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	1.	Pontine tegmental cap dysplasia with a 2q13 microdeletion involving the NPHP1 gene: insights into malformations of the mid-hindbrain. [electronic resource] by Macferran, Kimberly M Buchmann, Robert F Ramakrishnaiah, Raghu Griebel, May L Sanger, Warren G Saronwala, Anirudh Schaefer, G Bradley Producer: 20100728 In: Seminars in pediatric neurology vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. [electronic resource] by Meng, Linyan Pammi, Mohan Saronwala, Anirudh Magoulas, Pilar Ghazi, Andrew Ray Vetrini, Francesco Zhang, Jing He, Weimin Dharmadhikari, Avinash V Qu, Chunjing Ward, Patricia Braxton, Alicia Narayanan, Swetha Ge, Xiaoyan Tokita, Mari J Santiago-Sim, Teresa Dai, Hongzheng Chiang, Theodore Smith, Hadley Azamian, Mahshid S Robak, Laurie Bostwick, Bret L Schaaf, Christian P Potocki, Lorraine Scaglia, Fernando Bacino, Carlos A Hanchard, Neil A Wangler, Michael F Scott, Daryl Brown, Chester Hu, Jianhong Belmont, John W Burrage, Lindsay C Graham, Brett H Sutton, Vernon Reid Craigen, William J Plon, Sharon E Lupski, James R Beaudet, Arthur L Gibbs, Richard A Muzny, Donna M Miller, Marcus J Wang, Xia Leduc, Magalie S Xiao, Rui Liu, Pengfei Shaw, Chad Walkiewicz, Magdalena Bi, Weimin Xia, Fan Lee, Brendan Eng, Christine M Yang, Yaping Lalani, Seema R Producer: 20171212 In: JAMA pediatrics vol. 171 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)