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	1.	Novel CHKB mutation expands the megaconial muscular dystrophy phenotype. [electronic resource] by Cabrera-Serrano, Macarena Junckerstorff, Reimar C Atkinson, Vanessa Sivadorai, Padma Allcock, Richard J Lamont, Phillipa Laing, Nigel G Producer: 20150309 In: Muscle & nerve vol. 51 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Distal arthrogryposis type 5D with novel clinical features and compound heterozygous mutations in ECEL1. [electronic resource] by Barnett, Christopher P Todd, Emily J Ong, Royston Davis, Mark R Atkinson, Vanessa Allcock, Richard Laing, Nigel Ravenscroft, Gianina Producer: 20150818 In: American journal of medical genetics. Part A vol. 164A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Novel cofilin-2 (CFL2) four base pair deletion causing nemaline myopathy. [electronic resource] by Ong, Royston W AlSaman, Abdulaziz Selcen, Duygu Arabshahi, Arash Yau, Kyle S Ravenscroft, Gianina Duff, Rachael M Atkinson, Vanessa Allcock, Richard J Laing, Nigel G Producer: 20141002 In: Journal of neurology, neurosurgery, and psychiatry vol. 85 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Silver Russel syndrome in an aboriginal patient from Australia. [electronic resource] by Poulton, Cathryn Azmanov, Dimitar Atkinson, Vanessa Beilby, John Ewans, Lisa Gration, Dylan Dreyer, Lauren Shetty, Vinutha Peake, Ciara McCormack, Emma Palmer, Richard Lewis, Barry Dawkins, Hugh Broley, Stephanie Baynam, Gareth Producer: 20191029 In: American journal of medical genetics. Part A vol. 176 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience. [electronic resource] by Beecroft, Sarah J Yau, Kyle S Allcock, Richard J N Mina, Kym Gooding, Rebecca Faiz, Fathimath Atkinson, Vanessa J Wise, Cheryl Sivadorai, Padma Trajanoski, Daniel Kresoje, Nina Ong, Royston Duff, Rachael M Cabrera-Serrano, Macarena Nowak, Kristen J Pachter, Nicholas Ravenscroft, Gianina Lamont, Phillipa J Davis, Mark R Laing, Nigel G Producer: 20210412 In: Annals of clinical and translational neurology vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor. [electronic resource] by Kumar, Raman Palmer, Elizabeth Gardner, Alison E Carroll, Renee Banka, Siddharth Abdelhadi, Ola Donnai, Dian Elgersma, Ype Curry, Cynthia J Gardham, Alice Suri, Mohnish Malla, Rishikesh Brady, Lauren Ilana Tarnopolsky, Mark Azmanov, Dimitar N Atkinson, Vanessa Black, Michael Baynam, Gareth Dreyer, Lauren Hayeems, Robin Z Marshall, Christian R Costain, Gregory Wessels, Marja W Baptista, Julia Drummond, James Leffler, Melanie Field, Michael Gecz, Jozef Publication details: Frontiers in molecular neuroscience 2020 In: Frontiers in molecular neuroscience vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)