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	21.	Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency. [electronic resource] by Morris, Andrew A M Kožich, Viktor Santra, Saikat Andria, Generoso Ben-Omran, Tawfeg I M Chakrapani, Anupam B Crushell, Ellen Henderson, Mick J Hochuli, Michel Huemer, Martina Janssen, Miriam C H Maillot, Francois Mayne, Philip D McNulty, Jenny Morrison, Tara M Ogier, Helene O'Sullivan, Siobhan Pavlíková, Markéta de Almeida, Isabel Tavares Terry, Allyson Yap, Sufin Blom, Henk J Chapman, Kimberly A Producer: 20171204 In: Journal of inherited metabolic disease vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	22.	Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome. [electronic resource] by Gissen, Paul Johnson, Colin A Morgan, Neil V Stapelbroek, Janneke M Forshew, Tim Cooper, Wendy N McKiernan, Patrick J Klomp, Leo W J Morris, Andrew A M Wraith, James E McClean, Patricia Lynch, Sally A Thompson, Richard J Lo, Bryan Quarrell, Oliver W Di Rocco, Maja Trembath, Richard C Mandel, Hanna Wali, S Karet, Fiona E Knisely, A S Houwen, Roderick H J Kelly, Deirdre A Maher, Eamonn R Producer: 20040816 In: Nature genetics vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	23.	Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. [electronic resource] by Taylor, Robert W Pyle, Angela Griffin, Helen Blakely, Emma L Duff, Jennifer He, Langping Smertenko, Tania Alston, Charlotte L Neeve, Vivienne C Best, Andrew Yarham, John W Kirschner, Janbernd Schara, Ulrike Talim, Beril Topaloglu, Haluk Baric, Ivo Holinski-Feder, Elke Abicht, Angela Czermin, Birgit Kleinle, Stephanie Morris, Andrew A M Vassallo, Grace Gorman, Grainne S Ramesh, Venkateswaran Turnbull, Douglass M Santibanez-Koref, Mauro McFarland, Robert Horvath, Rita Chinnery, Patrick F Producer: 20140811 In: JAMA vol. 312 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	24.	LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population. [electronic resource] by Oláhová, Monika Hardy, Steven A Hall, Julie Yarham, John W Haack, Tobias B Wilson, William C Alston, Charlotte L He, Langping Aznauryan, Erik Brown, Ruth M Brown, Garry K Morris, Andrew A M Mundy, Helen Broomfield, Alex Barbosa, Ines A Simpson, Michael A Deshpande, Charu Moeslinger, Dorothea Koch, Johannes Stettner, Georg M Bonnen, Penelope E Prokisch, Holger Lightowlers, Robert N McFarland, Robert Chrzanowska-Lightowlers, Zofia M A Taylor, Robert W Producer: 20160504 In: Brain : a journal of neurology vol. 138 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)