Auswahl der wissenschaftlichen Literatur zum Thema „Chromosomes, Human, 21-22 and Y“

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Zeitschriftenartikel zum Thema "Chromosomes, Human, 21-22 and Y"

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Clay, Oliver, and Giorgio Bernardi. "The Isochores in Human Chromosomes 21 and 22." Biochemical and Biophysical Research Communications 285, no. 4 (2001): 855–56. http://dx.doi.org/10.1006/bbrc.2001.5176.

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Federico, Concetta, Desiree Brancato, Francesca Bruno, Daiana Galvano, Mariella Caruso, and Salvatore Saccone. "Robertsonian Translocation between Human Chromosomes 21 and 22, Inherited across Three Generations, without Any Phenotypic Effect." Genes 15, no. 6 (2024): 722. http://dx.doi.org/10.3390/genes15060722.

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Chromosomal translocations can result in phenotypic effects of varying severity, depending on the position of the breakpoints and the rearrangement of genes within the interphase nucleus of the translocated chromosome regions. Balanced translocations are often asymptomatic phenotypically and are typically detected due to a decrease in fertility resulting from issues during meiosis. Robertsonian translocations are among the most common chromosomal abnormalities, often asymptomatic, and can persist in the population as a normal polymorphism. We serendipitously discovered a Robertsonian transloca
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Weier, Jingly F., Christy Ferlatte, Adolf Baumgartner, Ha Nam Nguyen, Beatrice A. Weier, and Heinz-Ulrich G. Weier. "Analysis of human invasive cytotrophoblasts demonstrates mosaic aneuploidy." PLOS ONE 18, no. 7 (2023): e0284317. http://dx.doi.org/10.1371/journal.pone.0284317.

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A total of 24 chromosome-specific fluorescence in situ hybridization probes for interphase nucleus analysis were developed to determine the chromosomal content of individual human invasive cytotrophoblasts derived from in vitro cultured assays. At least 75% of invasive cytotrophoblasts were hyperdiploid and the total number of chromosomes ranged from 47 to 61. The results also demonstrated that these hyperdiploid invasive cytotrophoblasts showed significant heterogeneity. The most copy number gains were observed for chromosomes 13, 14, 15, 19, 21, and 22 with average copy number greater than 2
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Häring, David, and Jaroslav Kypr. "No Isochores in the Human Chromosomes 21 and 22?" Biochemical and Biophysical Research Communications 280, no. 2 (2001): 567–73. http://dx.doi.org/10.1006/bbrc.2000.4162.

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Haig, David. "A brief history of human autosomes." Philosophical Transactions of the Royal Society of London. Series B: Biological Sciences 354, no. 1388 (1999): 1447–70. http://dx.doi.org/10.1098/rstb.1999.0490.

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Comparative gene mapping and chromosome painting permit the tentative reconstruction of ancestral karyotypes. The modern human karyotype is proposed to differ from that of the most recent common ancestor of catarrhine primates by two major rearrangements. The first was the fission of an ancestral chromosome to produce the homologues of human chromosomes 14 and 15. This fission occurred before the divergence of gibbons from humans and other apes. The second was the fusion of two ancestral chromosomes to form human chromosome 2. This fusion occurred after the divergence of humans and chimpanzees
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Souza, Alan Roberto de, Aline Sayuri Minamihara, Maria Eliane Longhi Barroso, and Wagner José Martins Paiva. "Case report: A rare mosaicism on chromosome 21." Semina: Ciências Biológicas e da Saúde 38, no. 1supl (2018): 122. http://dx.doi.org/10.5433/1679-0367.2017v38n1suplp122.

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Changes in the human karyotype result in alterations with varying degrees in relation to the morphology or intellectuality of the affected individuals. In most cases, genetic alteration can lead to spontaneous abortion. Among the chromosomal anomalies, mosaicism is often found, consisting of more than one type of cell line, derived from a single zygote, that is, mosaicism is a pos zyzotic phenomenon that can originate germ cells or somatic cells. The purpose of this succinct explanation is to show the cytogenetic diagnosis of the EVS patient (1 year and 9 months old) who presented the followin
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ZHANG, L., and T. SUN. "Statistical properties of nucleotides in human chromosomes 21 and 22." Chaos, Solitons & Fractals 23, no. 3 (2005): 1077–85. http://dx.doi.org/10.1016/s0960-0779(04)00369-8.

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Diblík, Jan, Milan Macek, Maria-Cristina Magli, Roman Krejčí, and Luca Gianaroli. "Topology of Chromosomes 18 and X in Human Blastomeres from 3- to 4-Day-old Embryos." Journal of Histochemistry & Cytochemistry 53, no. 3 (2005): 273–76. http://dx.doi.org/10.1369/jhc.4b6509.2005.

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The positions of chromosomes 18 and X fluorescence in situ hybridization signals were analyzed in blastomeres generated from human in vitro fertilization 3- to 4-day-old embryos after preimplantation screening of aneuploidy of chromosomes 13, 16, 18, 21, 22, X, and Y. Fluorescent signal localization compared with a three-dimensional sphere model of random signal distribution revealed significant differences, providing evidence of peripheral localization of chromosome 18 in aneuploid ( p=0.0013) and aneuploid/euploid blastomeres ( p=0.0011). No differences were found in localization of chromoso
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Takai, Daiya, and Peter A. Jones. "Comprehensive analysis of CpG islands in human chromosomes 21 and 22." Proceedings of the National Academy of Sciences 99, no. 6 (2002): 3740–45. http://dx.doi.org/10.1073/pnas.052410099.

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Dempsey, Adam A., Noel Pabalan, HongChang Tang, and Choong-Chin Liew. "Organization of Human Cardiovascular-expressed Genes on Chromosomes 21 and 22." Journal of Molecular and Cellular Cardiology 33, no. 3 (2001): 587–91. http://dx.doi.org/10.1006/jmcc.2000.1335.

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Dissertationen zum Thema "Chromosomes, Human, 21-22 and Y"

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Kulharya, Anita S. (Anita Singh). "Cytogenetics of chromosome 22 and its clinical relevance." Thesis, University of North Texas, 1990. https://digital.library.unt.edu/ark:/67531/metadc798385/.

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This investigation reorganizes and identifies chromosomal anomalies and delineates the associated clinical findings. The present investigation involved 37 individuals with anomalies of chromosome 22. The clinical profile with the corresponding cytogenetic anomalies was studied.
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Tapia, Páez Isabel. "Characterization of human chromosome 22 : cloning of breakpoints of the constitutional translocation t(11;22)(q23;q11) and detection of small constitutional deletions by microarray CGH /." Stockholm, 2003. http://diss.kib.ki.se/2003/91-7349-505-0.

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Chern, Tzu-Ming. "Low detection of exon skipping in mouse genes orthologous to human genes on chromosome 22." Thesis, University of the Western Cape, 2002. http://etd.uwc.ac.za/index.php?module=etd&action=viewtitle&id=gen8Srv25Nme4_6894_1185440491.

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<p>Alternative RNA splicing is one of the leading mechanisms contributing towards transcript and protein diversity. Several alternative splicing surveys have confirmed the frequent occurrence of exon skipping in human genes. However, the occurrence of exon skipping in mouse genes has not yet been extensively examined. Recent improvements in mouse genome sequencing have permitted the current study to explore the occurrence of exon skipping in mouse genes orthologous to human genes on chromosome 22. A low number (5/72 multi-exon genes) of mouse exon-skipped genes were captured through alignments
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Benetkiewicz, Magdalena. "Development and Application of Human Chromosome 22 Genomic Microarray : Chromosome 22-Associated Disorders Analyzed by Array-Based Comparative Genomic Hybridization." Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis : Univ.-bibl. [distributör], 2006. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-6272.

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Machado, Melissa Pereira. "Monitoramento molecular dos transcritos BCR/ABL de pacientes com leucemia mieloide cronica em uso de imatinibe atraves da tecnica de PCR quantitativo em tempo rela (real-time)." [s.n.], 2009. http://repositorio.unicamp.br/jspui/handle/REPOSIP/310185.

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Orientadores: Katia Borgia Barbosa Pagnano, Afonso Celso Vigorito<br>Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciencias Medicas<br>Made available in DSpace on 2018-08-14T18:14:56Z (GMT). No. of bitstreams: 1 Machado_MelissaPereira_M.pdf: 1144638 bytes, checksum: c55a80d3cce151782b16b741b0f21149 (MD5) Previous issue date: 2009<br>Resumo: A leucemia mieloide crônica (LMC) e uma desordem mieloproliferativa caracterizada pela presença do cromossomo Philadelphia (Ph), resultado da fusão do gene abl e do gene bcr cujo produto e uma proteína de atividade de tirosina q
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Mégy, Karine. "Analyse in-silico de profils d'expression de gènes humains à partir d'une étude statistique des EST : -Application aux chromosomes 20, 21 et 22 -Application à l'identification de cibles cardio-vasculaires d'intérêt pharmaceutique et à l'étude de leurs promoteurs." Aix-Marseille 2, 2002. http://www.theses.fr/2002AIX22069.

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Sandri, Rosana Maria Candido de Souza. "Investigação de alterações na região 22q11 em indivíduos com fissura de palato." Universidade de São Paulo, 2011. http://www.teses.usp.br/teses/disponiveis/61/61132/tde-14022012-095443/.

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Objetivo: Investigar a presença de alterações (deleção e/ou duplicação) na região 22q11 em indivíduos até 02 anos de idade com fissura de palato, com o intuito de realizar diagnóstico precoce da síndrome da deleção 22q11 (SD22q11). Local: Laboratório de Genética e Citogenética Humana, HRAC/USP, Bauru-SP. Casuística e metodologia: Foram selecionados 55 indivíduos, de ambos os sexos, com idade até 2 anos e com fissura de palato, cadastrados e em tratamento no Hospital de Reabilitação de Anomalias Craniofaciais/USP. Todos os indivíduos foram analisados utilizando citogenética convencional por ban
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Martin, Mallory N. "Microduplication 22q syndrome : investigation of intergenerational change using microarray-based comparative genomic hybridization /." Oklahoma City : [s.n.], 2009.

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Collins, John Edward. "A physical map of human chromosome 22." Thesis, King's College London (University of London), 1996. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.363093.

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Hinkley, Craig S. (Craig Steven). "Gene Dosage Study on Human Chromosome 22." Thesis, North Texas State University, 1986. https://digital.library.unt.edu/ark:/67531/metadc500617/.

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A gene dosage study was conducted on a rare complete trisomy 22 human fibroblast cell line utilizing three lysosomal enzymes, ∝-iduronidase, ∝-galactosidase B, and arylsulfatase A, whose genes are located on chromosome 22 and two control enzymes, ,β-hexosaminidase A and -- fucosidase, with genes not on chromosome 22. A gene dosage effect was clearly demonstrated for an early passage number of the fibroblasts; however, later passage numbers gave inconclusive results. This study suggests that gene dosage studies must be carefully designed to be conducted only on early, matched passage number cel
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Bücher zum Thema "Chromosomes, Human, 21-22 and Y"

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1924-, Smith George F., and National Down Syndrome Society (U.S.). Symposium, eds. Molecular structure of the number 21 chromosome and Down syndrome. New York Academy of Sciences, 1985.

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National Down Syndrome Society (U.S.). Symposium. Molecular genetics of chromosome 21 and Down syndrome: Proceedings of the Sixth Annual National Down Syndrome Society Symposium, held in New York, New York, December 7-8, 1989. Edited by Patterson David 1944- and Epstein Charles J. Wiley-Liss, 1990.

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C, Murphy Kieran, and Scambler Peter J, eds. Velo-cardio-facial syndrome: A model for understanding microdeletion disorders. Cambridge University Press, 2005.

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universitet, Københavns, ed. Characterization of DNA polymorphisms on human chromosome 21 and their use in the study of unbalanced karyotypes, with special reference to nondisjunction in trisomy 21. Alma, 1996.

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Ayyıldız, Yahya. Değerler ve desenler: 21 - 22 Nisan 2018, Van. Tire Basın Yayın, 2018.

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Seška, Stanojlović, and Helsinki Committee for Human Rights in Serbia., eds. Srpsko-albanski dijalog: Beograd, 21-22. novembar 1998. Helsinški odbor za ljudska prava u Srbiji, 1999.

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Assembly, COSPAR Scientific. Life sciences: Complex organics in space : proceedings of the F3.2 symposium of COSPAR Scientific Commission F which was held during the thirty-first COSPAR scientific assembly, Birmingham, U.K., 14-21 July 1996. Published for the Committee on Space Research [by] Pergamon, 1997.

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Assembly, COSPAR Scientific. Life sciences: Exobiology : proceedings of the F3.1, F3.3, F3.4 and F3.5 symposia of COSPAR Scientific Commission F which were held during the thirty-first COSPAR Scientific Assembly, Birmingham, U.K., 14-21 July 1996. Published for the Committee on Space Research [by] Pergamon, 1998.

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Assembly, COSPAR Scientific. Life sciences: Space and Mars recent results : proceedings of the F3.1, F3.4, F2.4 and F3.8 Symposia of COSPAR Scientific Commission F, which were held during the Thirtieth COSPAR Scientific Assembly, Hamburg, Germany, 11-21 July, 1994. Published for the Committee on Space Research [by] Pergamon, 1996.

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Assembly, COSPAR Scientific. Life sciences: Recent dosimetry results, chromosome damage and heritable effects : proceedings of the F2.6 and F2.9 symposia of COSPAR Scientific Commission F which was held during the thirty-first COSPAR Scientific Assembly, Birmingham, U.K., 14-21 July 1996. Published for the Committee on Space Research [by] Pergamon, 1998.

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Buchteile zum Thema "Chromosomes, Human, 21-22 and Y"

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Phelan, Katy. "Ring Chromosome 22." In Human Ring Chromosomes. Springer International Publishing, 2024. http://dx.doi.org/10.1007/978-3-031-47530-6_26.

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Zhang, Hui, and Hongyan Chai. "Ring Chromosome 21." In Human Ring Chromosomes. Springer International Publishing, 2024. http://dx.doi.org/10.1007/978-3-031-47530-6_25.

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de la Vega, Francisco. "Patterns of Linkage Disequilibrium across Human Chromosomes 6, 21, AND 22." In Computational Methods for SNPs and Haplotype Inference. Springer Berlin Heidelberg, 2004. http://dx.doi.org/10.1007/978-3-540-24719-7_30.

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Wyandt, Herman E., and Vijay S. Tonk. "Chromosome 22." In Human Chromosome Variation: Heteromorphism and Polymorphism. Springer Netherlands, 2011. http://dx.doi.org/10.1007/978-94-007-0896-9_27.

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Wyandt, Herman E., and Vijay S. Tonk. "Chromosome 21." In Human Chromosome Variation: Heteromorphism and Polymorphism. Springer Netherlands, 2011. http://dx.doi.org/10.1007/978-94-007-0896-9_26.

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Dunham, I. "Lessons from the Sequence of Human Chromosome 22." In The Human Genome. Springer Berlin Heidelberg, 2002. http://dx.doi.org/10.1007/978-3-662-04667-8_3.

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Patterson, David. "Sequencing of Chromosome 21/The Human Genome Project." In Down Syndrome. John Wiley & Sons, Inc., 2003. http://dx.doi.org/10.1002/0471227579.ch18.

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Nordborg, Magnus. "The Pattern of Polymorphism on Human Chromosome 21." In Computational Methods for SNPs and Haplotype Inference. Springer Berlin Heidelberg, 2004. http://dx.doi.org/10.1007/978-3-540-24719-7_20.

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Gardiner, K., H. Xu, W. Bonds, et al. "Towards a Transcriptional Map of Human Chromosome 21." In Identification of Transcribed Sequences. Springer US, 1994. http://dx.doi.org/10.1007/978-1-4615-2562-2_6.

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Hostler, David, and Gavin Horn. "Chapter 21 Slips, Trips, and Falls in the Firefighting Community." In Human Factors and Ergonomics. CRC Press, 2016. http://dx.doi.org/10.1201/9781315373744-22.

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Konferenzberichte zum Thema "Chromosomes, Human, 21-22 and Y"

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Spontaneo, Leah, and Nick Cercone. "Correlating CpG islands, motifs, and sequence variants in human chromosome 21." In 2010 IEEE International Conference on Bioinformatics and Biomedicine (BIBM). IEEE, 2010. http://dx.doi.org/10.1109/bibm.2010.5706584.

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Alsulami, Haneen Hamed. "INVESTIGATING THE EFFECT OF CIGARETTE SMOKING ON THE NKX3.1 AND TMPRSS2 GENES ASSOCIATED WITH MALE FERTILITY." In Dubai International Conference on Research in Life-Science & Healthcare, 22-23 February 2024. Global Research & Development Services, 2024. http://dx.doi.org/10.20319/icrlsh.2024.3041.

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Cigarette's smoking has a wide negative impact on human health, and it's have been related to many serious issues like cancer, heart disease, respiratory system, and number of health problems. Also, smoking can affect fertility in men by affecting the sperm on several levels. Our research will investigate the genetic risk factors in male by focusing on NKX3.1 and TMPRSS2 genes related to male fertility and investigate the correlation between the gene’s polymorphisms of three groups (smokers, non-smokers, and infertile men). The NKX3.1 or NK3 homeobox 1 located on chromosome 8 is the first know
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Sun, Jian-Hong. "Analysis of a Haplotype Structure in a Non-coding Region of Human Chromosome 22." In 2015 Seventh International Conference on Measuring Technology and Mechatronics Automation (ICMTMA). IEEE, 2015. http://dx.doi.org/10.1109/icmtma.2015.39.

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Guppy, Brent, and Kirk McManus. "Abstract 117: DOT1L is a human chromosome stability gene." In Proceedings: AACR 106th Annual Meeting 2015; April 18-22, 2015; Philadelphia, PA. American Association for Cancer Research, 2015. http://dx.doi.org/10.1158/1538-7445.am2015-117.

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Zimbru, Cristian G., Nicoleta Andreescu, Adela Chirita-Emandi, et al. "Splice site pattern analysis and identification of similar sequences in the deep intron areas of human chromosome 21." In 2017 E-Health and Bioengineering Conference (EHB). IEEE, 2017. http://dx.doi.org/10.1109/ehb.2017.7995382.

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Lauring, Josh. "Abstract 3030: De novo engineering of chromosomal amplifications in human cells." In Proceedings: AACR 106th Annual Meeting 2015; April 18-22, 2015; Philadelphia, PA. American Association for Cancer Research, 2015. http://dx.doi.org/10.1158/1538-7445.am2015-3030.

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"Developing Faculty Retention Framework Through Human Asset Management and Job Conditions." In Sept. 21-22, 2017 Cebu (Philippines). URUAE, 2017. http://dx.doi.org/10.17758/uruae.uh09171003.

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Tseng, Yuen-Yi, Kathryn L. Schwertfeger, and Anindya Bagchi. "Abstract 3272: Chromosome engineered mouse model for human 8q24 amplicon observed in breast cancer patients." In Proceedings: AACR 101st Annual Meeting 2010‐‐ Apr 17‐21, 2010; Washington, DC. American Association for Cancer Research, 2010. http://dx.doi.org/10.1158/1538-7445.am10-3272.

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"Human Parsing Based on Deep Learning for Analyzing the Body Pressure Distribution to Be Used in Pressure Ulcer Risk Management and Prediction." In June 21-22, 2023 Lisbon (Portugal). Excellence in Research & Innovation in Education, 2023. http://dx.doi.org/10.17758/eirai19.f0623113.

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Holmes, Amie L., Sandra S. Wise, Stephen Pelsue, et al. "Abstract 3473: Prolonged exposure to zinc chromate induces numerical chromosome instability via centrosome amplification in human lung cells." In Proceedings: AACR 101st Annual Meeting 2010‐‐ Apr 17‐21, 2010; Washington, DC. American Association for Cancer Research, 2010. http://dx.doi.org/10.1158/1538-7445.am10-3473.

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Berichte der Organisationen zum Thema "Chromosomes, Human, 21-22 and Y"

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Antonarakis, S. E. Human Chromosome 21: Mapping of the chromosomes and cloning of cDNAs. Office of Scientific and Technical Information (OSTI), 1991. http://dx.doi.org/10.2172/6397375.

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Antonarakis, S. E. Human chromosome 21: Linkage mapping and cloning in yeast artificial chromosomes. Office of Scientific and Technical Information (OSTI), 1991. http://dx.doi.org/10.2172/6278130.

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Simon, M. I. (Developing a physical map of human chromosome 22). Office of Scientific and Technical Information (OSTI), 1991. http://dx.doi.org/10.2172/5823029.

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Simon, M. I. [Developing a physical map of human chromosome 22]. Progress report. Office of Scientific and Technical Information (OSTI), 1991. http://dx.doi.org/10.2172/10119098.

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Kim, U. J., Hiroaki Shizuya, and M. I. Simon. Development of BAC libraries and integrated physical mapping of human chromosome 22 using BACs. Annual report, July 1994--June 1995. Office of Scientific and Technical Information (OSTI), 1995. http://dx.doi.org/10.2172/639707.

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Simon, M. I. [Developing a physical map of human chromosome 22 using Pace electrophoresis and large fragment cloning]. Annual report, October 1, 1989--September 30, 1990. Office of Scientific and Technical Information (OSTI), 1990. http://dx.doi.org/10.2172/639704.

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Simon, M. I. [Developing a physical map of human chromosome 22 using Pace electrophoresis and large fragment cloning]. Annual report, October 1, 1990--September 30, 1991. Office of Scientific and Technical Information (OSTI), 1991. http://dx.doi.org/10.2172/639705.

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Simon, M. I. [Developing a physical map of human chromosome 22 using Pace electrophoresis and large fragment cloning]. Annual report, October 1, 1991--July 1, 1994. Office of Scientific and Technical Information (OSTI), 1994. http://dx.doi.org/10.2172/639706.

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Alves, Leandro, Walter Vergara, and Claudio Alatorre. Rethinking Our Energy Future: A White Paper on Renewable Energy for the 3GFLAC Regional Forum. Inter-American Development Bank, 2013. http://dx.doi.org/10.18235/0007903.

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The Global Green Growth Forum (3GF) was initiated in 2011 with the aim of supporting a global transition to inclusive green growth through global alliance making and the promotion of public-private partnerships. This forum is a unique platform to catalyze partnerships that can rapidly bring to scale green growth opportunities bringing together governments from developed, developing and emerging economies along with the private sector. Realizing the potentials of green growth requires the effective mobilization at scale of financial, technological and human capital. This will only be possible i
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Lucas, Brian. Behaviour Change Interventions for Energy Efficiency. Institute of Development Studies, 2022. http://dx.doi.org/10.19088/k4d.2022.138.

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Behavioural interventions are policies and programmes that incorporate insights from scientists who study human behaviour (such as psychology and behavioural economics), with the aim of encouraging socially desirable behaviours by removing barriers and creating incentives or disincentives (Cornago, 2021). Very few behavioural interventions for energy efficiency have been documented in Eastern Europe and the Western Balkans, and none in North Macedonia. The limited experience that has been documented in the region consists of a few small trials which used behavioural principles to inform househ
APA, Harvard, Vancouver, ISO und andere Zitierweisen
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