cholesta-5,8-dien-3 beta-ol has been researched along with Genetic Diseases, X-Chromosome Linked in 2 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 0 (0.00) | 29.6817 |
| 2010's | 2 (100.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Caswell, R; Dobbie, A; Hartill, VL; Hobson, E; Koster, J; Manning, N; Santra, S; Tysoe, C; Walter, J; Waterham, H | 1 |
| Artigas, M; Cañueto, J; Ciria, S; Fernández-Burriel, M; García, JL; García-Dorado, J; García-Patos, V; Garcia-Silva, MT; Girós, M; González-Sarmiento, R; Hernández-Martín, A; Martín-Hernández, E; Martínez, F; Pi-Castán, G; Rosell, J; Sánchez-Tapia, EM; Tejedor, M; Torrelo, A; Unamuno, P; Valero, J; Vendrell, T; Virós, A | 1 |
1 review(s) available for cholesta-5,8-dien-3 beta-ol and Genetic Diseases, X-Chromosome Linked
| Article | Year |
|---|---|
Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature.
Topics: Adult; Cholestadienols; Cholesterol; Chondrodysplasia Punctata; DNA Mutational Analysis; Female; Genetic Diseases, X-Linked; Genotype; Humans; Infant; Mutation; Phenotype; Spain; Steroid Isomerases; X Chromosome Inactivation | 2012 |
1 other study(ies) available for cholesta-5,8-dien-3 beta-ol and Genetic Diseases, X-Chromosome Linked
| Article | Year |
|---|---|
An unusual phenotype of X-linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene.
Topics: Adult; Child; Cholestadienols; Developmental Disabilities; Genes, X-Linked; Genetic Diseases, X-Linked; Humans; Infant; Male; Mental Disorders; Mutation; Pedigree; Phenotype; Steroid Isomerases; Young Adult | 2014 |