Academic literature on the topic 'Human genetics'

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Journal articles on the topic "Human genetics"

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Comai, L. "Human genetics: Human genetics discovering ourselves." Heredity 99, no. 5 (2007): 481–82. http://dx.doi.org/10.1038/sj.hdy.6801060.

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Bakhshilloyevna, Sultonova Dildor. "Biochemistry and molecular genetics of human glycogenoses." American Journal of Applied Sciences 7, no. 7 (2025): 78–82. https://doi.org/10.37547/tajas/volume07issue07-08.

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Most of the glycogen metabolism disorders that affect skeletal muscle involve enzymes of glycogenolysis (myophosphorylase ( PYGM ), glycogen debranching enzyme ( AGL ), phosphorylase b -kinase ( PHKB )) and glycolysis (phosphofructokinase ( PFK ), phosphoglyceromutase ( PGAM 2), aldolase A ( ALDOA ), β -enolase ( ENO 3)); however, 3 of them involve glycogen synthesis (glycogenin-1 ( GYG 1), glycogen synthase ( GSE ), and debranching enzyme ( GBE 1)). Many present with exercise-induced cramps and rhabdomyolysis with more intense exercise (ie, PYGM , PFK , PGAM 2), while others present with musc
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Vázquez, José. "Human Genetics." American Biology Teacher 68, no. 2 (2006): 118–19. http://dx.doi.org/10.2307/4451943.

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Haas, John M. "Human Genetics." Ethics & Medics 21, no. 2 (1996): 1–3. http://dx.doi.org/10.5840/em19962123.

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Connors, Bernadette J. "Human Genetics." American Biology Teacher 77, no. 5 (2015): 393–94. http://dx.doi.org/10.1525/abt.2015.77.5.12c.

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Atramentova, L. A. "Bayesian statistics in human genetics." Faktori eksperimental'noi evolucii organizmiv 26 (September 1, 2020): 316–19. http://dx.doi.org/10.7124/feeo.v26.1286.

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Using of the Bayes’ method in genetic counseling allows clarifying of the probability of a disease in the offspring, which in some cases can save probands from additional laboratory diagnostic tests due to the extremely low risk which can be calculated. The article is devoted to the usage of the Bayes’ method in human genetics. The concepts of a priori, conditional, total and posterior probabilities are introduced. As an example, a pedigree with a monogenic recessive X-linked trait is considered. An algorithm for calculating of the probability that a patient is a carrier of a pathological gene
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Motulsky, Arno G. "Societal problems in human and medical genetics." Genome 31, no. 2 (1989): 870–75. http://dx.doi.org/10.1139/g89-153.

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The applications of human and medical genetics raise many societal and ethical problems. This paper deals with a variety of such issues posed by current and future developments in genetic counseling, genetic screening, prenatal and predictive diagnosis, and gene therapy. The promise and problems of behavioral genetics are discussed. Problems of privacy, decision making, societal pressures, stigmatization, and informed consent to genetic study are raised. Use of genetic data by insurance companies or other public groups is discussed. The rapid unfolding of genetic information affecting human he
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Passarge, Eberhard. "Origins of human genetics. A personal perspective." European Journal of Human Genetics 29, no. 7 (2021): 1038–44. http://dx.doi.org/10.1038/s41431-020-00785-7.

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AbstractGenetics evolved as a field of science after 1900 with new theories being derived from experiments obtained in fruit flies, bacteria, and viruses. This personal account suggests that the origins of human genetics can best be traced to the years 1949 to 1959. Several genetic scientific advances in genetics in 1949 yielded results directly relating to humans for the first time, except for a few earlier observations. In 1949 the first textbook of human genetics was published, the American Journal of Human Genetics was founded, and in the previous year the American Society of Human Genetic
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Kilinc, Mustafa, and Zeynel Abidin Kilinc. "Human genetic diversity and income inequality." Economics and Business Letters 13, no. 4 (2024): 183–93. http://dx.doi.org/10.17811/ebl.13.4.2024.183-193.

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This paper examines whether human genetic diversity is relevant to understand income inequality differences across countries. It extends the existing genetics-development studies in the literature to the relationship between genetics and inequality. The results obtained from 147 countries indicate that there is a statistically significant U-shaped relationship between genetic diversity and inequality. An important mediating factor in this relationship can be the level of trust in society. Genetic homogeneity can increase mutual support, aid, and cooperation in society. Hence, higher levels of
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King, M. C. "HUMAN GENETICS: Mapping Human History." Science 298, no. 5602 (2002): 2342–43. http://dx.doi.org/10.1126/science.1080373.

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Dissertations / Theses on the topic "Human genetics"

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Ingman, Max. "Mitochondria and Human Evolution." Doctoral thesis, Uppsala University, Department of Genetics and Pathology, 2003. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-3580.

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<p>Mitochondrial DNA (mtDNA) has been a potent tool in studies of the evolution of modern humans, human migrations and the dynamics of human populations over time. The popularity of this cytoplasmic genome has largely been due to its clonal inheritance (in Man) allowing the tracing of a direct genetic line. In addition, a comparatively high rate of nucleotide substitution facilitates phylogenetic resolution among relatively closely related individuals of the same species.</p><p>In this thesis, a statistically supported phylogeny based on complete mitochondrial genome sequences is presented whi
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Whitmore, Scott Anthony. "Positional cloning of genes associated with human disease /." Title page, contents and summary only, 1999. http://web4.library.adelaide.edu.au/theses/09PH/09phw616.pdf.

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Thesis (Ph.D.) -- University of Adelaide, Dept. of Cytogenetics and Molecular Genetics, 1999.<br>Copies of author's previously published articles inserted. Amendments pasted onto back-end paper. Bibliography: leaves 255-286.
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Dubé, Marie-Pierre. "New approaches in human genetic analysis." Thesis, McGill University, 1999. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=36581.

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The present thesis covers two aspects of statistical analysis applied to the genetics of human diseases. First, the significance of LOD-score results for the confirmation of linkage is addressed, with special emphasis on small pedigrees. A new analytical approach is presented for the linkage analysis of heterogenetic traits, using hereditary spastic paraplegia as a model, a disease well suited for the analyses. The critical significance values for confirmation of linkage are evaluated using Bayesian statistics, and empirical P-values for LOD score results are calculated using computer simulati
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De, Bustos Cecilia. "Genetic and Epigenetic Variation in the Human Genome : Analysis of Phenotypically Normal Individuals and Patients Affected with Brain Tumors." Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis : Univ.-bibl. [distributör], 2006. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-6629.

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Heilbronn, Leonie Kaye. "Gene/environment interactions in human obesity." Title page, table of contents and summary only, 2001. http://web4.library.adelaide.edu.au/theses/09PH/09phh466.pdf.

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Bell, Christopher Graeme. "The genetics of human obesity." Thesis, Imperial College London, 2006. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.433662.

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Jennings, Michael William. "Developmental genetics of human haemoglobin." Thesis, University of Oxford, 1988. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.236131.

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Bell, Jordana Tzenova. "Epistasis in complex human traits." Thesis, University of Oxford, 2006. http://ora.ox.ac.uk/objects/uuid:547db446-c84c-4a6c-8b5c-ce960f7765c5.

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Melin, Malin. "Identification of Candidate Genes in Four Human Disorders." Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis, 2006. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-7344.

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Nelki, Daniel S. "The ownership of human genes and human tissue." Thesis, City University London, 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.301178.

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Books on the topic "Human genetics"

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Lewis, Ricki. Human genetics: Concepts and applications. 7th ed. McGraw-Hill, 2007.

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Noël, Merino, ed. Human genetics. Greenhaven Press, 2010.

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Jenkins, John B. Human genetics. 2nd ed. Harper & Row, 1990.

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Vogel, Friedrich, and Arno G. Motulsky. Human Genetics. Springer Berlin Heidelberg, 1986. http://dx.doi.org/10.1007/978-3-662-02489-8.

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Vogel, Friedrich, and Karl Sperling, eds. Human Genetics. Springer Berlin Heidelberg, 1987. http://dx.doi.org/10.1007/978-3-642-71635-5.

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Vogel, Friedrich, and Arno G. Motulsky. Human Genetics. Springer Berlin Heidelberg, 1997. http://dx.doi.org/10.1007/978-3-662-03356-2.

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Jenkins, John B. Human genetics. 2nd ed. Harper & Row, 1990.

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Merino, Noël. Human genetics. Greenhaven Press, 2010.

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Merino, Noël. Human genetics. Greenhaven Press, 2010.

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Honig, George R. Human hemoglobin genetics. Springer-Verlag, 1985.

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Book chapters on the topic "Human genetics"

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Vogel, Friedrich, and Arno G. Motulsky. "Population Genetics: Consanguinity, Genetic Drift." In Human Genetics. Springer Berlin Heidelberg, 1997. http://dx.doi.org/10.1007/978-3-662-03356-2_14.

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Kowles, Richard. "Human Genetics." In Solving Problems in Genetics. Springer New York, 2001. http://dx.doi.org/10.1007/978-1-4613-0205-6_11.

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Lancaster, H. O. "Human Genetics." In Quantitative Methods in Biological and Medical Sciences. Springer New York, 1994. http://dx.doi.org/10.1007/978-1-4612-2658-1_5.

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Vogel, Friedrich, and Arno G. Motulsky. "Human Chromosomes." In Human Genetics. Springer Berlin Heidelberg, 1986. http://dx.doi.org/10.1007/978-3-662-02489-8_3.

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Vogel, Friedrich, and Arno G. Motulsky. "Human Evolution." In Human Genetics. Springer Berlin Heidelberg, 1986. http://dx.doi.org/10.1007/978-3-662-02489-8_8.

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Vogel, Friedrich, and Arno G. Motulsky. "Human Evolution." In Human Genetics. Springer Berlin Heidelberg, 1997. http://dx.doi.org/10.1007/978-3-662-03356-2_15.

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Vogel, Friedrich, and Arno G. Motulsky. "Population Genetics." In Human Genetics. Springer Berlin Heidelberg, 1986. http://dx.doi.org/10.1007/978-3-662-02489-8_7.

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Craig, A., F. Michiels, G. Zehetner, et al. "Molecular Techniques in Mammalian Genetics: A New Era in Genetic Analysis." In Human Genetics. Springer Berlin Heidelberg, 1987. http://dx.doi.org/10.1007/978-3-642-71635-5_11.

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Eastwood, Martin. "Genetics." In Principles of Human Nutrition. Springer US, 1997. http://dx.doi.org/10.1007/978-1-4899-3025-5_2.

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Dye, Frank J. "Genetics." In Human Life Before Birth. CRC Press, 2019. http://dx.doi.org/10.1201/9781351130288-5.

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Conference papers on the topic "Human genetics"

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Dufournet, Antoine, Joël Chavas, Julien Laval, Denis Rivière, Vincent Frouin, and Jean-François Mangin. "Towards a Better Understanding of the Genetics of the Human Cortical Folding." In 2025 IEEE 22nd International Symposium on Biomedical Imaging (ISBI). IEEE, 2025. https://doi.org/10.1109/isbi60581.2025.10980983.

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Borakhade, Hemant, Deepali Onkar, and Deepali Borakhade. "Comparing Neural Networks In Human Brains And AI Systems With Focus On Genetics And Experiential Differences." In 2024 2nd DMIHER International Conference on Artificial Intelligence in Healthcare, Education and Industry (IDICAIEI). IEEE, 2024. https://doi.org/10.1109/idicaiei61867.2024.10842761.

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YAMAGUCHI, TETSUTARO, RYOSUKE KIMURA, AKIRA KAWAGUCHI, YOKO TOMOYASU, and KOUTARO MAKI. "Craniofacial Morphology in Human Genetics." In Proceedings of the 2nd International Symposium. WORLD SCIENTIFIC, 2013. http://dx.doi.org/10.1142/9789814518413_0005.

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Guan, Hannah. "The genetics of human aging." In BCB '21: 12th ACM International Conference on Bioinformatics, Computational Biology and Health Informatics. ACM, 2021. http://dx.doi.org/10.1145/3459930.3469508.

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Dronamraju, Krishna R. "The History & Development of Human Genetics." In Progress in Different Countries. WORLD SCIENTIFIC, 1992. http://dx.doi.org/10.1142/9789814537919.

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Cleaver, James E. "Genetics of human sensitivity to ultraviolet radiation." In Ultraviolet Radiation Hazards. SPIE, 1994. http://dx.doi.org/10.1117/12.180813.

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Mitrofanova, Antonina, and Bud Mishra. "Population genetics of human copy number variations." In the 2008 ACM symposium. ACM Press, 2008. http://dx.doi.org/10.1145/1363686.1363990.

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Moore, Jason H., Nate Barney, and Bill C. White. "Towards human-human-computer interaction for biologically-inspired problem-solving in human genetics." In the 9th annual conference. ACM Press, 2007. http://dx.doi.org/10.1145/1276958.1277052.

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Gillespie, Marc. "Capturing, Curating, and Sharing Viral Disease in Reactome." In Genomics and Human Genetics: The New York Symposium. Reactome, 2024. http://dx.doi.org/10.3180/poster/20240126gillespie.

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"Redesign of starch biosynthetic pathway in rice by CRISPR/Cas9-mediated genome editing toward human diets." In Plant Genetics, Genomics, Bioinformatics, and Biotechnology. Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 2019. http://dx.doi.org/10.18699/plantgen2019-074.

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Reports on the topic "Human genetics"

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Bohorquez, Clara, Tamar Cooper, and Ian Tattersall. Human Evolution and Biodiversity. American Museum of Natural History, 2010. http://dx.doi.org/10.5531/cbc.ncep.0095.

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Homo sapiens, modern humans, are part of the order of Primates, which includes the diverse lemurs, lorises, monkeys and apes. Our family of primates, Hominidae, originated between 8 and 6 MYA in Africa. The evolution to modern Homo sapiens comprised both significant changes in physique/genetics (bipedalism, modern body form, increases in cognitive function) and lifestyle/culture (tool-use, symbolism, agriculture). Throughout our history, Homo sapiens has and continues to shape global biodiversity through the spread of disease and non-native species, overhunting and fire-use. In the accompanyin
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Loyd, Peter. An Evaluation of Genetics 308X/508X Biotechnology in Agriculture, Food, and Human Health. Iowa State University, 1997. http://dx.doi.org/10.31274/cc-20240624-170.

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Collins, D. L., L. Segebrecht, and R. N. Schimke. Human genetics education for middle and secondary science teachers. Third annual report, April 1, 1994--March 30, 1995. Office of Scientific and Technical Information (OSTI), 1994. http://dx.doi.org/10.2172/34255.

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Cahaner, Avigdor, Susan J. Lamont, E. Dan Heller, and Jossi Hillel. Molecular Genetic Dissection of Complex Immunocompetence Traits in Broilers. United States Department of Agriculture, 2003. http://dx.doi.org/10.32747/2003.7586461.bard.

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Objectives: (1) Evaluate Immunocompetence-OTL-containing Chromosomal Regions (ICRs), marked by microsatellites or candidate genes, for magnitude of direct effect and for contribution to relationships among multiple immunocompetence, disease-resistance, and growth traits, in order to estimate epistatic and pleiotropic effects and to predict the potential breeding applications of such markers. (2) Evaluate the interaction of the ICRs with genetic backgrounds from multiple sources and of multiple levels of genetic variation, in order to predict the general applicability of molecular genetic marke
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Seger, Yvette R. Genetic Requirements for the Transformation of Human Cells. Defense Technical Information Center, 2002. http://dx.doi.org/10.21236/ada410207.

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Seger, Yvette. Genetic Requirements for the Transformation of Human Cells. Defense Technical Information Center, 2004. http://dx.doi.org/10.21236/ada429117.

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Seger, Yvette M. Genetic Requirements for the Transformation of Human Cells. Defense Technical Information Center, 2003. http://dx.doi.org/10.21236/ada418793.

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Karlan, Beth Y. Genetic Definition and Phenotypic Determinants of Human Ovarian Carcinomas. Defense Technical Information Center, 2000. http://dx.doi.org/10.21236/ada394004.

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Hait, William. Genetic Susceptibility to Cancer Chemotherapy in Human Breast Cancer. Defense Technical Information Center, 2000. http://dx.doi.org/10.21236/ada396563.

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Hait, William N. Genetic Susceptibility to Cancer Chemotherapy in Human Breast Cancer. Defense Technical Information Center, 2001. http://dx.doi.org/10.21236/ada398401.

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