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Human Mutation|February 12, 2000
Mutations of the human P gene associated with Type II oculocutaneous albinism (OCA2). Mutations in brief no. 205. OnlineW S Oetting, J M Gardner, J P Fryer, et al.Human Mutation|February 12, 2000
Twelve novel RB1 gene mutations in patients with hereditary retinoblastoma. Mutations in brief no. 206. OnlineS Yilmaz, B Horsthemke, D R LohmannHuman Mutation|January 29, 2000
Sequence variants of DLC1 in colorectal and ovarian tumoursP J Wilson, E McGlinn, A Marsh, et al.Human Mutation|January 29, 2000
Glucocerebrosidase gene mutations in patients with type 2 Gaucher diseaseD L Stone, N Tayebi, E Orvisky, et al.Human Mutation|July 17, 1999
Mutations of the VHL gene in sporadic renal cell carcinoma: definition of a risk factor for VHL patients to develop an RCCC Gallou, D Joly, A Méjean, et al.Human Mutation|July 17, 1999
Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disordersZ Zhang, Y Suzuki, N Shimozawa, et al.Human Mutation|July 17, 1999
Mutational-screening in the factor VIII gene resulting in the identification of three novel mutations, one of which is a donor splice mutation. Mutations in brief no. 245. OnlineK Möller-Morlang, K Tavassoli, A Eigel, et al.Human Mutation|April 3, 1999
Novel mutations in African American patients with glycogen storage disease Type II. Mutations in brief no. 209. OnlineN Raben, E Lee, L Lee, et al.Human Mutation|July 29, 1999
Update of the androgen receptor gene mutations databaseB Gottlieb, L K Beitel, R Lumbroso, et al.Human Mutation|July 29, 1999
Clinical spectrum of fibroblast growth factor receptor mutationsM R Passos-Bueno, W R Wilcox, E W Jabs, et al.Pageof 574