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Orphanet Journal of Rare Diseases|March 19, 2020
Abnormally increased carotid intima media-thickness and elasticity in patients with Morquio A diseaseRaymond Y Wang, Kyle D Rudser, Donald R Dengel, et al.Brain : a Journal of Neurology|March 4, 2009
Retinotopically defined primary visual cortex in Williams syndromeRosanna K Olsen, J Shane Kippenhan, Shruti Japee, et al.The Journal of Pediatrics|July 22, 2017
Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month ExperienceBarbara K Burton, Joel Charrow, George E Hoganson, et al.Human Mutation|February 12, 2019
Kilquist syndrome: A novel syndromic hearing loss disorder caused by homozygous deletion of SLC12A2Ellen F Macnamara, Alanna E Koehler, Precilla D'Souza, et al.International Journal of Neonatal Screening|October 19, 2020
Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 InfantsBarbara K Burton, Joel Charrow, George E Hoganson, et al.American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|April 29, 2010
Inversion of the Williams syndrome region is a common polymorphism found more frequently in parents of children with Williams syndromeHolly H Hobart, Colleen A Morris, Carolyn B Mervis, et al.Journal of Medical Genetics|July 18, 2015
Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathyWendy K Chung, Kimberly Martin, Chaim Jalas, et al.The Journal of Pediatrics|September 4, 2019
Population-Based Newborn Screening for Mucopolysaccharidosis Type II in Illinois: The First Year ExperienceBarbara K Burton, George E Hoganson, Julie Fleischer, et al.American Journal of Medical Genetics. Part A|April 23, 2015
Children with 7q11.23 duplication syndrome: psychological characteristicsCarolyn B Mervis, Bonita P Klein-Tasman, Myra J Huffman, et al.American Journal of Human Genetics|May 15, 2012
Duplication of GTF2I results in separation anxiety in mice and humansCarolyn B Mervis, Joana Dida, Emily Lam, et al.Pageof 10