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JCI Insight|January 29, 2020
Chronic liver disease and impaired hepatic glycogen metabolism in argininosuccinate lyase deficiencyLindsay C Burrage, Simran Madan, Xiaohui Li, et al.Human Molecular Genetics|June 7, 2020
A global Slc7a7 knockout mouse model demonstrates characteristic phenotypes of human lysinuric protein intoleranceBridget M Stroup, Ronit Marom, Xiaohui Li, et al.American Journal of Human Genetics|August 4, 2018
Argininosuccinate Lyase Deficiency Causes an Endothelial-Dependent Form of HypertensionJordan Kho, Xiaoyu Tian, Wing-Tak Wong, et al.American Journal of Human Genetics|January 24, 2012
Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndromePhilippe M Campeau, Jaeseung C Kim, James T Lu, et al.The Journal of Clinical Investigation|June 17, 2024
The IFITM5 mutation in osteogenesis imperfecta type V is associated with an ERK/SOX9-dependent osteoprogenitor differentiation defectRonit Marom, I-Wen Song, Emily C Busse, et al.American Journal of Human Genetics|August 27, 2021
COPB2 loss of function causes a coatopathy with osteoporosis and developmental delayRonit Marom, Lindsay C Burrage, Rossella Venditti, et al.Pageof 7