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	1.	Neonatal Onset Interstitial Lung Disease as a Primary Presenting Manifestation of Mucopolysaccharidosis Type I. [electronic resource] by Bush, Douglas Sremba, Leighann Lomax, Kate Lipsett, Jill Ketteridge, David Bratkovic, Drago Enchautegui-Colon, Yazmin Weisfeld-Adams, James Galambos, Csaba Lummus, Seth Wartchow, Eric Weinman, Jason Liptzin, Deborah R Baker, Peter Publication details: JIMD reports 2019 In: JIMD reports vol. 43 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy. [electronic resource] by Assia Batzir, Nurit Kishor Bhagwat, Pranjali Larson, Austin Coban Akdemir, Zeynep Bagłaj, Maciej Bofferding, Leon Bosanko, Katherine B Bouassida, Skander Callewaert, Bert Cannon, Ashley Enchautegui Colon, Yazmin Garnica, Adolfo D Harr, Margaret H Heck, Sandra Hurst, Anna C E Jhangiani, Shalini N Isidor, Bertrand Littlejohn, Rebecca O Liu, Pengfei Magoulas, Pilar Mar Fan, Helen Marom, Ronit McLean, Scott Nezarati, Marjan M Nugent, Kimberly M Petersen, Michael B Rocha, Maria L Roeder, Elizabeth Smigiel, Robert Tully, Ian Weisfeld-Adams, James Wells, Katerina O Posey, Jennifer E Lupski, James R Beaudet, Arthur L Wangler, Michael F Producer: 20210721 In: Human mutation vol. 41 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)