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Mostrando 81 - 100 Resultados de 121 Para Buscar '"Aladin"', tiempo de consulta: 0.14s Limitar resultados
  1. 81
    “…In some individuals with this disorder, genetic examination indicates mutations in both alleles of the AAAS gene, which encodes a special 546-amino-acid protein designated ALADIN, and in chromosome 12q13. The genetic cause of the triple A syndrome in some patients who do not have an identified mutation is unknown. …”
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  2. 82
    “…The triple A syndrome gene, designated AAAS, localized on chromosome 12q 13 encodes for a 546 amino acid protein called ALADIN (Alacrimia-Achlasia-Adrenal Insufficiency and Neurologic disorder). …”
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  5. 85
    “…We compared the proposed algorithm with artificial neural networks, random forests, support vector machines, and linear regression to demonstrate the superiority of the algorithm’s performance on a data set comprising five years of real data measurements at the Croatian bridge “Krk” and complementary historical forecasts by ALADIN (Aire Limitée Adaptation dynamique Développement InterNational) numerical weather prediction model.…”
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  6. 86
    “…The unbound nuclei He-9 and He-10 have been produced in proton-knockout reactions from a 280 MeV/u Li-11 beam impinging on a liquid hydrogen target at the ALADIN-LAND setup at GSI. Information on their nuclear structure has been obtained from the relative-energy spectra, He-8 + n and He-8 + 2n, employing reaction models incorporating the structure of Li-11. …”
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  7. 87
    “…Allgrove or triple A syndrome (AS or AAA) is a rare autosomal recessive syndrome with variable phenotype due to mutations in AAAS gene which encodes a protein called ALADIN. Generally, it’s characterized by of adrenal insufficiency in consequence of adrenocorticotropic hormone (ACTH) resistance, besides of achalasia, and alacrimia. …”
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  8. 88
    “…It consists of 16 exons, encoding for a 546 aminoacid protein called ALADIN (Alacrimia-Achalasia-aDrenal Insufficiency Neurologic disorder). …”
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  9. 89
    “…AAAS gene sequencing showed homozygous mutations of AAAS gene on chromosome 12q13 which encodes ALADIN. Based on clinical features and investigation noted upon presentation to our clinic, followed by genetic testing, the diagnosis of AAA syndrome (or Allgrove syndrome) was made. …”
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  10. 90
    “…Six Nup155 molecules interact with the central scaffold and together with the NDC1–ALADIN hetero-dimers anchor the IR subunit to the nuclear envelope and to outer rings. …”
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  11. 91
    “…RESULTS: Using the analysis of microarray data available for grapevine, six possible reference genes were selected for RT-qPCR validation: PADCP, ubiq, TIF, TIF-GTP, VH1-IK, aladin-related. Two additional genes that are commonly used as reference genes were included: act and L2. …”
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  12. 92
    “…Although ECMWF is currently the global weather system with the highest horizontal resolution, this resolution is still two times worse than the one offered by limited area (regional) numeric models (e.g., ALADIN that is used in many European and north African countries). …”
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  13. 93
    “…Allgrove’s syndrome is an inherited condition caused by mutations in the AAAS gene (encoding the protein ALADIN) and is inherited in an autosomal recessive pattern (1). …”
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  14. 94
    “…It is caused by a variety of mutations in the AAAS genes which encode a protein of unknown function called ALADIN. Diagnosis depends on clinical manifestations, laboratory test results, imaging and endoscopic findings, and Schirmer’s test. …”
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  15. 95
    “…It is caused by a mutation in the AAAS gene (12q13) encoding the protein ALADIN (1). This syndrome is often associated with neurological dysfunction disorders, amyotrophy, in such cases, it is named 4A and 5A syndrome, but sometimes there is also 2A syndrome. …”
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  16. 96
    “…The novel variant c.399 + 1G > A in the AAAS gene was further confirmed to lead to exon 4 skipping during mRNA transcription and produce a truncated ALADIN protein. CONCLUSIONS: We found ethnicity-based differences in the CYP21A2 gene variant spectrum among different study populations. …”
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  17. 97
    Libro
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