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Human Mutation|September 30, 1999
Glucose-6-phosphate dehydrogenase (G6PD) variants in Malaysian ChineseO Ainoon, J Joyce, N Y Boo, et al.Human Mutation|September 30, 1999
Acute intermittent porphyria: characterization of two novel mutations in the porphobilinogen deaminase gene, one amino acid deletion (453-455delAGC) and one splicing aceptor site mutation (IVS8-1G>T)A De Siervi, M Mendez, V E Parera, et al.Human Mutation|September 30, 1999
Somatic mutations of the first 14 exons of APC in hamartomatous polyps of the colonJ C Kim, S A Roh, H C Kim, et al.Human Mutation|September 30, 1999
Identification of a novel R21X mutation in the liver-type arginase gene (ARG1) in four Portuguese patients with argininemiaM L Cardoso, E Martins, R Vasconcelos, et al.Human Mutation|May 25, 1999
Guidelines and recommendations for content, structure, and deployment of mutation databasesC R Scriver, P M Nowacki, H LehväslaihoHuman Mutation|May 25, 1999
Molecular genetic study of Pompe disease in Chinese patients in TaiwanT M Ko, W L Hwu, Y W Lin, et al.Human Mutation|May 25, 1999
Rapid screening of the LDL receptor point mutation FH-Genoa/Palermo. Mutation in brief no. 238. OnlineG Marino, S Travali, T Reyes, et al.Human Mutation|October 26, 1999
Townes-Brocks syndrome: detection of a SALL1 mutation hot spot and evidence for a position effect in one patientS Marlin, S Blanchard, R Slim, et al.Human Mutation|October 26, 1999
Molecular studies in 20 submicroscopic neurofibromatosis type 1 gene deletionsC Lopez Correa, H Brems, C Lázaro, et al.Human Mutation|October 26, 1999
Mutation screening of the entire coding regions of the TSC1 and the TSC2 gene with the protein truncation test (PTT) identifies frequent splicing defectsK Mayer, W Ballhausen, H D RottPageof 577