Bibliografie tematiche / Medical genetics

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Letteratura scientifica selezionata sul tema "Medical genetics"

Autore: Grafiati
Pubblicato: 4 giugno 2021
Ultima modifica: 25 luglio 2025

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Articoli di riviste sul tema "Medical genetics"

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Stoll, Claude. "Clinical genetics: Medical genetics." European Journal of Human Genetics 14, no. 5 (2006): 587. http://dx.doi.org/10.1038/sj.ejhg.5201601.

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Babovic-Vuksanovic, Dusica. "Medical Genetics." Mayo Clinic Proceedings 74, no. 10 (1999): 1055–56. http://dx.doi.org/10.4065/74.10.1055-b.

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Fletcher, John C., and Dorothy C. Wertz. "Medical Genetics." Hastings Center Report 18, no. 6 (1988): 48. http://dx.doi.org/10.2307/3563051.

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Pinel, T. "Medical Genetics." British Journal of Biomedical Science 68, no. 1 (2011): 51. http://dx.doi.org/10.1080/09674845.2011.11978204.

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Blackburn, Susan. "Medical Genetics." Journal of Perinatal & Neonatal Nursing 18, no. 1 (2004): 74–75. http://dx.doi.org/10.1097/00005237-200401000-00012.

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Reardon, W. "Medical genetics." Journal of Medical Genetics 42, no. 11 (2005): 880. http://dx.doi.org/10.1136/jmg.2005.034645.

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Babovic-Vuksanovic, Dusica. "Medical Genetics." Mayo Clinic Proceedings 74, no. 10 (1999): 1055–56. http://dx.doi.org/10.1016/s0025-6196(11)64018-4.

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Super, M. "Medical genetics." Postgraduate Medical Journal 67, no. 789 (1991): 613–31. http://dx.doi.org/10.1136/pgmj.67.789.613.

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Harris, R. "Medical genetics." BMJ 303, no. 6808 (1991): 977–79. http://dx.doi.org/10.1136/bmj.303.6808.977.

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McKusick, Victor A. "Medical Genetics." JAMA 270, no. 19 (1993): 2351. http://dx.doi.org/10.1001/jama.1993.03510190107035.

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Tesi sul tema "Medical genetics"

1

Rodas, Perez M. C. "Medical genetics in Colombia : genetic consultation and counselling in five genetic clinics." Thesis, University of Warwick, 2012. http://wrap.warwick.ac.uk/46980/.

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Today genetic services including genetic counselling are widespread across the world. Although developing countries, like Colombia, have started to apply genetic knowledge to the health area, genetic counselling is usually integrated in the routine clinical genetic consultation, however, before this study the process of communication involved in it had not been explored. In collaboration with the Colombian Association of Medical Genetics, the Bogotá Health Service, and the University of Warwick (UK), I observed 25 genetic consultations in five Colombian genetic clinics. I undertook semi-struc
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Leeming, William J. "Medical specialization and medical genetics in Canada (1947 and after)." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1999. http://www.collectionscanada.ca/obj/s4/f2/dsk1/tape10/PQDD_0001/NQ43440.pdf.

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Martin, Hilary Chenevix. "Genomic approaches to medical and population genetics." Thesis, University of Oxford, 2015. https://ora.ox.ac.uk/objects/uuid:44fc9605-a2a8-4b91-9ea9-989fb8203d27.

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Over the last fifteen years, rapid advances in genotyping and DNA sequencing technologies have revolutionised genetic and biomedical research. In this thesis, we present some applications of these technologies in studying rare disease, population genetics and meiotic recombination. We begin by reviewing previous research in these areas in Chapter 1. Then in Chapter 2, we present some case studies of Mendelian neurological disorders that were carried out as part of a large clinical whole-genome sequencing project, WGS500. These led to the discovery of several new genes for a type of severe earl
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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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Freeze, Samantha. "Genetic Testing and Counseling Practices for Patients with Retinoblastoma at Cincinnati Children’s Hospital Medical Center." University of Cincinnati / OhioLINK, 2015. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1427813631.

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Ivansson, Emma. "Contribution of Immunogenetic Factors in Susceptibility to Cervical Cancer." Doctoral thesis, Uppsala universitet, Institutionen för genetik och patologi, 2009. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-9552.

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Cervical cancer is the second most common cancer in women worldwide. Persistent infection by an oncogenic type of human papillomavirus (HPV) is a necessary but not sufficient cause and there is also a genetic component. This thesis aims to identify host genetic risk factors for cervical cancer based on the hypothesis that susceptibility is affected by genetic variation in the immune response towards HPV infection. Paper I analyzed allergy in sons and cervical cancer in their mothers, and revealed an inverse association between cervical cancer and allergy across generations. Mothers of allergic
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Chuang, William 1970. "Design of a genetics database for medical research." Thesis, Massachusetts Institute of Technology, 2000. http://hdl.handle.net/1721.1/86291.

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Thesis (S.B. and M.Eng.)--Massachusetts Institute of Technology, Dept. of Electrical Engineering and Computer Science, 2000.<br>Includes bibliographical references (leaves 54-57, first group).<br>by William Chuang.<br>S.B.and M.Eng.
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Miller, Fiona Alice. "A blueprint for defining health, making medical genetics in Canada, c. 1935-1975." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 2000. http://www.collectionscanada.ca/obj/s4/f2/dsk2/ftp02/NQ56247.pdf.

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Andrews, Verity A. "Genetics and genomics in nursing : what are the characteristics of genetic nurse adopters and nurse opinion leaders in genetics and genomics?" Thesis, University of South Wales, 2012. https://pure.southwales.ac.uk/en/studentthesis/genetics-and-genomics-in-nursing(237c7d78-1001-4039-9c54-e694eae69dc9).html.

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Background. Aspects of genetics/genomics are increasingly being incorporated into medicine. Nurses are crucial in helping transform healthcare through genomic nursing (Loud, 2010). However the integration of genetics/genomics into nursing education has been sporadic (Dodson and Lewallen, 2011). Influencing its uptake into practice may be via nurses who are already utilising genetics/genomics in their practice (adopters) and nurses who may lead the way and encourage others (opinion leaders) to do likewise. Identifying the characteristics of such adopters and opinion leaders within nursing may p
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Nudel, Ron. "Molecular genetics of language impairment." Thesis, University of Oxford, 2015. http://ora.ox.ac.uk/objects/uuid:70249129-ef2e-4508-b8f6-50d6eae8e78b.

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Developmental language impairments are neurodevelopmental disorders in which the acquisition of language, a task which children typically perform with ease, is hindered or fraught with difficulty. This work focuses on specific language impairment (SLI), a common and highly heritable language impairment in which language development is abnormal while other developmental domains are normal. Additionally, a case-study of a child with a broader linguistic and behavioural phenotype is also presented. The work described in this thesis includes both genetic and functional investigations which were ai
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Libri sul tema "Medical genetics"

1

Jorde, Lynn B. Medical genetics. 4th ed. Mosby/Elsevier, 2010.

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1946-, Carey John C., and White Raymond L. 1943-, eds. Medical genetics. Mosby, 1995.

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1946-, Carey John C., and White Raymond L. 1943-, eds. Medical genetics. Mosby, 1996.

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B, Jorde Lynn, ed. Medical genetics. 3rd ed. Mosby, 2006.

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B, Jorde Lynn, ed. Medical genetics. 2nd ed. Mosby, 1999.

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D, Young Ian, and Emery Alan E. H, eds. Emery's elements of medical genetics. Churchill Livingstone, 1998.

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D, Young Ian, and Emery Alan E. H, eds. Emery's elements of medical genetics. Churchill Livingstone, 2000.

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Chen, Harold. Medical genetics handbook. W.H. Green, 1988.

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1946-, Carey John C., and Bamshad Michael J, eds. Medical genetics. 4th ed. Mosby/Elsevier, 2010.

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B, Jorde Lynn, ed. Medical genetics. 3rd ed. Mosby, 2003.

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Capitoli di libri sul tema "Medical genetics"

1

Tobin, Sara L. "Medical Genetics." In Oklahoma Notes. Springer New York, 1995. http://dx.doi.org/10.1007/978-1-4612-4200-0_14.

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Hogan, Andrew J. "Medical Genetics." In A Companion to the History of American Science. John Wiley & Sons, Ltd, 2015. http://dx.doi.org/10.1002/9781119072218.ch12.

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Hall, Nancy K., and Daniel L. Feeback. "Medical Genetics." In Oklahoma Notes. Springer US, 1987. http://dx.doi.org/10.1007/978-1-4684-0502-6_4.

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Bailey, Ernest, and Samantha A. Brooks. "Medical genetics." In Horse genetics. CABI, 2020. http://dx.doi.org/10.1079/9781786392589.0153.

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Rieder, Harald. "Medical Genetics." In Encyclopedia of Sciences and Religions. Springer Netherlands, 2013. http://dx.doi.org/10.1007/978-1-4020-8265-8_669.

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Gardner, Aaron, Sarah Stauffer, Lindsay Petley-Ragan, Philip Wismer, and Dewi Ayu Kencana Ungu. "Medical Genetics." In Labster Virtual Lab Experiments: Genetics of Human Diseases. Springer Berlin Heidelberg, 2019. http://dx.doi.org/10.1007/978-3-662-58744-7_3.

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Scarpa, Aldo, Paola Capelli, and Ivana Cataldo. "Pathology and Genetics." In Medical Radiology. Springer Berlin Heidelberg, 2010. http://dx.doi.org/10.1007/174_2010_4.

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Edelmann, Lisa, Stuart Scott, and Ruth Kornreich. "Molecular Medical Genetics." In Molecular Genetic Pathology. Humana Press, 2008. http://dx.doi.org/10.1007/978-1-59745-405-6_16.

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Edelmann, Lisa, Stuart Scott, Liu Liu, and Ruth Kornreich. "Molecular Medical Genetics." In Molecular Genetic Pathology. Springer New York, 2012. http://dx.doi.org/10.1007/978-1-4614-4800-6_20.

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Zwitter, Matjaž. "Genetics." In Medical Ethics in Clinical Practice. Springer International Publishing, 2019. http://dx.doi.org/10.1007/978-3-030-00719-5_15.

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Atti di convegni sul tema "Medical genetics"

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CZEIZEL, ANDREW E. "QUO VADIS MEDICAL GENETICS?" In Proceedings of the Conference on Future of the Universe and the Future of Our Civilization. WORLD SCIENTIFIC, 2000. http://dx.doi.org/10.1142/9789812793324_0024.

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"Pre-testing of Genetic Literacy Questionnaire Reveals Genetics Misconceptions Among Medical Students of Universitas Riau." In 4th Riau Medical Scientific and Expo 2022. Galaxy Science, 2022. http://dx.doi.org/10.11594/nstp.2022.2810.

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Gomes, Victor Hugo de Souza Silva, Klesia Adaynny Rodrigues, Isadora Soares Constantini de Andrade, et al. "Use of free genetic screening methods in neurology outpatients in cuiaba: advantages and interpretation difficulties." In XIV Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2023. http://dx.doi.org/10.5327/1516-3180.141s1.368.

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Introduction: Medical genetics is increasingly gaining in modern medicine, through panels that enable the screening and diagnosis of rare diseases, becoming an effective ally in determination of some pathologies. In 2021, Invitae provided of medical outpatient clinics with kits for collecting genetic material in order to assist the specialist in diagnosing unusual and difficult-to-recognize conditions. In Cuiabá, the residency in Neurology was chosen to host the use of these methods. Objectives and methods: List the genetic tests collected through oral swabs and quantify the diagnoses made, in
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"Seeking an optimal approach to variant calling in medical genetics." In Bioinformatics of Genome Regulation and Structure/Systems Biology (BGRS/SB-2022) :. Institute of Cytology and Genetics, the Siberian Branch of the Russian Academy of Sciences, 2022. http://dx.doi.org/10.18699/sbb-2022-215.

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Arutyunov, Armenak Valerievich, Vladimir Viktorovich Volobuev, Elena Alexandrovna Badeeva, Tatyana Ivanovna Murashkina, and Yury Anatolyevich Vasilyev. "CONGENITAL MALFORMATIONS OF THE FACE IN CHILDREN OF A LARGE REGION OF RUSSIA: CURRENT STATE OF THE PROBLEM AND PROSPECTIVE DIAGNOSTIC SOLUTIONS." In International conference New technologies in medicine, biology, pharmacology and ecology (NT +M&Ec ' 2020). Institute of information technology, 2020. http://dx.doi.org/10.47501/978-5-6044060-0-7.16.

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Cleft lip and/or palate occupy a leading position among facial malformations. On the territory of the Krasnodar&#x0D; region, this pathology occurs in 1.01-1.15 cases per 1000 children. Therefore, it is important to improve&#x0D; the diagnostic base. The joint work of the Kuban state medical University staff with Institute of General genetics and Penza state University allowed to develop diagnostic methods based on molecular genetic analysis and using fiber-optic technologies.
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Robson, J. F., S. J. Denholm, and M. Coffey. "123. Automated processing and phenotype extraction of ovine medical images using deep learning and computer vision." In World Congress on Genetics Applied to Livestock Production. Wageningen Academic Publishers, 2022. http://dx.doi.org/10.3920/978-90-8686-940-4_123.

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"Adventures with large biomedical datasets: Diseases, medical records, environment and genetics." In 2017 IEEE International Conference on Bioinformatics and Biomedicine (BIBM). IEEE, 2017. http://dx.doi.org/10.1109/bibm.2017.8217610.

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Taleb, Aiham, Matthias Kirchler, Remo Monti, and Christoph Lippert. "ContIG: Self-supervised Multimodal Contrastive Learning for Medical Imaging with Genetics." In 2022 IEEE/CVF Conference on Computer Vision and Pattern Recognition (CVPR). IEEE, 2022. http://dx.doi.org/10.1109/cvpr52688.2022.02024.

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Yang, Qiushi, Wuyang Li, Baopu Li, and Yixuan Yuan. "MRM: Masked Relation Modeling for Medical Image Pre-Training with Genetics." In 2023 IEEE/CVF International Conference on Computer Vision (ICCV). IEEE, 2023. http://dx.doi.org/10.1109/iccv51070.2023.01961.

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Calderon Torres, Claudia Marissa. "WEBSITE FOR ONLINE OR BLENDED TEACHING OF GENETICS FOR THE DEVELOPMENT OF KNOWLEDGE AND SKILLS IN BIOLOGY STUDENTS." In EduCon Tokyo –International Conference on Education, 17-18 January 2024. Global Research & Development Services, 2024. http://dx.doi.org/10.20319/ictel.2024.3537.

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Abstract (sommario):
Genetics is the science that studies the transmission and variation of the hereditary information of organisms stored in DNA. Currently, Genetics encompasses a strategic set of knowledge and skills that biology professionals must have, in such a way that those who do not have this knowledge, techniques and even theories, run the risk of not entering a job position. Objective. This work presents a web page developed to facilitate the learning of Genetics knowledge. This project brings together participants who have carried out scientific and professional work, have taught genetics courses and k
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Rapporti di organizzazioni sul tema "Medical genetics"

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Clemens, Jeffrey, and Stan Veuger. Risks to the Returns to Medical Innovation: The Case of Myriad Genetics. National Bureau of Economic Research, 2015. http://dx.doi.org/10.3386/w21469.

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Muyle, Aline. Analysis of DNA Methylation. Instats Inc., 2024. http://dx.doi.org/10.61700/6ayq8hff26qxn1470.

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This three-day workshop provides comprehensive training in the analysis of DNA methylation, a key epigenetic modification influencing gene expression and controlling the spread of transposable elements in genomes. Led by Dr Aline Muyle, participants will gain theoretical knowledge and practical skills in data preprocessing, statistical analysis, and visualization using RStudio and various bioinformatic software using Bash scripts. The workshop is suited for researchers in Biostatistics, Biology, Genetics, Ecology, Evolution, Bioinformatics, Molecular Biology, and Medical Research.
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Ghosh, Payel. Medical Image Segmentation Using a Genetic Algorithm. Portland State University Library, 2000. http://dx.doi.org/10.15760/etd.25.

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Rajarajan, Kunasekaran, Alka Bharati, Hirdayesh Anuragi, et al. Status of perennial tree germplasm resources in India and their utilization in the context of global genome sequencing efforts. World Agroforestry, 2020. http://dx.doi.org/10.5716/wp20050.pdf.

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Tree species are characterized by their perennial growth habit, woody morphology, long juvenile period phase, mostly outcrossing behaviour, highly heterozygosity genetic makeup, and relatively high genetic diversity. The economically important trees have been an integral part of the human life system due to their provision of timber, fruit, fodder, and medicinal and/or health benefits. Despite its widespread application in agriculture, industrial and medicinal values, the molecular aspects of key economic traits of many tree species remain largely unexplored. Over the past two decades, researc
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de Miguel Beriain, Iñigo, Aliuska Duardo Sánchez, and José Antonio Castillo Parrilla. What Can We Do with the Data of Deceased People? A Normative Proposal. Universitätsbibliothek J. C. Senckenberg, Frankfurt am Main, 2021. http://dx.doi.org/10.21248/gups.64580.

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The health and genetic data of deceased people are a particularly important asset in the field of biomedical research. However, in practice, using them is compli- cated, as the legal framework that should regulate their use has not been fully developed yet. The General Data Protection Regulation (GDPR) is not applicable to such data and the Member States have not been able to agree on an alternative regulation. Recently, normative models have been proposed in an attempt to face this issue. The most well- known of these is posthumous medical data donation (PMDD). This proposal supports an opt-i
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Best, Stephanie, Clara Gaff, Natalie Taylor, and Helen Brown. Frameworks to support the implementation of genomics into clinical care. The Sax Institute, 2019. http://dx.doi.org/10.57022/daqw3432.

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Abstract (sommario):
Establishing genomics within clinical practice poses many challenges. NSW Ministry of Health commissioned this review to identify frameworks that have been used to support the translation of genomic research into clinical practice. Although the literature on the use and evaluation of frameworks that have actively translated genomics from laboratory to clinical settings is limited the authors were able to draw out key themes and recommendations for NSW and possible future directions, including: a crucial need for formal evaluation of the implementation of genomic medicine in real-world settings
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Sooksai, Sarintip, and Kobkul Laoteng. Genetic study of fatty acid and lipid biosynthesis in Hansenula polymorpha. Chulalongkorn University, 2011. https://doi.org/10.58837/chula.res.2011.121.

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Abstract (sommario):
Two groups of Hansenula polymorpha mutants were screened by their fatty acid requirement, one requires saturated fatty acids for growth (sfa- mutamts) and the other requires unsaturated fatty acids (mfa- and pfa- mutants). Two of the sfa- mutants, S7 and S16, showed significantly difference in the fatty acid composition. S7 clearly defected in the production of C18:2∆9,12 and C18:3∆9,12,15, while S16 significantly accumulated medium-chain saturated fatty acids, C12:0 and C14:0. By tetrad analysis, the results showed that S7 had double mutation which composed of fatty acid synthesis mutation (H
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Fridman, Eyal, and Eran Pichersky. Tomato Natural Insecticides: Elucidation of the Complex Pathway of Methylketone Biosynthesis. United States Department of Agriculture, 2009. http://dx.doi.org/10.32747/2009.7696543.bard.

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Plant species synthesize a multitude of specialized compounds 10 help ward off pests. and these in turn may well serve as an alternative to synthetic pesticides to reduce environmental damage and health risks to humans. The general goal of this research was to perform a genetic and biochemical dissection of the natural-insecticides methylketone pathway that is specific to the glandular trichomes of the wild species of tomato, Solanumhabrochaites f. glabratum (accession PI126449). Previous study conducted by us have demonstrated that these compounds are synthesized de novo as a derivate pathway
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Tzfira, Tzvi, Michael Elbaum, and Sharon Wolf. DNA transfer by Agrobacterium: a cooperative interaction of ssDNA, virulence proteins, and plant host factors. United States Department of Agriculture, 2005. http://dx.doi.org/10.32747/2005.7695881.bard.

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Abstract (sommario):
Agrobacteriumtumefaciensmediates genetic transformation of plants. The possibility of exchanging the natural genes for other DNA has led to Agrobacterium’s emergence as the primary vector for genetic modification of plants. The similarity among eukaryotic mechanisms of nuclear import also suggests use of its active elements as media for non-viral genetic therapy in animals. These considerations motivate the present study of the process that carries DNA of bacterial origin into the host nucleus. The infective pathway of Agrobacterium involves excision of a single-stranded DNA molecule (T-strand
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Lichter, Amnon, Gopi K. Podila, and Maria R. Davis. Identification of Genetic Determinants that Facilitate Development of B. cinerea at Low Temperature and its Postharvest Pathogenicity. United States Department of Agriculture, 2011. http://dx.doi.org/10.32747/2011.7592641.bard.

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Abstract (sommario):
Botrytis cinerea is the postharvest pathogen of many agricultural produce with table grapes, strawberries and tomatoes as major targets. The high efficiency with which B. cinerea causes disease on these produce during storage is attributed in part due to its exceptional ability to develop at very low temperature. Our major goal was to understand the genetic determinants which enable it to develop at low temperature. The specific research objectives were: 1. Identify expression pattern of genes in a coldenriched cDNA library. 2. Identify B. cinerea orthologs of cold-induced genes 3. Profile pro
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