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	1.	Cockayne syndrome caused by paternally inherited 5 Mb deletion of 10q11.2 and a frameshift mutation of ERCC6. [electronic resource] by Ghai, Shailly Jain Shago, Mary Shroff, Manohar Yoon, Grace Producer: 20110928 In: European journal of medical genetics vol. 54 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review. [electronic resource] by Pugliese, Michael Tingley, Kylie Chow, Andrea Pallone, Nicole Smith, Maureen Rahman, Alvi Chakraborty, Pranesh Geraghty, Michael T Irwin, Julie Tessier, Laure Nicholls, Stuart G Offringa, Martin Butcher, Nancy J Iverson, Ryan Clifford, Tammy J Stockler, Sylvia Hutton, Brian Paik, Karen Tao, Jessica Skidmore, Becky Coyle, Doug Duddy, Kathleen Dyack, Sarah Greenberg, Cheryl R Ghai, Shailly Jain Karp, Natalya Korngut, Lawrence Kronick, Jonathan MacKenzie, Alex MacKenzie, Jennifer Maranda, Bruno Mitchell, John J Potter, Murray Prasad, Chitra Schulze, Andreas Sparkes, Rebecca Taljaard, Monica Trakadis, Yannis Walia, Jagdeep Potter, Beth K Producer: 20210201 In: Orphanet journal of rare diseases vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network. [electronic resource] by Tingley, Kylie Lamoureux, Monica Pugliese, Michael Geraghty, Michael T Kronick, Jonathan B Potter, Beth K Coyle, Doug Wilson, Kumanan Kowalski, Michael Austin, Valerie Brunel-Guitton, Catherine Buhas, Daniela Chan, Alicia K J Dyack, Sarah Feigenbaum, Annette Giezen, Alette Goobie, Sharan Greenberg, Cheryl R Ghai, Shailly Jain Inbar-Feigenberg, Michal Karp, Natalya Kozenko, Mariya Langley, Erica Lines, Matthew Little, Julian MacKenzie, Jennifer Maranda, Bruno Mercimek-Andrews, Saadet Mohan, Connie Mhanni, Aizeddin Mitchell, Grant Mitchell, John J Nagy, Laura Napier, Melanie Pender, Amy Potter, Murray Prasad, Chitra Ratko, Suzanne Salvarinova, Ramona Schulze, Andreas Siriwardena, Komudi Sondheimer, Neal Sparkes, Rebecca Stockler-Ipsiroglu, Sylvia Trakadis, Yannis Turner, Lesley Van Karnebeek, Clara Vallance, Hilary Vandersteen, Anthony Walia, Jagdeep Wilson, Ashley Wilson, Brenda J Yu, Andrea C Yuskiv, Nataliya Chakraborty, Pranesh Producer: 20210618 In: Orphanet journal of rare diseases vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)