المؤلفون: Ingvoldstad, C, Seven, M, Taris, N, Cordier, C, Paneque, M, Skirton, H

المصدر: Journal of community genetics. 7(2):107-18

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:226452349

المؤلفون: Pestoff, R, Ingvoldstad, C, Skirton, H

المصدر: European journal of human genetics : EJHG. 24(3):350-355

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:132995779

المؤلفون: Borry, P., Bentzen, H. B., Budin-Ljøsne, I., Cornel, M. C., Howard, H.C., Feeney, O., Jackson, L., Mascalzoni, D., Mendes, A., Peterlin, B., Riso, B., Shabani, M., Skirton, H., Sterckx, S., Vears, D. F., Wjst, M., Felzmann, H.

مصطلحات موضوعية: Genomics, Clinical and research genomic data, Return of results, Data sharing, Informed consent, Direct-to-consumer genetic testing, Domínio/Área Científica::Ciências Médicas::Medicina Clínica, Domínio/Área Científica::Ciências Médicas::Ciências da Saúde

Relation: COST Action IS10303 CHIP ME; info:eu-repo/grantAgreement/FCT/5876/147300/PT; info:eu-repo/grantAgreement/FCT/SFRH/SFRH%2FBPD%2F88647%2F2012/PT; NFR BIOTEK2021/ES495029; 245464; M13-0260:1; SFRH/BD/100779/2014; BIOTEK2021/238999; http://hdl.handle.net/10071/15379

الاتاحة: http://hdl.handle.net/10071/15379
https://doi.org/10.1007/s12687-017-0331-7

المؤلفون: Borry, P, Bentzen, HB, Budin-Ljøsne, I, Cornel, MC, Howard, HC, Feeney, O, Jackson, L, Mascalzoni, D, Mendes, Á, Peterlin, B, Riso, B, Shabani, M, Skirton, H, Sterckx, S, Vears, D, Wjst, M, Felzmann, H

Relation: pii: 10.1007/s12687-017-0331-7; Borry, P., Bentzen, H. B., Budin-Ljøsne, I., Cornel, M. C., Howard, H. C., Feeney, O., Jackson, L., Mascalzoni, D., Mendes, Á., Peterlin, B., Riso, B., Shabani, M., Skirton, H., Sterckx, S., Vears, D., Wjst, M. & Felzmann, H. (2018). The challenges of the expanded availability of genomic information: an agenda-setting paper. J Community Genet, 9 (2), pp.103-116. https://doi.org/10.1007/s12687-017-0331-7.; http://hdl.handle.net/11343/271129

الاتاحة: http://hdl.handle.net/11343/271129

المؤلفون: Godino L., Turchetti D., Jackson L., Hennessy C., Skirton H.

المساهمون: Godino L., Turchetti D., Jackson L., Hennessy C., Skirton H.

مصطلحات موضوعية: Decision-making, Genetic counselling, Predictive genetic testing, Presymptomatic genetic testing, Theory, Young adults

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000686833400002; volume:aug 20; firstpage:0; lastpage:0; numberofpages:1; journal:JOURNAL OF COMMUNITY GENETICS; http://hdl.handle.net/11585/833628; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85113134110

الاتاحة: http://hdl.handle.net/11585/833628
https://doi.org/10.1007/s12687-021-00548-x

المؤلفون: Goodman, S, Skirton, H, Jackson, L, Jones, RB

مصطلحات موضوعية: bowel cancer, genetic testing, familial cancer, relatives, website, information sharing, genetic diagnosis, communication, cancer surveillance, Lynch syndrome

وصف الملف: 2404-2404; Electronic; application/pdf

Relation: E-ISSN:2072-6694; ARTN 2404; http://hdl.handle.net/10026.1/18170

الاتاحة: http://hdl.handle.net/10026.1/18170
https://doi.org/10.3390/cancers13102404

المؤلفون: Harper, J., Geraedts, J., Borry, P., Cornel, M.C., Dondorp, W.J., Gianaroli, L., Harton, G., Milachich, T., Kääriäinen, H., Liebaers, I., Morris, M., Sequeiros, J., Sermon, K., Shenfield, F., Skirton, H., Soini, S., Spits, C., Veiga, A., Vermeesch, J.R., Viville, S., de Wert, G., Macek Jr., M.

المصدر: Harper , J , Geraedts , J , Borry , P , Cornel , M C , Dondorp , W J , Gianaroli , L , Harton , G , Milachich , T , Kääriäinen , H , Liebaers , I , Morris , M , Sequeiros , J , Sermon , K , Shenfield , F , Skirton , H , Soini , S , Spits , C , Veiga , A , Vermeesch , J R , Viville , S , de Wert , G & Macek Jr. , M 2014 , ' Current issues in medically ....

مصطلحات موضوعية: assisted reproduction technology, European Society of Human Genetics, European Society of Human Reproduction and Embryology, reproductive genetics, IVF, ESHRE PGD CONSORTIUM, EMBRYONIC STEM-CELLS, HUMAN PREIMPLANTATION EMBRYOS, IN-SITU HYBRIDIZATION, PRACTICE GUIDELINES, MALE-FERTILITY, CHROMOSOMAL-ABNORMALITIES, EPIGENETIC INHERITANCE, RECURRENT MISCARRIAGE, ANEUPLOID EMBRYOS

وصف الملف: application/pdf

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/98522020-0a5e-45c1-9a53-15806030157b
https://doi.org/10.1093/humrep/deu130
https://cris.maastrichtuniversity.nl/ws/files/72876999/dondorp_2012_current_issues_in_medically_assisted.pdf

المؤلفون: Jackson, L., Goldsmith, L., Skirton, H.

المصدر: Family Practice ; volume 31, issue 3, page 341-348 ; ISSN 0263-2136 1460-2229

الاتاحة: https://doi.org/10.1093/fampra/cmt087
http://academic.oup.com/fampra/article-pdf/31/3/341/1671426/cmt087.pdf

المؤلفون: Ludlam, C. A., Pasi, K. J., Bolton‐Maggs, P., Collins, P. W., Cumming, A. M., Dolan, G., Fryer, A., Harrington, C., Hill, F. G. H., Peake, I. R., Perry, D. J., Skirton, H., Smith, M.

المصدر: Haemophilia ; volume 11, issue 2, page 145-163 ; ISSN 1351-8216 1365-2516

الاتاحة: http://dx.doi.org/10.1111/j.1365-2516.2005.01070.x
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1365-2516.2005.01070.x
https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1365-2516.2005.01070.x

المؤلفون: Skirton, H, Barnes, C, Guilbert, P, Kershaw, A, Kerzin-Storrar, L, Patch, C, Curtis, G, Walford-Moore, J

مصطلحات موضوعية: Research Article

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/35/5/410; http://dx.doi.org/10.1136/jmg.35.5.410

الاتاحة: http://jmg.bmj.com/cgi/content/short/35/5/410
https://doi.org/10.1136/jmg.35.5.410

المؤلفون: Stefansdottir, V, Skirton, H, Johannsson, O Th, Olafsdottir, H, Olafsdottir, G H, Tryggvadottir, L, Jonsson, J J

المساهمون: 1 Department of Genetics and Molecular Medicine, Landspitali - National University Hospital, Hringbraut, 101, Reykjavik, Iceland. 2 Department of Biochemistry and Molecular Biology, Univ. of Iceland, Reykjavik, Iceland. 3 Faculty of Health and Human Sciences, Plymouth University, Plymouth, UK. 4 Department Of Medical Oncology, Landspitali - National University Hospital, Reykjavik, Iceland. 5 Icelandic Cancer Registry, Icelandic Cancer Society, Reykjavik, Iceland. 6 Faculty of Medicine, Univ. of Iceland, Reykjavik, Iceland. 7 Department of Genetics and Molecular Medicine, Landspitali - National University Hospital, Hringbraut, 101, Reykjavik, Iceland. jonjj@hi.is. 8 Department of Biochemistry and Molecular Biology, Univ. of Iceland, Reykjavik, Iceland. jonjj@hi.is. 9 Genetical Committee of the University of Iceland, Reykjavik, Iceland. jonjj@hi.is.

المصدر: Familial cancer

مصطلحات موضوعية: BRCA2, Breast cancer, Cancer genetic counseling, Electronically generated pedigrees, Genealogy database, Brjóstakrabbamein, Gen, Erfðafræði, Erfðaráðgjöf, Ættartöl, Breast Neoplasms, Genetic Counseling, Pedigree

Relation: https://link.springer.com/article/10.1007/s10689-018-0105-3; Electronically ascertained extended pedigrees in breast cancer genetic counseling. 2109, 18(2):153-160 Fam Cancer; http://hdl.handle.net/2336/620927; Familial Cancer

الاتاحة: http://hdl.handle.net/2336/620927
https://doi.org/10.1007/s10689-018-0105-3

المؤلفون: Skirton, H, Barnes, C, Curtis, G, Walford-Moore, J

المصدر: Journal of Medical Genetics ; volume 34, issue 2, page 141-147 ; ISSN 1468-6244

الاتاحة: http://dx.doi.org/10.1136/jmg.34.2.141
https://syndication.highwire.org/content/doi/10.1136/jmg.34.2.141

المؤلفون: Jackson, L., Cornel, M., Paneque, M., Stefansdottir, V., Turchetti, D., Curtisova, V., Lunt, P. W., Campos, M., Kent, A., Macek, M., Jr., Houwink, E., O'Connor, A., Skirton, H.

المساهمون: APH - Quality of Care, APH - Personalized Medicine, Human genetics, Amsterdam Reproduction & Development (AR&D)

المصدر: European Journal of Human Genetics, 26, 71-72. Nature Publishing Group
Jackson, L, Cornel, M, Paneque, M, Stefansdottir, V, Turchetti, D, Curtisova, V, Lunt, P W, Campos, M, Kent, A, Macek, M J, Houwink, E, O'Connor, A & Skirton, H 2018, ' The European Gen-Equip project to create accessible resources for genetics education in primary care: an account of the process, the challenges and the successes ', European Journal of Human Genetics, vol. 26, pp. 71-72 .

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::c14736423e9ea39508ef9c2a7ad489ae
https://research.vumc.nl/en/publications/7cc1a88a-3f49-484e-a11d-ab9b70f63d49

المؤلفون: Connor, J M, Skirton, H, Lunt, P W

مصطلحات موضوعية: Research Article

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/30/8/687; http://dx.doi.org/10.1136/jmg.30.8.687

الاتاحة: http://jmg.bmj.com/cgi/content/short/30/8/687
https://doi.org/10.1136/jmg.30.8.687

المؤلفون: Peters, Jane, Skirton, H, Morgan, J, Clark, M

المصدر: Journal of Child Health Care ; volume 23, issue 2, page 242-255 ; ISSN 1367-4935 1741-2889

الاتاحة: https://doi.org/10.1177/1367493518787311
http://journals.sagepub.com/doi/pdf/10.1177/1367493518787311
http://journals.sagepub.com/doi/full-xml/10.1177/1367493518787311

المؤلفون: Severin, F., Borry, P., Cornel, M. C., Daniels, N., Fellmann, F., Victoria Hodgson, S., Howard, H. C., John, J., Kaariainen, H., Kayserili, H., Kent, A., Koerber, F., Kristoffersson, U., Kroese, M., Lewis, C., Marckmann, G., Meyer, P., Pfeufer, A., Schmidtke, J., Skirton, H., Tranebjaerg, L., Rogowski, W. H., EuroGentest, committee, Eshg Pppc Priority, Consortium

المصدر: Eur J Hum Genet. 23(6):729-35

مصطلحات موضوعية: Clinical Laboratory Services/ethics/*legislation & jurisprudence/standards, Consensus, Europe, Genetic Testing/ethics/*legislation & jurisprudence/standards, Social Responsibility, Bioetik, Bioethics

وصف الملف: print

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-342720
http://www.ncbi.nlm.nih.gov/pubmed/25248395

المؤلفون: Paneque, M, Cornel, MC, Curtisova, V, Houwink, E, Jackson, L, Kent, A, Lunt, P, Macek, M, Stefansdottir, V, Turchetti, D, Skirton, H

مصطلحات موضوعية: Primary care, Family medicine, General practitioner, Online education, Genetics, Professional education

وصف الملف: 147-150; Print-Electronic; application/pdf

Relation: E-ISSN:1868-6001; http://hdl.handle.net/10026.1/9269

الاتاحة: http://hdl.handle.net/10026.1/9269
https://doi.org/10.1007/s12687-017-0296-6

المؤلفون: Paneque, M, Moldovan, R, Cordier, C, Serra-Juhé, C, Feroce, I, Pasalodos, S, Haquet, E, Lambert, D, Bjørnevoll, I, Skirton, H

مصطلحات موضوعية: Adult, Attitude, Certification, Counselors, Europe, Female, Genetic Counseling, Humans, Male, Middle Aged, Nurses

وصف الملف: 1075-1077; Print-Electronic; application/pdf

Relation: E-ISSN:1476-5438; http://hdl.handle.net/10026.1/9655

الاتاحة: http://hdl.handle.net/10026.1/9655
https://doi.org/10.1038/ejhg.2017.84

المؤلفون: Phipps, J, Skirton, H

مصطلحات موضوعية: Genetic counselling, Prenatal testing, Muenke syndrome, Craniosynostosis, NIPD

وصف الملف: 1130-1142; Print-Electronic; application/pdf

Relation: E-ISSN:1573-3599; http://hdl.handle.net/10026.1/8692

الاتاحة: http://hdl.handle.net/10026.1/8692
https://doi.org/10.1007/s10897-017-0094-7

المؤلفون: McAllister, M, Moldovan, R, Paneque, M, Skirton, H

مصطلحات موضوعية: Europe, Evidence-Based Practice, Genetic Counseling, Humans, Practice Guidelines as Topic

وصف الملف: 504-505; Print-Electronic

Relation: E-ISSN:1476-5438; http://hdl.handle.net/10026.1/3960

الاتاحة: http://hdl.handle.net/10026.1/3960
https://doi.org/10.1038/ejhg.2015.134