Статті в журналах з теми "Aspetti monogenici"
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De Rycke, M. "C2 PGD for monogenic diseases: Molecular aspects." Reproductive BioMedicine Online 20 (May 2010): S1. http://dx.doi.org/10.1016/s1472-6483(10)62256-0.
Повний текст джерелаSpits, Claudia, and Karen Sermon. "PGD for monogenic disorders: aspects of molecular biology." Prenatal Diagnosis 29, no. 1 (December 19, 2008): 50–56. http://dx.doi.org/10.1002/pd.2161.
Повний текст джерелаMurphy, Rinki. "Monogenic diabetes and pregnancy." Obstetric Medicine 8, no. 3 (June 29, 2015): 114–20. http://dx.doi.org/10.1177/1753495x15590713.
Повний текст джерелаPeterkova, V. A., T. L. Kuraeva, S. A. Prokof’ev, A. O. Emel'yanov, E. Yu Zakharova, P. G. Tsygankova, and D. P. Grishina. "MOLECULAR GENETICS AND CLINICAL ASPECTS OF MONOGENIC DIABETES MELLITUS." Annals of the Russian academy of medical sciences 67, no. 1 (January 22, 2012): 81–86. http://dx.doi.org/10.15690/vramn.v67i1.115.
Повний текст джерелаLachance, Carl-Hugo. "Practical Aspects of Monogenic Diabetes: A Clinical Point of View." Canadian Journal of Diabetes 40, no. 5 (October 2016): 368–75. http://dx.doi.org/10.1016/j.jcjd.2015.11.004.
Повний текст джерелаMorais, J., H. T. Le та W. Sprößig. "On some constructive aspects of monogenic function theory in ℝ4". Mathematical Methods in the Applied Sciences 34, № 14 (8 серпня 2011): 1694–706. http://dx.doi.org/10.1002/mma.1474.
Повний текст джерелаBallabio, E., A. Bersano, N. Bresolin, and L. Candelise. "Monogenic Vessel Diseases Related to Ischemic Stroke: A Clinical Approach." Journal of Cerebral Blood Flow & Metabolism 27, no. 10 (June 20, 2007): 1649–62. http://dx.doi.org/10.1038/sj.jcbfm.9600520.
Повний текст джерелаKuchinskaya, E. M., E. N. Suspitsyn, and M. M. Kostik. "Genetic aspects of the pathogenesis of systemic lupus erythematosus in children." Modern Rheumatology Journal 14, no. 1 (March 22, 2020): 101–7. http://dx.doi.org/10.14412/1996-7012-2020-1-101-107.
Повний текст джерелаTesser, Alessandra, Alessia Pin, Elisabetta Mencaroni, Virginia Gulino, and Alberto Tommasini. "Vasculitis, Autoimmunity, and Cytokines: How the Immune System Can Harm the Brain." International Journal of Environmental Research and Public Health 18, no. 11 (May 24, 2021): 5585. http://dx.doi.org/10.3390/ijerph18115585.
Повний текст джерелаOrlando, Francesca, Germana Nardini, and Daniele De Brasi. "Le malattie autoinfiammatorie: aspetti patogenetici e clinici (Prima parte)." QUADERNI ACP 29, no. 3 (2022): 128. http://dx.doi.org/10.53141/qacp.2022.128-132.
Повний текст джерелаGolukhova, E. Z., O. I. Gromova, R. A. Shomahov, N. I. Bulaeva, and L. A. Bockeria. "Monogenec Arrhythmic Syndromes: From Molecular and Genetic Aspects to Bedside." Acta Naturae 8, no. 2 (June 15, 2016): 62–74. http://dx.doi.org/10.32607/20758251-2016-8-2-62-74.
Повний текст джерелаMarklová, Eliška. "Genetic Aspects of Diabetes Mellitus." Acta Medica (Hradec Kralove, Czech Republic) 44, no. 1 (2001): 3–6. http://dx.doi.org/10.14712/18059694.2019.79.
Повний текст джерелаTyrtova, Ludmila Viktorovna, Natalja Vladimirovna Parshina, and Kristina Vladimirovna Skobeleva. "Genetic and Epigenetic Aspects of Obessity and Metabolic Syndrom in Child." Pediatrician (St. Petersburg) 4, no. 2 (June 15, 2013): 3–11. http://dx.doi.org/10.17816/ped423-11.
Повний текст джерелаPrityko, A. G., N. V. Chebanenko, P. L. Sokolov, V. P. Zykov, O. V. Klimchuk, and I. V. Kanivets. "Genetic Aspects of Pathogenesis of Congenital Spastic Cerebral Paralysis." Acta Biomedica Scientifica 4, no. 3 (July 17, 2019): 28–39. http://dx.doi.org/10.29413/abs.2019-4.3.4.
Повний текст джерелаArning, Larissa. "The search for modifier genes in Huntington disease – Multifactorial aspects of a monogenic disorder." Molecular and Cellular Probes 30, no. 6 (December 2016): 404–9. http://dx.doi.org/10.1016/j.mcp.2016.06.006.
Повний текст джерелаPetchesi, Codruța Diana, Gabriela Ciavoi, Claudia Jurca, Romana Vulturar, and Marius Bembea. "Bioethical aspects in type I neurofibromatosis." Romanian Journal of Pediatrics 70, no. 3 (September 30, 2021): 169–72. http://dx.doi.org/10.37897/rjp.2021.3.1.
Повний текст джерелаDi Donato, Giulia, Debora Mariarita d’Angelo, Luciana Breda, and Francesco Chiarelli. "Monogenic Autoinflammatory Diseases: State of the Art and Future Perspectives." International Journal of Molecular Sciences 22, no. 12 (June 14, 2021): 6360. http://dx.doi.org/10.3390/ijms22126360.
Повний текст джерелаPiras, Doloretta, Nicola Lepori, Gianfranca Cabiddu, and Antonello Pani. "How Genetics Can Improve Clinical Practice in Chronic Kidney Disease: From Bench to Bedside." Journal of Personalized Medicine 12, no. 2 (January 31, 2022): 193. http://dx.doi.org/10.3390/jpm12020193.
Повний текст джерелаСоловьёва, Е. В., Л. П. Назаренко, Л. И. Минайчева, and А. В. Светлаков. "Preimplantation genetic diagnosis (testing) for monogenic disorders: indications and ethics." Nauchno-prakticheskii zhurnal «Medicinskaia genetika», no. 3() (March 29, 2019): 13–25. http://dx.doi.org/10.25557/2073-7998.2019.03.13-25.
Повний текст джерелаOuafidi, B., O. Wajih, F. Elmiski, H. Kiram, M. Jalal, A. Lamrissi, K. Fichtali, and S. Bouhya. "SYNDROME DE MECKEL GRUBER: A PROPOS DUN CAS RARE." International Journal of Advanced Research 9, no. 06 (June 30, 2021): 365–69. http://dx.doi.org/10.21474/ijar01/13023.
Повний текст джерелаGoryainova, A. V., P. V. Shumilov, N. Yu Kashirskaya, and S. Yu Semykin. "THE ROLE OF CONNECTIVE TISSUE DYSPLASIA IN CHILDREN’S CYSTIC FIBROSIS. CLINICAL AND GENETIC ASPECTS." Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics) 63, no. 5 (November 20, 2018): 20–28. http://dx.doi.org/10.21508/1027-4065-2018-63-5-20-28.
Повний текст джерелаDeteșan, Oana, Lucia Mihaela Custură, Brigitta Irén Kovács, Reka Annamaria Schmiedt, and Mariana Cornelia Tilinca. "Current Perspectives in MODY Management—A Narrative Review." Timisoara Medical Journal 2021, no. 2 (December 24, 2021): 1. http://dx.doi.org/10.35995/tmj20210204.
Повний текст джерелаCaso, Francesco, Donato Rigante, Antonio Vitale, Orso Maria Lucherini, Luisa Costa, Mariangela Atteno, Adele Compagnone, et al. "Monogenic Autoinflammatory Syndromes: State of the Art on Genetic, Clinical, and Therapeutic Issues." International Journal of Rheumatology 2013 (2013): 1–15. http://dx.doi.org/10.1155/2013/513782.
Повний текст джерелаWhitfield, Amanda J., P. Hugh R. Barrett, Frank M. van Bockxmeer, and John R. Burnett. "Lipid Disorders and Mutations in the APOB Gene." Clinical Chemistry 50, no. 10 (October 1, 2004): 1725–32. http://dx.doi.org/10.1373/clinchem.2004.038026.
Повний текст джерелаKireeva, Victoria Vladimirovna, Svetlana Aleksandrovna Lepekhova, Lyubov Nazirovna Mansurova, and Saryuna Chingisovna Dugarova. "EPIGENETIC AND MOLECULAR AND GENETIC ASPECTS OF OBESITY AS A RISK FACTOR OF CARDIOVASCULAR CATASTROPHES." EurasianUnionScientists 5, no. 7(76) (August 20, 2020): 39–44. http://dx.doi.org/10.31618/esu.2413-9335.2020.5.76.926.
Повний текст джерелаMartins Junior, Carlos Roberto, Fabrício Castro de Borba, Alberto Rolim Muro Martinez, Thiago Junqueira Ribeiro de Rezende, Iscia Lopes Cendes, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, and Marcondes Cavalcante França Júnior. "Twenty-five years since the identification of the first SCA gene: history, clinical features and perspectives for SCA1." Arquivos de Neuro-Psiquiatria 76, no. 8 (August 2018): 555–62. http://dx.doi.org/10.1590/0004-282x20180080.
Повний текст джерелаZhogova, O. V., N. V. Lagunova, S. V. Ivanovsky, S. O. Salugina, and M. M. Kostik. "Familial Mediterranean fever in the Republic of Crimea: a description of a series of cases with an analysis of historical and ethnographic aspects of the disease." Rheumatology Science and Practice 57, no. 3 (July 11, 2019): 339–44. http://dx.doi.org/10.14412/1995-4484-2019-339-344.
Повний текст джерелаPenyaeva, Elena V. "Genetic aspects of Ebstein anomaly and related heart diseases." Annals of the Russian academy of medical sciences 76, no. 1 (April 12, 2021): 67–74. http://dx.doi.org/10.15690/vramn1228.
Повний текст джерелаMüllenbach, Roman, Susanne N. Weber, and Frank Lammert. "Nuclear Receptor Variants in Liver Disease." Journal of Lipids 2012 (2012): 1–12. http://dx.doi.org/10.1155/2012/934707.
Повний текст джерелаBaz, Baz, Jean-Pierre Riveline, and Jean-François Gautier. "ENDOCRINOLOGY OF PREGNANCY: Gestational diabetes mellitus: definition, aetiological and clinical aspects." European Journal of Endocrinology 174, no. 2 (February 2016): R43—R51. http://dx.doi.org/10.1530/eje-15-0378.
Повний текст джерелаBerta, Eszter, Noémi Zsíros, Miklós Bodor, István Balogh, Hajnalka Lőrincz, György Paragh, and Mariann Harangi. "Clinical Aspects of Genetic and Non-Genetic Cardiovascular Risk Factors in Familial Hypercholesterolemia." Genes 13, no. 7 (June 27, 2022): 1158. http://dx.doi.org/10.3390/genes13071158.
Повний текст джерелаZhuravlev, N. M., N. A. Shnayder, and R. F. Nasyrova. "The role of DNA-profiling in predicting anticonvulsant-induced QT prolongation diseases based on pharmacogenetic aspects." Pharmacogenetics and Pharmacogenomics, no. 1 (February 27, 2023): 37–52. http://dx.doi.org/10.37489/2588-0527-2022-1-37-52.
Повний текст джерелаSchmitt, Lauren, Rebecca Shaffer, David Hessl, and Craig Erickson. "Executive Function in Fragile X Syndrome: A Systematic Review." Brain Sciences 9, no. 1 (January 16, 2019): 15. http://dx.doi.org/10.3390/brainsci9010015.
Повний текст джерелаTimasheva, Ya R., Zh R. Balkhiyarova, and O. V. Kochetova. "Current state of the obesity research: genetic aspects, the role of microbiome, and susceptibility to COVID-19." Problems of Endocrinology 67, no. 4 (September 16, 2021): 20–35. http://dx.doi.org/10.14341/probl12775.
Повний текст джерелаRevazyan, K. Z., A. N. Meshkov, A. I. Ershova, O. V. Sivakova, and O. M. Drapkina. "Psychosocial, ethical, legal and economic aspects of genetic screening for the carriage of variants that cause the development of monogenic recessive diseases." Profilakticheskaya meditsina 24, no. 2 (2021): 102. http://dx.doi.org/10.17116/profmed202124021102.
Повний текст джерелаChaturvedi, Purnima, Rohit Kumar, and Sapna Ratan Shah. "Bio-Mechanical and Bio-Rheological Aspects of Sickle Red Cells in Microcirculation: A Mathematical Modelling Approach." Fluids 6, no. 9 (September 8, 2021): 322. http://dx.doi.org/10.3390/fluids6090322.
Повний текст джерелаGuja, Cristian, Loreta Guja, and Constantin Ionescu-Tîrgovişte. "Neonatal Diabetes – From Gene Discovery yo Clinical Practice Changes." Romanian Journal of Diabetes Nutrition and Metabolic Diseases 20, no. 3 (September 1, 2013): 343–52. http://dx.doi.org/10.2478/rjdnmd-2013-0034.
Повний текст джерелаPedro-Botet, Juan, Elisenda Climent, and David Benaiges. "Familial Hypercholesterolemia: Do HDL Play a Role?" Biomedicines 9, no. 7 (July 13, 2021): 810. http://dx.doi.org/10.3390/biomedicines9070810.
Повний текст джерелаGrumett, David. "Cult books revisited: Pierre Teilhard de Chardin’s The Phenomenon of Man." Theology 122, no. 6 (November 2019): 404–11. http://dx.doi.org/10.1177/0040571x19872102.
Повний текст джерелаSgobbi de Souza, Paulo Victor, Bruno de Mattos Lombardi Badia, Eduardo Augusto Gonçalves, Igor Braga Farias, Wladimir Bocca Vieira de Rezende Pinto, and Acary Souza Bulle Oliveira. "Hereditary inclusion body myopathy: a clinical and genetic review." Revista Neurociências 28 (July 24, 2020): 1–23. http://dx.doi.org/10.34024/rnc.2020.v28.10569.
Повний текст джерелаMabillard, Holly, and John A. Sayer. "The Molecular Genetics of Gordon Syndrome." Genes 10, no. 12 (November 29, 2019): 986. http://dx.doi.org/10.3390/genes10120986.
Повний текст джерелаNasimuzzaman, Md, and Punam Malik. "Role of the coagulation system in the pathogenesis of sickle cell disease." Blood Advances 3, no. 20 (October 22, 2019): 3170–80. http://dx.doi.org/10.1182/bloodadvances.2019000193.
Повний текст джерелаDehghani, Anisa, and Hulya Karatas. "Mouse Models of Familial Hemiplegic Migraine for Studying Migraine Pathophysiology." Current Neuropharmacology 17, no. 10 (September 13, 2019): 961–73. http://dx.doi.org/10.2174/1570159x17666190513085013.
Повний текст джерелаFedorov, E. S., and S. O. Salugina. "Familial Mediterranean fever (periodic disease): history or a real problem." Modern Rheumatology Journal 12, no. 3 (September 16, 2018): 61–69. http://dx.doi.org/10.14412/1996-7012-2018-3-61-69.
Повний текст джерелаCavallieri, Francesco, Rubens G. Cury, Thiago Guimarães, Valentina Fioravanti, Sara Grisanti, Jessica Rossi, Edoardo Monfrini, et al. "Recent Advances in the Treatment of Genetic Forms of Parkinson’s Disease: Hype or Hope?" Cells 12, no. 5 (February 27, 2023): 764. http://dx.doi.org/10.3390/cells12050764.
Повний текст джерелаHorton, Rachel, and Anneke M. Lucassen. "The moral argument for heritable genome editing requires an inappropriately deterministic view of genetics." Journal of Medical Ethics 45, no. 8 (March 12, 2019): 526–27. http://dx.doi.org/10.1136/medethics-2019-105390.
Повний текст джерелаCordone, Valeria, Alessandra Pecorelli, and Giuseppe Valacchi. "Sirtuins as potential therapeutic targets for mitigating OxInflammation in typical Rett syndrome: plausible mechanisms and evidence." Redox Experimental Medicine 2022, no. 1 (July 1, 2022): R26—R39. http://dx.doi.org/10.1530/rem-22-0004.
Повний текст джерелаZimmer, Vincent, Roman Liebe, and Frank Lammert. "Nuclear Receptor Variants in Liver Disease." Digestive Diseases 33, no. 3 (2015): 415–19. http://dx.doi.org/10.1159/000371695.
Повний текст джерелаGriessenauer, Christoph J., Sean Farrell, Atom Sarkar, Ramin Zand, Vida Abedi, Neil Holland, Andrew Michael, et al. "Genetic susceptibility to cerebrovascular disease: A systematic review." Journal of Cerebral Blood Flow & Metabolism 38, no. 11 (September 5, 2018): 1853–71. http://dx.doi.org/10.1177/0271678x18797958.
Повний текст джерелаБаранова, Е. Е., Г. Ю. Зобкова, and В. Л. Ижевская. "The assessment of ethical aspects of the genetic counseling efficacy in Russian Federation." Nauchno-prakticheskii zhurnal «Medicinskaia genetika», no. 11(220) (November 30, 2020): 39–46. http://dx.doi.org/10.25557/2073-7998.2020.11.39-46.
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