Showing results (2301-2310 of 5,734) with videos related to
Sort By:
Pageof 574
Human Mutation|November 3, 2000
Hepatocyte nuclear factor 1 alpha (HNF-1 alpha) mutations in maturity-onset diabetes of the youngS EllardHuman Mutation|November 3, 2000
PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian familiesC Bjursell, A Erlandson, M Nordling, et al.Human Mutation|November 3, 2000
Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: lack of genotype-phenotype correlationY Wang, F Taroni, B Garavaglia, et al.Human Mutation|November 3, 2000
Genetic heterogeneity of glycogen storage disease type Ia in France: a study of 48 patientsP Trioche, J Francoual, J Chalas, et al.Human Mutation|November 3, 2000
Novel splicing and missense mutations in autosomal dominant polycystic kidney disease 1 (PKD1) gene: expression of mutated genesG Aguiari, S Savelli, M Garbo, et al.Human Mutation|November 3, 2000
Pharmacogenetics of catechol-O-methyltransferase: frequency of low activity allele in a Ghanaian populationM M Ameyaw, A C Syvänen, I Ulmanen, et al.Human Mutation|November 3, 2000
Recurrent and novel mutations of GCDH gene in Chinese glutaric acidemia type I familiesN L Tang, J Hui, L K Law, et al.Human Mutation|July 20, 2001
Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndromeJ M Hertz, I Juncker, U Persson, et al.Human Mutation|July 20, 2001
Molecular analysis of 40 Italian patients with mucopolysaccharidosis type II: New mutations in the iduronate-2-sulfatase (IDS) geneM Filocamo, G Bonuccelli, F Corsolini, et al.Human Mutation|August 29, 2001
RNase cleavage-based methods for mutation/SNP detection, past and presentM M GoldrickPageof 574