Mostrando 181 - 200 Resultados de 3,173 Para Buscar '"ALMS"', tiempo de consulta: 0.18s Limitar resultados
  1. 181
    “…A final panel of nine genes (PLXNC1, KIAA0649, SPTBN4, SLC14A2, F13A1, COL5A1, SCN2A, PLEC, and ALMS1) was identified, and achieved an area under the curve (AUC) of 0.873 ± 0.004. …”
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  2. 182
    “…METHODS: We developed a reverse phenotyping strategy to identify 100K participants with pathogenic variants in nine prioritised disease genes (BBS1, BBS10, ALMS1, OFD1, DYNC2H1, WDR34, NPHP1, TMEM67, CEP290), representative of the full phenotypic spectrum of multisystemic primary ciliopathies. …”
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  3. 183
    Publicado 1997
    Tabla de Contenidos: “…Cinco canciones para niños / de Silvestre Revueltas -- Siete canciones populares / de Manuel de Falla -- Cinco canciones: La siempre viva ; Ay, que el alme ; Se equivocó la paloma ; Severa Villafañe ; El sampedrino / de Carlos Guastavino -- Dos canciones: Canción de la barca triste ; Nana para un niño que se llama Rafael / de Salvador Moreno -- Cuando dos / de Jesús Echevarria.…”
    CD Audiom
  4. 184
    “…Mutations in few important genes (SRP54, ERBB4, NEB, ALMS, ALAD, MTHFR, F5, and APOE), which are involved in vital pathways, early embryonic development, and fetal demise, were identified in the POCs. …”
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  5. 185
  6. 186
    “…Genes with a potential role in dental caries in the eight chromosomal regions include CACNA1E, LAMC2, ALMS1, STAMBP, GXYLT2, SLC12A2, MEGF10, TMEM181, ARID1B, and, as well as genes in several immune gene families. …”
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  7. 187
    “…Genetic testing included a ciliopathy panel that was negative followed by WGS that identified biallelic variants in ALMS: a novel frame-shift pathogenic variant c.6525dupT (p.Gln2176Serfs*17) and a rare nonsense pathogenic variant c.2035C > T (p.Arg679Ter) consistent with Alstrom syndrome. …”
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  8. 188
    “…In addition, a ceRNA network including 8 lncRNAs (e.g., LINC00324, SNHG12, and ALMS1-IT1), 7 miRNAs (e.g., hsa-miR-217, hsa-miR-184, and hsa-miR-140-5p), and 52 mRNAs (e.g., IGFBP5, TMED5, and MAGT1) was constructed. …”
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  9. 189
  10. 190
    “…CONCLUSION: Fifteen kinds of lncRNAs with different expressions (AP003555.1, AC099850.3, AL031985.3, LINC01857, STPG3-AS1, AL137782.1, AC124067.4, AC012313.5, AC083900.1, AC010973.2, ALMS1-IT1, AC013652.1, AC133540.1, AP006621.2, AC018653.3) were closely associated with poor prognosis of colorectal cancer. …”
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  11. 191
    por Lunetta, Kathryn L., Day, Felix R., Sulem, Patrick, Ruth, Katherine S., Tung, Joyce Y., Hinds, David A., Esko, Tõnu, Elks, Cathy E., Altmaier, Elisabeth, He, Chunyan, Huffman, Jennifer E., Mihailov, Evelin, Porcu, Eleonora, Robino, Antonietta, Rose, Lynda M., Schick, Ursula M., Stolk, Lisette, Teumer, Alexander, Thompson, Deborah J., Traglia, Michela, Wang, Carol A., Yerges-Armstrong, Laura M., Antoniou, Antonis C., Barbieri, Caterina, Coviello, Andrea D., Cucca, Francesco, Demerath, Ellen W., Dunning, Alison M., Gandin, Ilaria, Grove, Megan L., Gudbjartsson, Daniel F., Hocking, Lynne J., Hofman, Albert, Huang, Jinyan, Jackson, Rebecca D., Karasik, David, Kriebel, Jennifer, Lange, Ethan M., Lange, Leslie A., Langenberg, Claudia, Li, Xin, Luan, Jian'an, Mägi, Reedik, Morrison, Alanna C., Padmanabhan, Sandosh, Pirie, Ailith, Polasek, Ozren, Porteous, David, Reiner, Alex P., Rivadeneira, Fernando, Rudan, Igor, Sala, Cinzia F., Schlessinger, David, Scott, Robert A., Stöckl, Doris, Visser, Jenny A., Völker, Uwe, Vozzi, Diego, Wilson, James G., Zygmunt, Marek, Boerwinkle, Eric, Buring, Julie E., Crisponi, Laura, Easton, Douglas F., Hayward, Caroline, Hu, Frank B., Liu, Simin, Metspalu, Andres, Pennell, Craig E., Ridker, Paul M., Strauch, Konstantin, Streeten, Elizabeth A., Toniolo, Daniela, Uitterlinden, André G., Ulivi, Sheila, Völzke, Henry, Wareham, Nicholas J., Wellons, Melissa, Franceschini, Nora, Chasman, Daniel I., Thorsteinsdottir, Unnur, Murray, Anna, Stefansson, Kari, Murabito, Joanne M., Ong, Ken K., Perry, John R. B.
    Publicado 2015
    “…Five missense/nonsense variants (in ALMS1/LAMB2/TNRC6A/TACR3/PRKAG1) are associated with age at menarche (minor allele frequencies 0.08–4.6%; effect sizes 0.08–1.25 years per allele; P<5 × 10(−8)). …”
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  12. 192
    “…METHODS: Subjects comprised 1026 men and 952 women between 40 and 79 years old at baseline (1997–2000) who participated in the National Institute for Longevity Sciences - Longitudinal Study of Aging, Japan. ALM (kg) and 5 adjusted indices of ALM (ALM/leg length, ALM/height, ALM/height(2), ALM/weight, and ALM/body mass index [BMI]) were assessed at baseline. …”
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  13. 193
    por Susok, Laura, Gambichler, Thilo
    Publicado 2021
    “…METHODS: We studied 63 patients with ALM and 63 randomly stage- and limb-matched patients with SSM (non-ALM). …”
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  14. 194
    “…Previous cross-sectional studies have indicated that low relative appendicular lean mass (ALM) against body weight (divided by body weight, ALM/Wt, or divided by body mass index, ALM/BMI) was negatively associated with metabolic syndrome (MetS). …”
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  15. 195
    “…Appendicular lean mass index (ALMI, kg/m(2)), fat mass index (FMI, kg/m(2)), FMI-adjusted ALMI (ALM(fmi)), ratio of ALM to weight index (ALM(wt)), ratio of ALM to body mass index (ALM(bmi)) and ratio of ALM to truncal fat index (ALM(trunkfat)) were measured by dual energy X-ray absorptiometry in 17,870 participants from 2008 to 2011. …”
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  16. 196
  17. 197
    “…Here, we present the mechanistic determination of initial steps in the AlmEFG pathway. We verify that AlmF is an aminoacyl carrier protein and identify AlmE as the enzyme required to activate AlmF as a functional carrier protein. …”
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  18. 198
    “…The main objective of this study was to examine the reduction of the bioavailable fractions of As and Pb in paddy soil with artificial lightweight material (ALM) manufactured from recycled materials. A total of four treatments, including a control (no amendment), ALM10 (10% of ALM in soil), ALM10+L (10% ALM combined with 0.5% lime), and ALM10+FeO (10% ALM combined with 0.5% FeO), were applied to paddy fields, and rice (Oryza sativa L.) was cultivated after 32 weeks. …”
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  19. 199
    “…Risk factors of recurrence and distant metastasis of acral lentiginous melanoma (ALM) are of great interest for the high percentage of ALM in cutaneous melanoma in Asian populations. …”
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  20. 200
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