المؤلفون: Yaneva N, Baycheva M, Kostova P, Papochieva V, Mileva S, Miteva D, Savov A, Petrova G

المصدر: Balkan Journal of Medical Genetics, Vol 26, Iss 1, Pp 83-88 (2023)

مصطلحات موضوعية: donor oocytes, preimplantation diagnosis, cystic fibrosis, carrier screening, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2199-5761Test

الوصول الحر: https://doaj.org/article/d22339c58abb452db289b8ac4bc55f7aTest

المؤلفون: Kiseleva A, Klimushina M, Sotnikova E, Skirko O, Divashuk M, Kurilova O, Ershova A, Khlebus E, Zharikova A, Efimova I, Pokrovskaya M, Slominsky PA, Shalnova S, Meshkov A, Drapkina O

المصدر: Pharmacogenomics and Personalized Medicine, Vol Volume 13, Pp 679-686 (2020)

مصطلحات موضوعية: cystic fibrosis, cftr, genetic analysis, carrier screening, carrier testing, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

العلاقة: https://www.dovepress.com/cystic-fibrosis-polymorphic-variants-in-a-russian-population-peer-reviewed-article-PGPMTest; https://doaj.org/toc/1178-7066Test

الوصول الحر: https://doaj.org/article/9b87154d215c45c68669dc8c2eb78133Test

المؤلفون: Kanika Singh, Sunita Bijarnia-Mahay, V. L. Ramprasad, Ratna Dua Puri, Sandhya Nair, Sheetal Sharda, Renu Saxena, Sudha Kohli, Samarth Kulshreshtha, Indrani Ganguli, Kanwal Gujral, Ishwar C. Verma

المصدر: BMC Medical Genetics, Vol 21, Iss 1, Pp 1-15 (2020)

مصطلحات موضوعية: Carrier screening, Cystic fibrosis, Hearing loss, Pompe disease, Asian Indians, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s12881-020-01153-4Test; https://doaj.org/toc/1471-2350Test

الوصول الحر: https://doaj.org/article/ac50b3dccb2a4559ad84dd3f3290e3d5Test

المؤلفون: Ruth Leibowitz, Sharon Lewis, Jon Emery, John Massie, Melanie Smith, Martin Delatycki, Alison Archibald

المصدر: Australian Journal of Primary Health. 28:580-587

مصطلحات موضوعية: Muscular Atrophy, Spinal, Cystic Fibrosis, Pregnancy, Genetic Carrier Screening, Fragile X Syndrome, Health Personnel, Health Policy, Australia, Public Health, Environmental and Occupational Health, Humans, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4bf7062d028d62628b799d0b5873c754Test
https://doi.org/10.1071/py21247Test

المؤلفون: Pujol, P., Fodil-Chérif, S., Mandel, J.L., Baertschi, Bernard, Sanlaville, D., Zarca, D., Toledano, A., Bloch, P., Geneviève, D.

المساهمون: Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Comité d'éthique de l'Inserm = The Inserm Ethics Committee (CEI - IEC), Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Genève = University of Geneva (UNIGE), Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Hôpital Femme Mère Enfant CHU - HCL (HFME), Hospices Civils de Lyon (HCL), Institut français du sein Paris, Institut de radiothérapie et de radiochirurgie Hartmann Levallois-Perret

المصدر: ISSN: 2352-5525 ; Ethics, Medicine and Public Health ; https://hal.science/hal-03490091Test ; Ethics, Medicine and Public Health, 2020, 12, pp.100439. ⟨10.1016/j.jemep.2019.100439⟩.

مصطلحات موضوعية: Carrier screening, Ethics, Genetics, Heterozygous, Cystic fibrosis, Dépistage préconceptionnel, Éthique, Génétique, Hétérozygote, Mucoviscidose, [SHS]Humanities and Social Sciences

العلاقة: hal-03490091; https://hal.science/hal-03490091Test; https://hal.science/hal-03490091/documentTest; https://hal.science/hal-03490091/file/S2352552519301057.pdfTest; PII: S2352-5525(19)30105-7

الإتاحة: https://doi.org/10.1016/j.jemep.2019.100439Test
https://hal.science/hal-03490091Test
https://hal.science/hal-03490091/documentTest
https://hal.science/hal-03490091/file/S2352552519301057.pdfTest

المؤلفون: Anna V. Kiseleva, Marina V. Klimushina, Evgeniia A. Sotnikova, Mikhail G. Divashuk, Alexandra I. Ershova, Olga P. Skirko, Olga V. Kurilova, Anastasia A. Zharikova, Eleonora Yu. Khlebus, Irina A. Efimova, Maria S. Pokrovskaya, Petr A. Slominsky, Svetlana A. Shalnova, Alexey N. Meshkov, Oxana M. Drapkina

المصدر: Journal of Personalized Medicine; Volume 10; Issue 3; Pages: 140

مصطلحات موضوعية: cystic fibrosis, CFTR, phenylketonuria, PAH, alpha-1 antitrypsin deficiency, SERPINA1, sensorineural hearing loss, GJB2, carrier screening

وصف الملف: application/pdf

العلاقة: https://dx.doi.org/10.3390/jpm10030140Test

الإتاحة: https://doi.org/10.3390/jpm10030140Test

المؤلفون: E. Sotnikova A., M. Klimushina V., A. Kiseleva V., O. Skirko P., O. Kurilova V., M. Divashuk G., E. Khlebus Yu., V. Kozlova A., M. Pokrovskaya S., P. Slominsky A., A. Meshkov N., O. Drapkina M., Е. Сотникова А., М. Климушина В., А. Киселева В., О. Скирко П., О. Курилова В., М. Дивашук Г., Э. Хлебус Ю., В. Козлова А., М. Покровская С., П. Сломинский А., А. Мешков Н., О. Драпкина М.

المصدر: Medical Genetics; Том 19, № 7 (2020); 64-65 ; Медицинская генетика; Том 19, № 7 (2020); 64-65 ; 2073-7998

مصطلحات موضوعية: cystic fibrosis, CFTR, carrier screening, allele frequency, муковисцидоз, выявление носителей, частоты аллелей

وصف الملف: application/pdf

العلاقة: https://www.medgen-journal.ru/jour/article/view/1448/1090Test; https://www.medgen-journal.ru/jour/article/view/1448Test

الإتاحة: https://doi.org/10.25557/2073-7998.2020.07.64-65Test
https://www.medgen-journal.ru/jour/article/view/1448Test

المؤلفون: Wen-Bin He, Yue-Qiu Tan, Xiao Hu, Wen Li, Bo Xiong, Ke-Li Luo, Fei Gong, Guang-Xiu Lu, Ge Lin, Juan Du

المصدر: BMC Medical Genetics, Vol 19, Iss 1, Pp 1-7 (2018)

مصطلحات موضوعية: Expanded carrier screening, Preimplantation genetic diagnosis, Preimplantational genetic screening, Congenital FVII deficiency, Cystic fibrosis, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s12881-018-0525-9Test; https://doaj.org/toc/1471-2350Test

الوصول الحر: https://doaj.org/article/e923750449e744ce873480cca488cca5Test

المؤلفون: Zoran Laurentiu Popa, Madalin-Marius Margan, Izabella Petre, Elena Bernad, Lavinia Stelea, Veronica Daniela Chiriac, Marius Craina, Ioana Mihaela Ciuca, Anca Mihaela Bina

المصدر: International Journal of Environmental Research and Public Health; Volume 19; Issue 14; Pages: 8698

مصطلحات موضوعية: Cystic Fibrosis, Genetic Carrier Screening, Health, Toxicology and Mutagenesis, Infant, Newborn, Public Health, Environmental and Occupational Health, Cystic Fibrosis Transmembrane Conductance Regulator, cystic fibrosis, mucoviscidosis, prenatal screening, mental health, marital attitudes, Cross-Sectional Studies, Pregnancy, Prenatal Diagnosis, Humans, Female, Genetic Testing, Pregnant Women, Marriage, Child

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22e6d693f0755ac7f3d474482d110c94Test

المؤلفون: Ernesto Andrade, Jorge Alberto Galindo Díaz

المصدر: Biomédica: revista del Instituto Nacional de Salud, Vol 40, Iss 2, Pp 283-295 (2020)
Biomédica, Volume: 40, Issue: 2, Pages: 283-295, Published: 30 JUN 2020
Biomédica

مصطلحات موضوعية: 0301 basic medicine, asesoramiento genético, lcsh:Arctic medicine. Tropical medicine, Cystic Fibrosis, lcsh:RC955-962, Cost-Benefit Analysis, Cystic fibrosis/genetics, Artículo Original, DNA Mutational Analysis, Cystic Fibrosis Transmembrane Conductance Regulator, lcsh:Medicine, Genetic Counseling, Consanguinity, 030105 genetics & heredity, Colombia, Cystic fibrosis, Sensitivity and Specificity, General Biochemistry, Genetics and Molecular Biology, cost-effectiveness evaluation, Cftr gene, genetic testing, 03 medical and health sciences, 0302 clinical medicine, tamización de portadores genéticos, Bias, Per capita, medicine, Humans, pruebas genéticas, Probability, genetic counseling, business.industry, Genetic Carrier Screening, Decision Trees, lcsh:R, Diagnostic test, evaluación de costo-efectividad, Sequence Analysis, DNA, Patient Acceptance of Health Care, medicine.disease, genetic carrier screening, fibrosis quística/genética, 030220 oncology & carcinogenesis, Asymptomatic Diseases, Insurance, Health, Reimbursement, business, Demography, Systematic search

وصف الملف: text/html

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6489b5c5f1730bb5c50f1ff282cd0ddeTest
https://revistabiomedica.org/index.php/biomedica/article/view/4816Test