المؤلفون: Vicente, Rodrigo, Alpuim Costa, Diogo, Vitorino, Marina, Mendes, Ana Duarte, Santos, Catarina, Fontes-Sousa, Mário

المساهمون: NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM), RUN

مصطلحات موضوعية: breast cancer, founder mutations, genetic testing, hereditary breast and ovarian cancer syndrome, ovarian cancer, Portuguese families, Oncology, Cancer Research, SDG 3 - Good Health and Well-being

وصف الملف: application/pdf

العلاقة: 2072-6694; PURE: 47284784

الإتاحة: http://hdl.handle.net/10362/144961Test

المؤلفون: Attri Shivangi, Sharma Vikas, Kumar Amit, Verma Chaitenya, Gahlawat Suresh Kumar

المصدر: Open Medicine, Vol 16, Iss 1, Pp 1733-1744 (2021)

مصطلحات موضوعية: hibm, gne, myopathy, simulation, founder mutations, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2391-5463Test

الوصول الحر: https://doaj.org/article/3551ad28983a4a1ab38e7f374d695949Test

المؤلفون: Wei Li, Xiao-Sen Jiang, Dong-Ming Han, Jia-Yu Gao, Zheng-Tao Yang, Li Jiang, Qian Zhang, Sheng-Hai Zhang, Ya Gao, Ji-Hong Wu, Jian-Kang Li

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: USH2A gene, rp, USH, founder mutations, genetic profile, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2022.900548/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/46e9588553ea46c58d0e25819407f491Test

المؤلفون: Rodrigo Vicente, Diogo Alpuim Costa, Marina Vitorino, Ana Duarte Mendes, Catarina Santos, Mário Fontes-Sousa

المصدر: Cancers; Volume 14; Issue 19; Pages: 4717

مصطلحات موضوعية: hereditary breast and ovarian cancer syndrome, breast cancer, ovarian cancer, founder mutations, Portuguese families, genetic testing

وصف الملف: application/pdf

العلاقة: Cancer Epidemiology and Prevention; https://dx.doi.org/10.3390/cancers14194717Test

الإتاحة: https://doi.org/10.3390/cancers14194717Test

المؤلفون: Abir Ben Haj Ali, Olfa Messaoud, Sahar Elouej, Faten Talmoudi, Wiem Ayed, Fethi Mellouli, Monia Ouederni, Sondes Hadiji, Annachiara De Sandre-Giovannoli, Valérie Delague, Nicolas Lévy, Massimo Bogliolo, Jordi Surrallés, Sonia Abdelhak, Ahlem Amouri

المصدر: Frontiers in Genetics, Vol 12 (2021)

مصطلحات موضوعية: consanguinity, founder mutations, North Africa, molecular diagnosis, Fanconi anemia, FANCA, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2021.610050/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/bb022a4210ca418a9084d7233c286fe8Test

المؤلفون: Alimohamed, Mohamed Z, Johansson, LennartF, Posafalvi, Anna, Boven, Ludolf G, van Dijk, Krista K, Walters, Lisa, Vos, Yvonne J, Westers, Helga, Hoedemaekers, Yvonne M, Sinke, Richard J, Sijmons, Rolf H, Sikkema-Raddatz, Birgit, Jongbloed, Jan D H, van der Zwaag, Paul A

المصدر: Alimohamed , M Z , Johansson , L , Posafalvi , A , Boven , L G , van Dijk , K K , Walters , L , Vos , Y J , Westers , H , Hoedemaekers , Y M , Sinke , R J , Sijmons , R H , Sikkema-Raddatz , B , Jongbloed , J D H & van der Zwaag , P A 2021 , ' Diagnostic yield of targeted next generation sequencing in 2002 Dutch cardiomyopathy patients ' , International Journal of Cardiology , vol. 332 , pp. 99-104 . https://doi.org/10.1016/j.ijcard.2021.02.069Test

مصطلحات موضوعية: Cardiomyopathy, NGS gene panel, Diagnostic yield, CNV, DILATED CARDIOMYOPATHY, MOLECULAR-GENETICS, FOUNDER MUTATIONS, PHENOTYPE, CLASSIFICATION, LANDSCAPE, VARIANTS, GENOTYPE

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/9e13f76f-c397-4e6f-ba0a-078ae9fa0d23Test

الإتاحة: https://doi.org/10.1016/j.ijcard.2021.02.069Test
https://hdl.handle.net/11370/9e13f76f-c397-4e6f-ba0a-078ae9fa0d23Test
https://research.rug.nl/en/publications/9e13f76f-c397-4e6f-ba0a-078ae9fa0d23Test
https://pure.rug.nl/ws/files/169880124/Diagnostic_yield_of_targeted_next_generation_sequencing_in_2002_Dutch_cardiomyopathy_patients.pdfTest

المؤلفون: Ben Haj Ali, Abir, Messaoud, Olfa, Elouej, Sahar, Talmoudi, Faten, Ayed, Wiem, Mellouli, Fethi, Ouederni, Monia, Hadiji, Sondes, de Sandre-Giovannoli, Annachiara, Delague, Valérie, Lévy, Nicolas, Bogliolo, Massimo, Surrallés, Jordi, Abdelhak, Sonia, Amouri, Ahlem

المساهمون: Département d'Histologie et de Cytogénétique - Institut Pasteur de Tunis, Institut Pasteur de Tunis, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP), Université de Tunis El Manar (UTM), Laboratoire de Génomique Biomédicale et Oncogénétique - Biomedical Genomics and Oncogenetics Laboratory (LR11IPT05), Université de Tunis El Manar (UTM)-Institut Pasteur de Tunis, Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), National Bone Marrow Transplantation Centre, Université de Sfax - University of Sfax, Département de génétique médicale Hôpital de la Timone - APHM, Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Hôpital de la Timone CHU - APHM (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de ressources biologiques Tissus ADN Cellules Hôpital de la Timone - APHM (CRB TAC), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Hôpital de la Timone CHU - APHM (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Hôpital de la Timone CHU - APHM (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Universitat Autònoma de Barcelona = Autonomous University of Barcelona = Universidad Autónoma de Barcelona (UAB), Instituto de Salud Carlos III Madrid (ISC), This work was supported by the Tunisian Ministry of Public Health, the Tunisian Ministry of Higher Education and Scientific Research (LR16IPT05).

المصدر: ISSN: 1664-8021 ; Frontiers in Genetics ; https://riip.hal.science/pasteur-03546883Test ; Frontiers in Genetics, 2021, 12, pp.610050. ⟨10.3389/fgene.2021.610050⟩.

مصطلحات موضوعية: consanguinity, founder mutations, North Africa, molecular diagnosis, Fanconi anemia, FANCA, [SDV]Life Sciences [q-bio]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33679882; pasteur-03546883; https://riip.hal.science/pasteur-03546883Test; https://riip.hal.science/pasteur-03546883/documentTest; https://riip.hal.science/pasteur-03546883/file/had1.pdfTest; PUBMED: 33679882; PUBMEDCENTRAL: PMC7933650

الإتاحة: https://doi.org/10.3389/fgene.2021.610050Test
https://riip.hal.science/pasteur-03546883Test
https://riip.hal.science/pasteur-03546883/documentTest
https://riip.hal.science/pasteur-03546883/file/had1.pdfTest

المؤلفون: Koivuluoma, S. (Susanna)

المساهمون: Pylkäs, K. (Katri), Winqvist, R. (Robert)

مصطلحات موضوعية: perinnöllinen rintasyöpäalttius, founder mutations, harvinaiset mutaatiot, perustajamutaatiot, hereditary breast cancer predisposition, whole-exome sequencing, koko eksomin sekvensointi, rare mutations, variant of unknown significance, merkitykseltään epävarma variantti

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od______2423::13a1042d479660500f3e7e27fcb1a3a2Test
http://urn.fi/urn:isbn:9789526236773Test

المؤلفون: Vargas Castellanos, Elizabeth

المساهمون: Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana, Pontificia Universidad Javeriana. Facultad de Medicina. Departamento de Epidemiología Clínica y Bioestadística

المصدر: Oncologist; Vol. 24 Núm. 7 (2018)

مصطلحات موضوعية: BRCA1/2, Founder mutations, Hereditary breast cancer, Afro-Colombians

جغرافية الموضوع: Colombia, Chocó (Colombia), Manizales (Colombia)

وصف الملف: PDF; application/pdf; Papel / Electrónico

العلاقة: https://eds-a-ebscohost-com.ezproxy.javeriana.edu.co/eds/detail/detail?vid=1&sid=d85a2ab3-2323-4a45-878e-eda74c620b04%40sdc-v-sessmgr02&bdata=Jmxhbmc9ZXMmc2l0ZT1lZHMtbGl2ZQ%3d%3d#AN=30541753&db=mnhTest; 1083-7159 / 1549-490X (Electrónico); http://hdl.handle.net/10554/47949Test; https://doi.org/10.1634/theoncologist.2018-0346Test.

الإتاحة: https://doi.org/10.1634/theoncologist.2018-0346Test
http://hdl.handle.net/10554/47949Test
https://eds-a-ebscohost-com.ezproxy.javeriana.edu.co/eds/detail/detail?vid=1&sid=d85a2ab3-2323-4a45-878e-eda74c620b04%40sdc-v-sessmgr02&bdata=Jmxhbmc9ZXMmc2l0ZT1lZHMtbGl2ZQ%3d%3d#AN=30541753&db=mnhTest

المؤلفون: Nagy, Melinda

المصدر: Economica; Vol. 5 No. Különszám (2012); 14-23 ; Economica; Évf. 5 szám Különszám (2012); 14-23 ; 2560-2322 ; 1585-6216

مصطلحات موضوعية: Romani population, health status, societal crisis, hereditary diseases, founder mutations, roma populáció, egészségügyi állapot, társadalmi válságjelenségek, örökletes betegségek, alapító mutációk

وصف الملف: application/pdf

العلاقة: https://ojs.lib.unideb.hu/economica/article/view/4472/4285Test; https://ojs.lib.unideb.hu/economica/article/view/4472Test; http://hdl.handle.net/2437/294704Test

الإتاحة: https://doi.org/10.47282/ECONOMICA/2012/5/KTestülönszám/4472
http://hdl.handle.net/2437/294704Test
https://ojs.lib.unideb.hu/economica/article/view/4472Test