المؤلفون: Avram, Elena, Ding, Can, Cerqueira, Juliana Xavier de Miranda, Johari, Mridul, da Silva, Ana Raquel Gouveia Freitas, Sabau, Ileana-Delia, Noor, Nuru, Kalantari, Silvia, Dore, Rhys, Barbosa-Matos, Rita, Mroczek, Magdalena, Tonini, Francesca, Committee, European Society of Human Genetics-Young

المساهمون: Medicum, Department of Medical and Clinical Genetics

مصطلحات موضوعية: Biochemistry, cell and molecular biology, Genetics, developmental biology, physiology

وصف الملف: application/pdf

العلاقة: Avram , E , Ding , C , Cerqueira , J X D M , Johari , M , da Silva , A R G F , Sabau , I-D , Noor , N , Kalantari , S , Dore , R , Barbosa-Matos , R , Mroczek , M , Tonini , F & Committee , E S O H G-Y 2023 , ' The European Society of Human Genetics-Young committee- activities and achievements between 2019-2022 ' , European Journal of Human Genetics , vol. 31 , no. 4 , pp. 383-386 . https://doi.org/10.1038/s41431-023-01300-4Test; ORCID: /0000-0002-3549-558X/work/139919536; http://hdl.handle.net/10138/563696Test; b1226c94-07e4-4f4f-9eca-509cbc7c2880; 000934930800001

الإتاحة: http://hdl.handle.net/10138/563696Test

المؤلفون: European Society of Human Genetics - Young Committee, Avram, Elena, Ding, Can, de Miranda Cerqueira, Juliana Xavier, Johari, Mridul, da Silva, Ana Raquel Gouveia Freitas, Săbău, Ileana Delia, Noor, Nuru, Kalantari, Silvia, Dore, Rhys, Barbosa-Matos, Rita, Mroczek, Magdalena, Tonini, Francesca

المساهمون: Tampere University, BioMediTech

مصطلحات موضوعية: 3111 Biomedicine

وصف الملف: fulltext

العلاقة: 31; ORCID: /0000-0001-8220-3503/work/133134604; https://trepo.tuni.fi/handle/10024/147209Test; URN:NBN:fi:tuni-202304143726

الإتاحة: https://doi.org/10.1038/s41431-023-01300-4Test
https://trepo.tuni.fi/handle/10024/147209Test

المؤلفون: Forzano, F, Antonova, O, Clarke, A, de Wert, G, Hentze, S, Jamshidi, Y, Moreau, Y, Perola, M, Prokopenko, I, Read, A, Reymond, A, Stefansdottir, V, van El, C, Genuardi, M, Executive Committee of the European Society of Human Genetics, Public and Professional Policy Committee of the European Society

وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/113991/3/s41431-021-01000-x.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/113991/1/PRS_Statement_2021_EJHG_submitted%20edited2_30112021.docxTest; Forzano, F; Antonova, O; Clarke, A; de Wert, G; Hentze, S; Jamshidi, Y; Moreau, Y; Perola, M; Prokopenko, I; Read, A; et al. Forzano, F; Antonova, O; Clarke, A; de Wert, G; Hentze, S; Jamshidi, Y; Moreau, Y; Perola, M; Prokopenko, I; Read, A; Reymond, A; Stefansdottir, V; van El, C; Genuardi, M; Executive Committee of the European Society of Human Genetics; Public and Professional Policy Committee of the European Society (2022) The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice. Eur J Hum Genet, 30 (5). pp. 493-495. ISSN 1476-5438 https://doi.org/10.1038/s41431-021-01000-xTest SGUL Authors: Jamshidi, Yalda

الإتاحة: https://doi.org/10.1038/s41431-021-01000-xTest
https://openaccess.sgul.ac.uk/id/eprint/113991Test/
https://openaccess.sgul.ac.uk/id/eprint/113991/3/s41431-021-01000-x.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/113991/1/PRS_Statement_2021_EJHG_submitted%20edited2_30112021.docxTest

المؤلفون: Executive Committee of the European Society of Human Genetics

المساهمون: Other departments

مصطلحات موضوعية: Náttúrufræðingar

العلاقة: European Journal of Human Genetics; 30(5); Executive Committee of the European Society of Human Genetics 2022 , ' Correction : The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice ' , European Journal of Human Genetics , vol. 30 , no. 5 , pp. 1306 . https://doi.org/10.1038/s41431-022-01155-1Test , https://doi.org/10.1038/s41431-022-01067-0Test; 105206841; 6bc55e18-8764-46d7-bb2c-926fd40a7ee2; PubMedCentral: PMC9626551; 85136309381; PubMedCentral: PMC9090735; 85126218043; https://hdl.handle.net/20.500.11815/4080Test

الإتاحة: https://doi.org/20.500.11815/4080Test
https://doi.org/10.1038/s41431-022-01155-1Test
https://hdl.handle.net/20.500.11815/4080Test

المؤلفون: Francesca Forzano 1, Olga Antonova 2, Angus Clarke 3, Guido de Wert 4, Sabine Hentze 5, Yalda Jamshidi 6, Yves Moreau 7, Markus Perola 8, Inga Prokopenko 9 10 11, Andrew Read 12, Alexandre Reymond 13, Vigdis Stefansdottir 14, Carla van El 15, Genuardi M., 16 17, Executive Committee of the European Society of Human Genetics, Public and Professional Policy Committee of the European Society of Human Genetics

المساهمون: Francesca Forzano, 1, Olga Antonova, 2, Angus Clarke, 3, Guido de Wert, 4, Sabine Hentze, 5, Yalda Jamshidi, 6, Yves Moreau, 7, Markus Perola, 8, Inga Prokopenko, 9 10 11, Andrew Read, 12, Alexandre Reymond, 13, Vigdis Stefansdottir, 14, Carla van El, 15, Genuardi, M., 16, 17, Executive Committee of the European Society of Human, Genetic, Public and Professional Policy Committee of the European Society of Human, Genetics

مصطلحات موضوعية: genetic testing, Settore MED/03 - GENETICA MEDICA

العلاقة: volume:2022; issue:5; firstpage:493; lastpage:495; numberofpages:3; issueyear:2022; journal:EUROPEAN JOURNAL OF HUMAN GENETICS; https://hdl.handle.net/10807/219715Test

الإتاحة: https://doi.org/10.1038/s41431-021-01000-xTest
https://hdl.handle.net/10807/219715Test

المؤلفون: Cilia, Chanelle, Vassallo, Josanne, Xuereb-Anastasi, Angela, Formosa, Melissa Marie, 51st European Society of Human Genetics Conference

مصطلحات موضوعية: Osteoporosis -- Genetic aspects, Osteoporosis -- Malta, Whole genome sequencing, Bone density

العلاقة: Cilia, C., Vassallo, J., Xuereb-Anastasi, A., & Formosa, M. M. (2019). Searching for osteoporosis genes : the use of WGS in an extended Maltese family with osteoporosis. European Journal of Human Genetics, 27, 915.; https://www.um.edu.mt/library/oar/handle/123456789/93073Test

الإتاحة: https://www.um.edu.mt/library/oar/handle/123456789/93073Test

المؤلفون: Fellmann, F, van El, CG, Charron, P, Michaud, K, Howard, HC, Boers, SN, Clarke, AJ, Duguet, A-M, Forzano, F, Kauferstein, S, Kayserili, H, Lucassen, A, Mendes, Á, Patch, C, Radojkovic, D, Rial-Sebbag, E, Sheppard, MN, Tassé, A-M, Temel, SG, Sajantila, A, Basso, C, Wilde, AAM, Cornel, MC, on behalf of European Society of Human Genetics, European Counci

وصف الملف: application/pdf

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/111012/1/genetic%20testing%20in%20scd%202019%20s41431-019-0445-y.pdfTest; Fellmann, F; van El, CG; Charron, P; Michaud, K; Howard, HC; Boers, SN; Clarke, AJ; Duguet, A-M; Forzano, F; Kauferstein, S; et al. Fellmann, F; van El, CG; Charron, P; Michaud, K; Howard, HC; Boers, SN; Clarke, AJ; Duguet, A-M; Forzano, F; Kauferstein, S; Kayserili, H; Lucassen, A; Mendes, Á; Patch, C; Radojkovic, D; Rial-Sebbag, E; Sheppard, MN; Tassé, A-M; Temel, SG; Sajantila, A; Basso, C; Wilde, AAM; Cornel, MC; on behalf of European Society of Human Genetics, European Counci (2019) European recommendations integrating genetic testing into multidisciplinary management of sudden cardiac death. Eur J Hum Genet, 27 (12). pp. 1763-1773. ISSN 1476-5438 https://doi.org/10.1038/s41431-019-0445-yTest SGUL Authors: Sheppard, Mary Noelle

الإتاحة: https://doi.org/10.1038/s41431-019-0445-yTest
https://openaccess.sgul.ac.uk/id/eprint/111012Test/
https://openaccess.sgul.ac.uk/id/eprint/111012/1/genetic%20testing%20in%20scd%202019%20s41431-019-0445-y.pdfTest

المؤلفون: Brouillard, Pascal, European Society of Human Genetics Hybrid Conference 2022

المساهمون: UCL - SSS/DDUV/GEHU - Génétique

العلاقة: boreal:273705; http://hdl.handle.net/2078.1/273705Test

الإتاحة: http://hdl.handle.net/2078.1/273705Test

المؤلفون: Harper, JC, Aittomaki, K, Borry, P, Cornel, MC, de Wert, G, Dondorp, W, Geraedts, J, Gianaroli, L, Ketterson, K, Liebaers, I, Lundin, K, Mertes, H, Morris, M, Pennings, G, Sermon, K, Spits, C, Soini, S, van Montfoort, APA, Veiga, A, Vermeesch, JR, Viville, S, Macek, M, European Society of Human Reproduction and Embryology, ., European Society of Human Genetics, .

المصدر: European Journal of Human Genetics , 26 pp. 12-33. (2018)

مصطلحات موضوعية: Assisted reproductive technology, Epigenetics, Expanded carrier screening, Gamete donor anonymity, Germline genome editing, Female infertility, Male infertility, Mitochondrial replacement therapy, Non-invasive prenatal testing, Preimplantation genetic testing

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10047672/1/s41431-017-0016-z.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10047672Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10047672/1/s41431-017-0016-z.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10047672Test/

المؤلفون: Forzano, Francesca, Antonova, Olga, Clarke, Angus, de Wert, Guido, Hentze, Sabine, Jamshidi, Yalda, Moreau, Yves, Perola, Markus, Prokopenko, Inga, Read, Andrew, Reymond, Alexandre, Stefansdottir, Vigdis, van El, Carla, Genuardi, Maurizio, Peterlin, Borut, Oliveira, Carla, Writzl, Karin, Houge, Gunnar Douzgos, Cordier, Christophe, Howard, Heidi, Macek, Milan, Melegh, Béla, Mendes, Alvaro, Radojkovic, Dragica, Rial-Sebbag, Emmanuelle, Ulph, Fiona, Executive Committee of the European Society of Human Genetics, Public and Professional Policy Committee of the European Society of Human Genetics

المصدر: European Journal of Human Genetics; 31(3), pp 279-281 (2023) ; ISSN: 1018-4813

مصطلحات موضوعية: Medical Ethics

العلاقة: https://lup.lub.lu.se/record/0e8bb5b3-6247-47aa-99f5-08dfe53588e7Test; http://dx.doi.org/10.1038/s41431-022-01241-4Test; pmid:36450798; scopus:85143233315

الإتاحة: https://doi.org/10.1038/s41431-022-01241-4Test
https://lup.lub.lu.se/record/0e8bb5b3-6247-47aa-99f5-08dfe53588e7Test