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Showing 161 - 180 results of 262 for search '"A.C.G.T"', query time: 5.80s Refine Results
  1. 161
    Isolated p.H62L Mutation in the CYP21A2 Gene in a Simple Virilizing 21-Hydroxylase Deficient Patient
    “... in compound heterozygosity with c.283-13A/C>G mutation is described. Although a mildly nonclassical phenotype...”
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    Article
  2. 162
    Genotype-phenotype correlation in 27 pediatric patients in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in a single center
    “... mutations revealed that intron 2 splice site (c.293-13A/C>G) mutations and large deletions were the most...”
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    Article
  3. 163
    Effects of single and duplicate infusions of 250mL of saline solution in the cytological evaluation of bronchoalveolar lavage in equines
    “...ABSTRACT. Viscardi V., Lopes A.C.G., Beling J.C.F., Gioia G.V., Torres Filhos R.A., Lessa D.A.B...”
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  4. 164
    A genetic variant in the promoter of lncRNA MALAT1 is related to susceptibility of ischemic stroke
    “... that rs600231-rs1194338-rs4102217-rs591291 (A-C-G-C) had a 1.3-fold increased risk of IS (95% CI, 1.029...”
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  5. 165
    Assessing alternative base substitutions at primer CpG sites to optimise unbiased PCR amplification of methylated sequences
    “... increased with annealing temperature. Amplification using primers with an A/C/G/T (N) degeneracy...”
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  6. 166
    Two four-marker haplotypes on 7q36.1 region indicate that the potassium channel gene <it>HERG1 </it>(<it>KCNH2</it>, <it>Kv11.1</it>) is related to schizophrenia: a case control study
    “...-T, the at-risk haplotype, <it>P </it>= 0.0007) or underrepresented (C-A-C-G, the protective haplotype, <it>P...”
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  7. 167
    Characterization of transcription from TATA-less promoters: identification of a new core promoter element XCPE2 and analysis of factor requirements.
    “... element XCPE2 (X core promoter element 2) (consensus sequence: A/C/G-C-C/T-C-G/A-T-T-G/A-C-C/A(+1)-C...”
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  8. 168
    Risk Factors and Genotypes of Hepatitis C Virus Infection in Libyan Patients
    by Alashek WA, Altagdi M
    Published 2008-01-01
    “..., b, c and a/c, G3a and G4a and c/d). All genotypes of HCV were more common among males(P<0.001...”
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  9. 169
    Reflexões sobre o método de Nise da Silveira
    “... relevância e ineditismo, seu trabalho impressionou colegas, artistas, críticos de arte e, também, a C.G. Jung...”
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  10. 170
    Study of Algorithm and Hardware Design for Genome Reassembly by Short Reads
    by Bo-Yi Chang, 張柏毅
    Published 2012
    “.... It is the DNA sequence in cell nuclei. DNA sequences consist of four types of nucleobases - A, C, G and T. A DNA...”
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  11. 171
    Esteróis e triterpenos de Ganoderma australe (Fr.) Pat. com perspectivas de uso medicinal
    by Gerber, Alexandra Lehmkuhl
    Published 2012
    “...: ácidos aplanoxídicos A, C, G e F. Este estudo abre diversas perspectivas de investigações, tais como a...”
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  12. 172
    A novel missense mutation in the C-terminal domain of lipoprotein lipase (Glu410–>Val) leads to enzyme inactivation and familial chylomicronemia.
    “... at nucleotide 1484 resulting in a Glu410–>Val substitution and a C–>G mutation at position 1595 that introduces...”
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  13. 173
    Sequence specific recognition and photocleavage of DNA by phenanthrenequinone diimine complexes of rhodium(III)
    by Sitlani, Ayesha
    Published 1993
    “... that are defined by the consensus sequences 5'-C-T-pu/py-G-3' and 5'-A-C/G-T-C/G-3', respectively. This sequence...”
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  14. 174
    PRImary care Streptococcal Management (PRISM) study: identifying clinical variables associated with Lancefield group A ?-haemolytic streptococci and Lancefield non-Group A streptococcal throat infections from two cohorts of patients presenting with an acute sore throat
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  15. 175
    Estudo molecular da hiperplasia adrenal congenita por deficiencia da enzima 21-hidroxilase correlação genotipo-fenotipo
    by Torres, Natalia
    Published 2002
    “... freqüentemente encontrada a mutação I172N (20,4%), seguida da V281L (18,2%), IVS2, A/C>G,-12 (Sp2) (14,0%) e R356...”
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  16. 176
    The spectrum of CYP21A2 gene mutations in patients with classic salt wasting form of 2l‐hydroxylase deficiency in a Chinese cohort
    “...‐conversion mutation IVS2‐13A/C>G (70.5%) is most common in our cohort, followed by large gene deletions...”
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    Article
  17. 177
    Studies of the ovarian tumour suppressor protein OPCML with a view to determining its structure and understanding its role in modulating RTK signalling
    by Zanini, Elisa
    Published 2013
    “... of our analysis of a previously identified somatic missense mutation in a primary ovarian tumour, a C-G...”
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  18. 178
    DHA intake interacts with ELOVL2 and ELOVL5 genetic variants to influence polyunsaturated fatty acids in human milk
    “...) correlated with PUFA changes. Compared with those who had the 5-SNP haplotype C-A-C-G-A and low DHA intake...”
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  19. 179
    Genetic polymorphism in DGCR8 is associated with late onset of preeclampsia
    by Xin Huang, Zuodong Li, Jun Lei, Dapeng Wang, Yujing Zhang
    Published 2019-09-01
    “... = 1.40e-7). The DGCR8 rs1558496/ rs1640299/ rs720012/ rs720014/ rs9606241 haplotype T-G-A-C-A and T-G-A-C...”
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  20. 180
    Clinical and molecular profile of newborns with confirmed or suspicious congenital adrenal hyperplasia detected after a public screening program implementation
    “...-13A/C>G followed by gene deletion or rearrangement events in the classical form. In non-classical...”
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    Article
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