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	1.	Comparison of Methods of Initial Ascertainment in 58 Cases of Propionic Acidemia Enrolled in the Inborn Errors of Metabolism Information System Reveals Significant Differences in Time to Evaluation and Symptoms at Presentation. [electronic resource] by McCrory, Nicholas M Edick, Mathew J Ahmad, Ayesha Lipinski, Susan Scott Schwoerer, Jessica A Zhai, Shaohui Justice, Kaitlin Cameron, Cynthia A Berry, Susan A Pena, Loren D M Producer: 20170615 In: The Journal of pediatrics vol. 180 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness. [electronic resource] by George, Aman Zand, Dina J Hufnagel, Robert B Sharma, Ruchi Sergeev, Yuri V Legare, Janet M Rice, Gregory M Scott Schwoerer, Jessica A Rius, Mariana Tetri, Laura Gamm, David M Bharti, Kapil Brooks, Brian P Producer: 20170523 In: American journal of human genetics vol. 99 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene. [electronic resource] by Mercimek-Mahmutoglu, Saadet Ndika, Joseph Kanhai, Warsha de Villemeur, Thierry Billette Cheillan, David Christensen, Ernst Dorison, Nathalie Hannig, Vickie Hendriks, Yvonne Hofstede, Floris C Lion-Francois, Laurence Lund, Allan M Mundy, Helen Pitelet, Gaele Raspall-Chaure, Miquel Scott-Schwoerer, Jessica A Szakszon, Katalin Valayannopoulos, Vassili Williams, Monique Salomons, Gajja S Producer: 20150129 In: Human mutation vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)