gérard Vainchenker, William Plo, Isabelle Donadieu, Jean Producer: 20190723 In: Blood vol. 132 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	131.	Inherited bone marrow failure syndromes in adolescents and young adults. [electronic resource] by Wilson, David B Link, Daniel C Mason, Philip J Bessler, Monica Producer: 20150622 In: Annals of medicine vol. 46 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	132.	Clinical features and outcomes of patients with Shwachman-Diamond syndrome and myelodysplastic syndrome or acute myeloid leukaemia: a multicentre, retrospective, cohort study. [electronic resource] by Myers, Kasiani C Furutani, Elissa Weller, Edie Siegele, Bradford Galvin, Ashley Arsenault, Valerie Alter, Blanche P Boulad, Farid Bueso-Ramos, Carlos Burroughs, Lauri Castillo, Paul Connelly, James Davies, Stella M DiNardo, Courtney D Hanif, Iftikhar Ho, Richard H Karras, Nicole Manalang, Michelle McReynolds, Lisa J Nakano, Taizo A Nalepa, Grzegorz Norkin, Maxim Oberley, Matthew J Orgel, Etan Pastore, Yves D Rosenthal, Joseph Walkovich, Kelly Larson, Jordan Malsch, Maggie Elghetany, M Tarek Fleming, Mark D Shimamura, Akiko Producer: 20200311 In: The Lancet. Haematology vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	133.	Recent insights into inherited bone marrow failure syndromes. [electronic resource] by Parikh, Shefali Bessler, Monica Producer: 20120502 In: Current opinion in pediatrics vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	134.	Therapeutic discovery for marrow failure with MDS predisposition using pluripotent stem cells. [electronic resource] by Ruiz-Gutierrez, Melisa Bölükbaşı, Özge Vargel Alexe, Gabriela Kotini, Adriana G Ballotti, Kaitlyn Joyce, Cailin E Russell, David W Stegmaier, Kimberly Myers, Kasiani Novina, Carl D Papapetrou, Eirini P Shimamura, Akiko Producer: 20200924 In: JCI insight vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	135.	Mesenchymal stromal cells from Shwachman-Diamond syndrome patients fail to recreate a bone marrow niche in vivo and exhibit impaired angiogenesis. [electronic resource] by Bardelli, Donatella Dander, Erica Bugarin, Cristina Cappuzzello, Claudia Pievani, Alice Fazio, Grazia Pierani, Paolo Corti, Paola Farruggia, Piero Dufour, Carlo Cesaro, Simone Cipolli, Marco Biondi, Andrea D'Amico, Giovanna Producer: 20190610 In: British journal of haematology vol. 182 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	136.	Shwachman-Diamond Syndrome Protein SBDS Maintains Human Telomeres by Regulating Telomerase Recruitment. [electronic resource] by Liu, Yi Liu, Feng Cao, Yizhao Xu, Huimin Wu, Yangxiu Wu, Su Liu, Dan Zhao, Yong Songyang, Zhou Ma, Wenbin Producer: 20190604 In: Cell reports vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	137.	Genetic Information-Seeking Behaviors and Knowledge among Family Members and Patients with Inherited Bone Marrow Failure Syndromes. [electronic resource] by Hamilton, Jada G Hutson, Sadie P Frohnmayer, Amy E Han, Paul K J Peters, June A Carr, Ann G Alter, Blanche P Producer: 20160601 In: Journal of genetic counseling vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	138.	Ubiquitin-proteasome-rich cytoplasmic structures in neutrophils of patients with Shwachman-Diamond syndrome. [electronic resource] by Necchi, Vittorio Minelli, Antonella Sommi, Patrizia Vitali, Agostina Caruso, Roberta Longoni, Daniela Frau, Maria Rita Nasi, Cristina De Gregorio, Fabiola Zecca, Marco Ricci, Vittorio Danesino, Cesare Solcia, Enrico Producer: 20121231 In: Haematologica vol. 97 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	139.	Immunophenotypic analysis of hematopoiesis in patients suffering from Shwachman-Bodian-Diamond Syndrome. [electronic resource] by Mercuri, Angela Cannata, Elisa Perbellini, Omar Cugno, Chiara Balter, Rita Zaccaron, Ada Tridello, Gloria Pizzolo, Giovanni De Bortoli, Massimiliano Krampera, Mauro Cipolli, Marco Cesaro, Simone Producer: 20160617 In: European journal of haematology vol. 95 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	140.	Shwachman-Bodian-Diamond syndrome (SBDS) protein deficiency impairs translation re-initiation from C/EBPα and C/EBPβ mRNAs. [electronic resource] by In, Kyungmin Zaini, Mohamad A Müller, Christine Warren, Alan J von Lindern, Marieke Calkhoven, Cornelis F Producer: 20170704 In: Nucleic acids research vol. 44 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 157 results.