المؤلفون: Carrieri, Daniele, Howard, Heidi C., Benjamin, Caroline^{Aff3, Aff4}, Clarke, Angus J., Dheensa, Sandi, Doheny, Shane, Hawkins, Naomi, Halbersma-Konings, Tanya F., Jackson, Leigh, Kayserili, Hülya, Kelly, Susan E., Lucassen, Anneke M.^{Aff6, Aff11}, Mendes, Álvaro, Rial-Sebbag, Emmanuelle, Stefánsdóttir, Vigdís, Turnpenny, Peter D., van El, Carla G., van Langen, Irene M., Cornel, Martina C., Forzano, Francesca^Aff17, On behalf of the European Society of Human Genetics

المصدر: European Journal of Human Genetics. 27(2):169-182

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المؤلفون: de Wert, Guido^Aff1, Pennings, Guido, Clarke, Angus, Eichenlaub-Ritter, Ursula, van El, Carla G., Forzano, Francesca, Goddijn, Mariëtte, Heindryckx, Björn, Howard, Heidi C., Radojkovic, Dragica, Rial-Sebbag, Emmanuelle, Tarlatzis, Basil C., Cornel, Martina C., On behalf of the European Society of Human Genetics and the European Society of Human Reproduction and Embryology

المصدر: European Journal of Human Genetics. 26(4):445-449

المؤلفون: Howard, Heidi C.^Aff1, van El, Carla G., Forzano, Francesca, Radojkovic, Dragica, Rial-Sebbag, Emmanuelle, de Wert, Guido, Borry, Pascal, Cornel, Martina C., on behalf of the Public and Professional Policy Committee of the European Society of Human Genetics

المصدر: European Journal of Human Genetics. 26(1):1-11

المؤلفون: Harper, J. C., Aittomäki, K., Borry, P., Cornel, M. C., de Wert, G., Dondorp, W., Geraedts, J., Gianaroli, L., Ketterson, K., Liebaers, I.^{Aff9, Aff13}, Lundin, K., Mertes, H., Morris, M., Pennings, G., Sermon, K., Spits, C., Soini, S., van Montfoort, A. P. A., Veiga, A.^{Aff16, Aff17}, Vermeesch, J. R., Viville, S.^{Aff19, Aff20}, Macek Jr., M.^Aff21, on behalf of the European Society of Human Reproduction and Embryology and European Society of Human Genetics

المصدر: European Journal of Human Genetics. 26(1):12-33

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: Genetics, 3111 Biomedicine, Genetics (clinical)

وصف الملف: fulltext

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8025c19f51ee882babef730c75c1bc87
https://trepo.tuni.fi/handle/10024/147209

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::e4cecdd9c0f1e30b6941814a2ccf1777
https://openaccess.sgul.ac.uk/id/eprint/113991/3/s41431-021-01000-x.pdf

المؤلفون: Franková, Věra, Driscoll, Riona O., Jansen, Marleen E., Loeber, J. Gerard, Kožich, Viktor, Bonham, James, Borde, Patricia, Brincat, Ian, Cheillan, David, Dekkers, Eugenie, Fingerhut, Ralph, Kuš, Iva Bilandžija, Girginoudis, Panagiotis, Groselj, Urh, Hougaard, David, Knapková, Mária, la Marca, Giancarlo, Malniece, Ieva, Nanu, Michaela Iuliana, Nennstiel, Uta, Olkhovych, Nataliia, Oltarzewski, Mariusz, Pettersen, Rolf D., Racz, Gabor, Reinson, Karit, Salimbayeva, Damilya, Songailiene, Jurgita, Vilarinho, Laura, Vogazianos, Marios, Zetterström, Rolf H., Zeyda, Maximilian, Members of the European Society of Human Genetics (ESHG)-EuroGentest Quality Sub-Committee

المساهمون: CarMeN, laboratoire, First Faculty of Medicine Charles University [Prague], National Institute for Public Health and the Environment [Bilthoven] (RIVM), International Society for Neonatal Screening Office [Bilthoven, The Netherlands] (ISNSO), Sheffield Children's NHS Foundation Trust, Mater Dei Hospital [Malta], Hospices Civils de Lyon (HCL), University Children’s Hospital Zurich, University Hospital Centre Zagreb, Partenaires INRAE, Institute of Child Health [Athens, Greece], University Medical Centre Ljubljana [Ljubljana, Slovenia] (UMCL), Statens Serum Institute [Copenhagen], Matej Bel University (UMB), Children's University Hospital [Banska Bystrica, Slovakia] (CUH-BB), Azienda Ospedaliero Universitaria A. Meyer [Firenze, Italy], Children's Clinical University Hospital [Riga, Latvia] (CCUH), National Institute for Mother & Child Health [Bucharest, Romania] (NIMCH), Bavarian Health and Food Safety Authority [Oberschleißheim, Germany], National Children's Specialized Hospital 'Okhmatdyt' [Kiev, Ukraine] (NCSHO), National Research Institute of Mother and Child [Warsaw, Poland], Oslo University Hospital [Oslo], University of Szeged [Szeged], Tartu University Hospital [Tartu, Estonia], Scientific centre of Gynaecology, Obstetrics and Perinatology [Almaty, Kazakhstan] (SGOP), International Science and Technology Center [Almaty, Kazakhstan] ( ISTC), Vilnius University [Vilnius], Instituto Nacional de Saùde Dr Ricardo Jorge [Portugal] (INSA), Limassol General Hospital, Karolinska University Hospital [Solna, Sweden] (KUH), Medizinische Universität Wien = Medical University of Vienna, Human genetics, APH - Quality of Care

المصدر: European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2021, 29 (1), pp.67-78. ⟨10.1038/s41431-020-00716-6⟩
European Journal of Human Genetics, 29(1), 67-78. Nature Publishing Group
Eur J Hum Genet
Members of the European Society of Human Genetics (ESHG)-EuroGentest Quality Sub-Committee 2021, ' Regulatory landscape of providing information on newborn screening to parents across Europe ', European Journal of Human Genetics, vol. 29, no. 1, pp. 67-78 . https://doi.org/10.1038/s41431-020-00716-6

مصطلحات موضوعية: Male, Parents, European level, Best practice, [SDV]Life Sciences [q-bio], MEDLINE, Disclosure, Guidelines, Article, Public healthcare, 03 medical and health sciences, Neonatal Screening, 0302 clinical medicine, Surveys and Questionnaires, 030225 pediatrics, Genetics, Humans, European Union, Genetic Testing, 030212 general & internal medicine, Genetics (clinical), Medical education, Newborn screening, Infant, Newborn, food and beverages, Organizational Policy, 3. Good health, Doenças Genéticas, Europe, [SDV] Life Sciences [q-bio], Practice Guidelines as Topic, embryonic structures, Female, Sample collection, Business, Newborn Screening

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f843368f9a6852b0b411d4955f565d13
https://www.hal.inserm.fr/inserm-03274425

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

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3549::5e55159e3e1d11fc5fcbef8e0a7f3c1a
https://www.um.edu.mt/library/oar/handle/123456789/93073

المؤلفون: Dondorp, W., de Wert, G., Bombard, Y., Bianchi, D. W., Bergmann, C., Borry, P., Chitty, L. S., Fellmann, F., Forzano, F., Hall, A., Henneman, L., Howard, H. C., Lucassen, A., Ormond, K., Peterlin, B., Radojkovic, D., Rogowski, W., Soller, M., Tibben, A., Tranebjaerg, L., van El, C. G., Cornel, M. C., European Society of Human, Genetics, American Society of Human, Genetics

المصدر: Eur J Hum Genet. 23(11):1438-50

مصطلحات موضوعية: *Aneuploidy, Chromosome Disorders/*diagnosis/genetics, Down Syndrome/*diagnosis/genetics, Female, Genetic Counseling, Humans, Pregnancy, *Prenatal Diagnosis, Trisomy/genetics, Ultrasonography, Prenatal, Bioetik, Bioethics

وصف الملف: print

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-342718
http://www.ncbi.nlm.nih.gov/pubmed/25782669