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	101.	[Shwachman-Bodian-Diamond syndrome (SBDS). Answer to January e-quid]. [electronic resource] by Iannessi, A Novellas, S Producer: 20110824 In: Journal de radiologie vol. 92 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	102.	Abnormal circumferential strain measured by echocardiography is present in patients with Shwachman-Diamond syndrome despite normal shortening fraction. [electronic resource] by Ryan, Thomas D Jefferies, John L Chin, Clifford Sticka, Joshua J Taylor, Michael D Harris, Richard Moore, Joan Goodridge, Erica Mount, Leann Bolyard, Audrey A Otto, Barbara Jones, Amanda Shimamura, Akiko Davies, Stella Myers, Kasiani Producer: 20150922 In: Pediatric blood & cancer vol. 62 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	103.	A unique case of Shwachman-Diamond syndrome presenting with congenital hypopituitarism. [electronic resource] by Jivani, Nurin Torrado-Jule, Carmen Vaiselbuh, Sarah Romanos-Sirakis, Eleny Producer: 20170503 In: Journal of pediatric endocrinology & metabolism : JPEM vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	104.	Diffuse alterations in grey and white matter associated with cognitive impairment in Shwachman-Diamond syndrome: evidence from a multimodal approach. [electronic resource] by Perobelli, Sandra Alessandrini, Franco Zoccatelli, Giada Nicolis, Elena Beltramello, Alberto Assael, Baroukh M Cipolli, Marco Producer: 20160114 In: NeuroImage. Clinical vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	105.	Defective Guanine Nucleotide Exchange in the Elongation Factor-like 1 (EFL1) GTPase by Mutations in the Shwachman-Diamond Syndrome Protein. [electronic resource] by García-Márquez, Adrián Gijsbers, Abril de la Mora, Eugenio Sánchez-Puig, Nuria Producer: 20151015 In: The Journal of biological chemistry vol. 290 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	106.	Of blood, bones, and ribosomes: is Swachman-Diamond syndrome a ribosomopathy? [electronic resource] by Johnson, Arlen W Ellis, Steve R Producer: 20110624 In: Genes & development vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	107.	Peripheral blood immunophenotyping in a large cohort of patients with Shwachman-Diamond syndrome. [electronic resource] by Bezzerri, Valentino Vella, Antonio Gennaro, Gianfranco Di Ortolani, Riccardo Nicolis, Elena Cesaro, Simone Fabrizzi, Benedetta Bronte, Vincenzo Corey, Seth J Cipolli, Marco Producer: 20191129 In: Pediatric blood & cancer vol. 66 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	108.	Mitochondrial function is impaired in yeast and human cellular models of Shwachman Diamond syndrome. [electronic resource] by Henson, Adrianna L Moore, Joseph B Alard, Pascale Wattenberg, Max M Liu, Johnson M Ellis, Steven R Producer: 20131001 In: Biochemical and biophysical research communications vol. 437 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	109.	Ribosome biogenesis in skeletal development and the pathogenesis of skeletal disorders. [electronic resource] by Trainor, Paul A Merrill, Amy E Producer: 20140528 In: Biochimica et biophysica acta vol. 1842 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	110.	In Vivo Senescence in the Sbds-Deficient Murine Pancreas: Cell-Type Specific Consequences of Translation Insufficiency. [electronic resource] by Tourlakis, Marina E Zhang, Siyi Ball, Heather L Gandhi, Rikesh Liu, Hongrui Zhong, Jian Yuan, Julie S Guidos, Cynthia J Durie, Peter R Rommens, Johanna M Producer: 20160610 In: PLoS genetics vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	111.	Severe infantile isolated exocrine pancreatic insufficiency caused by the complete functional loss of the SPINK1 gene. [electronic resource] by Venet, Théa Masson, Emmanuelle Talbotec, Cécile Billiemaz, Kareen Touraine, Renaud Gay, Claire Destombe, Sylvie Cooper, David N Patural, Hugues Chen, Jian-Min Férec, Claude Producer: 20180618 In: Human mutation vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	112.	A rare case: Shwachman-Diamond syndrome presenting with diabetic ketoacidosis. [electronic resource] by Akdogan, M Fatih Altay, Mustafa Denizli, Nazim Gucun, Murat Tanrikulu, Seher Duranay, Murat Producer: 20120131 In: Endocrine vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	113.	Ribosomal protein mutations induce autophagy through S6 kinase inhibition of the insulin pathway. [electronic resource] by Heijnen, Harry F van Wijk, Richard Pereboom, Tamara C Goos, Yvonne J Seinen, Cor W van Oirschot, Brigitte A van Dooren, Rowie Gastou, Marc Giles, Rachel H van Solinge, Wouter Kuijpers, Taco W Gazda, Hanna T Bierings, Marc B Da Costa, Lydie MacInnes, Alyson W Producer: 20141215 In: PLoS genetics vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	114.	Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome. [electronic resource] by Carvalho, Claudia M B Zuccherato, Luciana W Williams, Christopher L Neill, Nicholas J Murdock, David R Bainbridge, Matthew Jhangiani, Shalini N Muzny, Donna M Gibbs, Richard A Ip, Wan Guillerman, Robert Paul Lupski, James R Bertuch, Alison A Producer: 20140804 In: BMC medical genetics vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	115.	Neonatal manifestations of inherited bone marrow failure syndromes. [electronic resource] by Khincha, Payal P Savage, Sharon A Producer: 20161109 In: Seminars in fetal & neonatal medicine vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	116.	Otologic manifestations of Fanconi anemia and other inherited bone marrow failure syndromes. [electronic resource] by Kalejaiye, Adedoyin Giri, Neelam Brewer, Carmen C Zalewski, Christopher K King, Kelly A Adams, Charleen D Rosenberg, Philip S Kim, H Jeffrey Alter, Blanche P Producer: 20170614 In: Pediatric blood & cancer vol. 63 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	117.	Increase in central striatal dopamine transporters in patients with Shwachman-Diamond syndrome: additional evidence of a brain phenotype. [electronic resource] by Booij, Jan Reneman, Liesbeth Alders, Marielle Kuijpers, Taco W Producer: 20130619 In: American journal of medical genetics. Part A vol. 161A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	118.	Nutritional status in children with Shwachman-diamond syndrome. [electronic resource] by Pichler, Judith Meyer, Rosan Köglmeier, Jutta Ancliff, Phil Shah, Neil Producer: 20160411 In: Pancreas vol. 44 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	119.	Evidence of a generalized defect of acinar cell function in Shwachman-Diamond syndrome. [electronic resource] by Stormon, Michael O Ip, Wan F Ellis, Lynda Schibli, Susanne Rommens, Johanna M Durie, Peter R Producer: 20110112 In: Journal of pediatric gastroenterology and nutrition vol. 51 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	120.	Allogeneic hematopoietic stem cell transplantation for inherited bone marrow failure syndromes. [electronic resource] by Dalle, Jean-Hugues Peffault de Latour, Régis Producer: 20170111 In: International journal of hematology vol. 103 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.