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	1.	Advances in genomic testing. [electronic resource] by Donoghue, Sarah Downie, Lilian Stutterd, Chloe Producer: 20170918 In: Australian family physician vol. 46 Availability: No items available. Save to lists Add to cart (remove)
	2.	Polymicrogyria: a common and heterogeneous malformation of cortical development. [electronic resource] by Stutterd, Chloe A Leventer, Richard J Producer: 20150126 In: American journal of medical genetics. Part C, Seminars in medical genetics vol. 166C Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Polymicrogyria associated with 17p13.3p13.2 duplication: Case report and review of the literature. [electronic resource] by Stutterd, Chloe A Francis, David McGillivray, George Lockhart, Paul J Leventer, Richard J Producer: 20201201 In: European journal of medical genetics vol. 63 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Polymicrogyria in association with hypoglycemia points to mutation in the mTOR pathway. [electronic resource] by Stutterd, Chloe McGillivray, George Stark, Zornitza Messazos, Betty Cameron, Fergus White, Sue Mirzaa, Ghayda Leventer, Richard Producer: 20190222 In: European journal of medical genetics vol. 61 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Hyperinsulinaemic hypoglycaemia: A rare association of vanishing white matter disease. [electronic resource] by Bursle, Carolyn Yiu, Eppie M Yeung, Alison Freeman, Jeremy L Stutterd, Chloe Leventer, Richard J Vanderver, Adeline Yaplito-Lee, Joy Publication details: JIMD reports Jan 2020 In: JIMD reports vol. 51 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Neuropathology of childhood-onset basal ganglia degeneration caused by mutation of [electronic resource] by Stutterd, Chloe Diakumis, Peter Bahlo, Melanie Fanjul Fernandez, Miriam Leventer, Richard J Delatycki, Martin Amor, David Chow, Chung W Stephenson, Sarah Meisler, Miriam H Mclean, Catriona Lockhart, Paul J Publication details: Annals of clinical and translational neurology 12 2017 In: Annals of clinical and translational neurology vol. 4 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis. [electronic resource] by Tan, Tiong Yang Lunke, Sebastian Chong, Belinda Phelan, Dean Fanjul-Fernandez, Miriam Marum, Justine E Kumar, Vanessa Siva Stark, Zornitza Yeung, Alison Brown, Natasha J Stutterd, Chloe Delatycki, Martin B Sadedin, Simon Martyn, Melissa Goranitis, Ilias Thorne, Natalie Gaff, Clara L White, Susan M Producer: 20200717 In: European journal of human genetics : EJHG vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots. [electronic resource] by Armangue, Thais Orsini, Joseph J Takanohashi, Asako Gavazzi, Francesco Conant, Alex Ulrick, Nicole Morrissey, Mark A Nahhas, Norah Helman, Guy Gordish-Dressman, Heather Orcesi, Simona Tonduti, Davide Stutterd, Chloe van Haren, Keith Toro, Camilo Iglesias, Alejandro D van der Knaap, Marjo S Goldbach Mansky, Raphaela Moser, Anne B Jones, Richard O Vanderver, Adeline Producer: 20180801 In: Molecular genetics and metabolism vol. 122 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Cerebral hypomyelination associated with biallelic variants of FIG4. [electronic resource] by Lenk, Guy M Berry, Ian R Stutterd, Chloe A Blyth, Moira Green, Lydia Vadlamani, Gayatri Warren, Daniel Craven, Ian Fanjul-Fernandez, Miriam Rodriguez-Casero, Victoria Lockhart, Paul J Vanderver, Adeline Simons, Cas Gibb, Susan Sadedin, Simon White, Susan M Christodoulou, John Skibina, Olga Ruddle, Jonathan Tan, Tiong Y Leventer, Richard J Livingston, John H Meisler, Miriam H Producer: 20200309 In: Human mutation vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype. [electronic resource] by Yigit, Gökhan Saida, Ken DeMarzo, Danielle Miyake, Noriko Fujita, Atsushi Yang Tan, Tiong White, Susan M Wadley, Alexandrea Toliat, Mohammad R Motameny, Susanne Franitza, Marek Stutterd, Chloe A Chong, Pin F Kira, Ryutaro Sengoku, Toru Ogata, Kazuhiro Guillen Sacoto, Maria J Fresen, Christine Beck, Bodo B Nürnberg, Peter Dieterich, Christoph Wollnik, Bernd Matsumoto, Naomichi Altmüller, Janine 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)