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	1.	The clinical aspects of newborn screening: importance of newborn screening follow-up. [electronic resource] by James, Philip M Levy, Harvey L Producer: 20070314 In: Mental retardation and developmental disabilities research reviews vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome. [electronic resource] by Thaker, Vidhu V Esteves, Kristyn M Towne, Meghan C Brownstein, Catherine A James, Philip M Crowley, Laura Hirschhorn, Joel N Elsea, Sarah H Beggs, Alan H Picker, Jonathan Agrawal, Pankaj B Producer: 20150930 In: The Journal of clinical endocrinology and metabolism vol. 100 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals. [electronic resource] by Wojcik, Monica H Wierenga, Klaas J Rodan, Lance H Sahai, Inderneel Ferdinandusse, Sacha Genetti, Casie A Towne, Meghan C Peake, Roy W A James, Philip M Beggs, Alan H Brownstein, Catherine A Berry, Gerard T Agrawal, Pankaj B Publication details: JIMD reports 2018 In: JIMD reports vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	A Novel N-Tetrasaccharide in Patients with Congenital Disorders of Glycosylation, Including Asparagine-Linked Glycosylation Protein 1, Phosphomannomutase 2, and Mannose Phosphate Isomerase Deficiencies. [electronic resource] by Zhang, Wenyue James, Philip M Ng, Bobby G Li, Xueli Xia, Baoyun Rong, Jiang Asif, Ghazia Raymond, Kimiyo Jones, Melanie A Hegde, Madhuri Ju, Tongzhong Cummings, Richard D Clarkson, Katie Wood, Tim Boerkoel, Cornelius F Freeze, Hudson H He, Miao Producer: 20160620 In: Clinical chemistry vol. 62 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria. [electronic resource] by Sloan, Jennifer L Johnston, Jennifer J Manoli, Irini Chandler, Randy J Krause, Caitlin Carrillo-Carrasco, Nuria Chandrasekaran, Suma D Sysol, Justin R O'Brien, Kevin Hauser, Natalie S Sapp, Julie C Dorward, Heidi M Huizing, Marjan Barshop, Bruce A Berry, Susan A James, Philip M Champaigne, Neena L de Lonlay, Pascale Valayannopoulos, Vassilli Geschwind, Michael D Gavrilov, Dimitar K Nyhan, William L Biesecker, Leslie G Venditti, Charles P Producer: 20111017 In: Nature genetics vol. 43 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. [electronic resource] by Ng, Bobby G Shiryaev, Sergey A Rymen, Daisy Eklund, Erik A Raymond, Kimiyo Kircher, Martin Abdenur, Jose E Alehan, Fusun Midro, Alina T Bamshad, Michael J Barone, Rita Berry, Gerard T Brumbaugh, Jane E Buckingham, Kati J Clarkson, Katie Cole, F Sessions O'Connor, Shawn Cooper, Gregory M Van Coster, Rudy Demmer, Laurie A Diogo, Luisa Fay, Alexander J Ficicioglu, Can Fiumara, Agata Gahl, William A Ganetzky, Rebecca Goel, Himanshu Harshman, Lyndsay A He, Miao Jaeken, Jaak James, Philip M Katz, Daniel Keldermans, Liesbeth Kibaek, Maria Kornberg, Andrew J Lachlan, Katherine Lam, Christina Yaplito-Lee, Joy Nickerson, Deborah A Peters, Heidi L Race, Valerie Régal, Luc Rush, Jeffrey S Rutledge, S Lane Shendure, Jay Souche, Erika Sparks, Susan E Trapane, Pamela Sanchez-Valle, Amarilis Vilain, Eric Vøllo, Arve Waechter, Charles J Wang, Raymond Y Wolfe, Lynne A Wong, Derek A Wood, Tim Yang, Amy C Matthijs, Gert Freeze, Hudson H Producer: 20171214 In: Human mutation vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)