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1041“…The InCHOIR lecture series has covered a wide range of topics including, but not limited to: Decision Models; Race and Causal Inference; Innovative Strategies for Assessing Environmental Health across the Life Course; Statistics for Geneticists and Genetics for Statisticians; and From the Lab to Translation to Policy—The Neuroscience of Addiction. …”
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1042“…Early diagnosis and teamwork intervention, including geneticists, neurologists, rehabilitation physicians, and pulmonologists, are important. …”
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1043por Robboy, Stanley J., Gross, David, Park, Jason Y., Kittrie, Elizabeth, Crawford, James M., Johnson, Rebecca L., Cohen, Michael B., Karcher, Donald S., Hoffman, Robert D., Smith, Anthony T., Black-Schaffer, W. Stephen“…An additional discrepancy relates to the ACGME residency (specialties) and fellowship (subspecialties) training programs in which pathologists with training in dermatopathology appear as dermatologists and pathologists with training in molecular genetic pathology appear as medical geneticists. CONCLUSIONS AND RELEVANCE: This analysis found that most sources reported only select categories of the pathologist workforce rather than the complete workforce. …”
Publicado 2020
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1044por Dong, Lin, Zou, Shuangmei, Jin, Xianglan, Lu, Haizhen, Zhang, Ye, Guo, Lei, Cai, Jianqiang, Ying, Jianming“…CONCLUSION: Our study demonstrates that the rare cytoplasmic MSH2 staining pattern should be fully recognized by pathologists and geneticists. Given the specific genotype-phenotype correlation in LS screening, we advocate that all CRC patients with cytoplasmic MSH2 staining in histology should be screened for LGRs of EPCAM and MSH2.…”
Publicado 2021
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1045por Dauda, Bege, Molina, Santiago J., Allen, Danielle S., Fuentes, Agustin, Ghosh, Nayanika, Mauro, Madelyn, Neale, Benjamin M., Panofsky, Aaron, Sohail, Mashaal, Zhang, Sarah R., Lewis, Anna C. F.“…For some ancestry is a genetic concept, but for many—including geneticists—ancestry is only tangentially related to genetics. …”
Publicado 2023
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1046por Maryami, Fereshteh, Rismani, Elham, Davoudi-Dehaghani, Elham, Khalesi, Nasrin, Motlagh, Fatemeh Zafarghandi, Kordafshari, Alireza, Talebi, Saeed, Rahimi, Hamzeh, Zeinali, Sirous“…Furthermore, as an auxiliary technique, homology modeling and protein structure and function evaluations could provide geneticists with a more accurate interpretation of variants’ pathogenicity. …”
Publicado 2023
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1047por Rim, John Hoon, Kim, Se Hee, Hwang, In Sik, Kwon, Soon Sung, Kim, Jieun, Kim, Hyun Woo, Cho, Min Jung, Ko, Ara, Youn, Song Ee, Kim, Jihun, Lee, Young Mock, Chung, Hee Jung, Lee, Joon Soo, Kim, Heung Dong, Choi, Jong Rak, Lee, Seung-Tae, Kang, Hoon-Chul“…Each case was further discussed in a monthly consensus meeting that included the participation of all laboratory personnel, bioinformaticians, geneticists, and clinicians. RESULTS: The NGS panel identified 28 patients (37.8%) with genetic abnormalities; 25 patients had pathogenic or likely pathogenic SNVs in 17 genes including SXTBP1 (n = 3), CDKL5 (n = 2), KCNQ2 (n = 2), SCN1A (n = 2), SYNGAP1 (n = 2), GNAO1 (n = 2), KCNT1 (n = 2), BRAT1, WWOX, ZEB2, CHD2, PRICKLE2, COL4A1, DNM1, SCN8A, MECP2, SLC9A6 (n = 1). …”
Publicado 2018
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1048por Xue, Huabai, Zhang, Pujuan, Shi, Ting, Yang, Jian, Wang, Long, Wang, Suke, Su, Yanli, Zhang, Huirong, Qiao, Yushan, Li, Xiugen“…In the past decade, significant progress has been made in pear molecular genetics based on DNA research, but the number of molecular markers is still quite limited, which hardly satisfies the increasing needs of geneticists and breeders. RESULTS: In this study, a total of 156,396 simple sequence repeat (SSR) loci were identified from a genome sequence of Pyrus bretschneideri ‘Dangshansuli’. …”
Publicado 2018
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1049por Montanari, Sara, Bianco, Luca, Allen, Brian J., Martínez-García, Pedro J., Bassil, Nahla V., Postman, Joseph, Knäbel, Mareike, Kitson, Biff, Deng, Cecilia H., Chagné, David, Crepeau, Marc W., Langley, Charles H., Evans, Kate, Dhingra, Amit, Troggio, Michela, Neale, David B.“…The characterization of the USDA-NCGR collection with this array will provide important information for pear geneticists and breeders, as well as for the optimization of conservation strategies for Pyrus. …”
Publicado 2019
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1050“…Discovery of these hyper-recombinant chromosomes points to the existence of a sporadically acting mechanism that, if identified and manipulable, could be usefully harnessed for multiple purposes by geneticists and breeders.…”
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1051por Kato, Shumei, Kim, Ki Hwan, Lim, Hyo Jeong, Boichard, Amelie, Nikanjam, Mina, Weihe, Elizabeth, Kuo, Dennis J., Eskander, Ramez N., Goodman, Aaron, Galanina, Natalie, Fanta, Paul T., Schwab, Richard B., Shatsky, Rebecca, Plaxe, Steven C., Sharabi, Andrew, Stites, Edward, Adashek, Jacob J., Okamura, Ryosuke, Lee, Suzanna, Lippman, Scott M., Sicklick, Jason K., Kurzrock, Razelle“…To implement a precision strategy, we initiated a multidisciplinary (basic/translational/clinical investigators, bioinformaticians, geneticists, and physicians from multiple specialties) molecular tumor board (MTB), which included a project manager to facilitate obtaining clinical-grade biomarkers (blood/tissue NGS, specific immunohistochemistry/RNA expression including for immune-biomarkers, per physician discretion) and medication-acquisition specialists/clinical trial coordinators/navigators to assist with medication access. …”
Publicado 2020
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1052por Selle, Maria L., Steinsland, Ingelin, Powell, Owen, Hickey, John M., Gorjanc, Gregor“…BACKGROUND: Breeders and geneticists use statistical models to separate genetic and environmental effects on phenotype. …”
Publicado 2020
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1053por Sodi, Andrea, Banfi, Sandro, Testa, Francesco, Della Corte, Michele, Passerini, Ilaria, Pelo, Elisabetta, Rossi, Settimio, Simonelli, Francesca“…Supported by an extensive review of the literature, a series of statements were developed and refined to prepare precisely constructed questionnaires that were circulated among an external panel of experts comprising ophthalmologists (retina specialists, vitreoretinal surgeons) and geneticists with extensive experience in IRDs in Italy in a two-round Delphi process. …”
Publicado 2021
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1054“…This review describes a catalogue of alleles found in QTL studies by barley geneticists, corresponding to the genetic diversity at major flowering time genes, the main drivers of barley phenological adaptation: VRN-H1 (HvBM5A), VRN-H2 (HvZCCTa-c), VRN-H3 (HvFT1), PPD-H1 (HvPRR37), PPD-H2 (HvFT3), and eam6/eps2 (HvCEN). …”
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1055por Tylki-Szymańska, Anna, Almássy, Zsuzsanna, Christophidou-Anastasiadou, Violetta, Avdjieva-Tzavella, Daniela, Barisic, Ingeborg, Cerkauskiene, Rimante, Cuturilo, Goran, Djiordjevic, Maja, Gucev, Zoran, Hlavata, Anna, Kieć-Wilk, Beata, Magner, Martin, Pecin, Ivan, Plaiasu, Vasilica, Samardzic, Mira, Zafeiriou, Dimitrios, Zaganas, Ioannis, Lampe, Christina“…Besides, educational programs dedicated to specialists should be implemented, particularly for pediatricians, clinical geneticists, surgeons, anesthesiologists and neurologists.…”
Publicado 2022
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1056por Hasseb, Nouran M., Sallam, Ahmed, Karam, Mohamed A., Gao, Liangliang, Wang, Richard R. C., Moursi, Yasser S.“…As yield was the ultimate goal of breeders and geneticists, less attention has been paid to understanding the genetic architecture of salt tolerance at early stages. …”
Publicado 2022
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1057por Dardis, A., Michelakakis, H., Rozenfeld, P., Fumic, K., Wagner, J., Pavan, E., Fuller, M., Revel-Vilk, S., Hughes, D., Cox, T., Aerts, J.“…Therefore, a guideline development group consisting of biochemists and geneticists working in the field of GD diagnosis was established and a list of topics to be discussed was selected. …”
Publicado 2022
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1058“…This has led to several data management problems, one of which is data dispersion (i.e., genomics data is scattered across hundreds of data repositories). In this context, geneticists try to remediate the above-mentioned problem by limiting the scope of their work to a single data source they know and trust. …”
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1059“…BACKGROUND: It has been an abiding belief among geneticists that multicellular organisms’ genomes can be analyzed under the assumption that a single individual has a uniform genome in all its cells. …”
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1060“…By means of GrabBlur human geneticists can securely and easily share SNV data from resequencing projects. …”
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