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1دورية أكاديمية
المؤلفون: Fellmann, F, van El, CG, Charron, P, Michaud, K, Howard, HC, Boers, SN, Clarke, AJ, Duguet, AM, Forzano, F, Kauferstein, S, Kayserili, H, Lucassen, A, Mendes, A, Patch, C, Radojkovic, D, Rial-Sebbag, E, Sheppard, MN, Tasse, AM, Temel, SG, Sajantila, A, Basso, C, Wilde, AAM, Cornel, MC, Benjamin, C, Borry, P, Clarke, A, Cordier, C, Cornel, M, van El, C, Howard, H, Melegh, B, Perola, M, Peterlin, B, Rogowski, W, Soller, M, Stefansdottir, V, de Wert, G
المصدر: European journal of human genetics : EJHG. 27(12):1763-1773
مصطلحات موضوعية: Medicin och hälsovetenskap
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2دورية أكاديمية
المؤلفون: Pagnamenta, A.T., Yu, J., Walker, S., Noble, A.J., Lord, J., Dutta, P., Hashim, M., Camps, C., Green, H., Devaiah, S., Nashef, L., Parr, J., Fratter, C., Ibnouf Hussein, R., Lindsay, S.J., Lalloo, F., Banos-Pinero, B., Evans, D., Mallin, L., Waite, A., Evans, J., Newman, A., Allen, Z., Perez-Becerril, C., Ryan, G., Hart, R., Taylor, J., Bedenham, T., Clement, E., Blair, E., Hay, E., Forzano, F., Higgs, J., Canham, N., Majumdar, A., McEntagart, M., Lahiri, N., Stewart, H., Smithson, S., Calpena, E., Jackson, A., Banka, S., Titheradge, H., McGowan, R., Rankin, J., Shaw-Smith, C., Evans, D.G., Burghel, G.J., Smith, M.J., Anderson, E., Madhu, R., Firth, H., Ellard, S., Brennan, P., Anderson, C., Taupin, D., Rogers, M.T., Cook, J.A., Durkie, M., East, J.E., Fowler, D., Wilson, L., Igbokwe, R., Gardham, A., Tomlinson, I., Baralle, D., Uhlig, H.H., Taylor, J.C.
وصف الملف: text
العلاقة: https://eprints.whiterose.ac.uk/214063/1/The%20impact%20of%20inversions%20across%2033,924%20families%20with%20rare%20disease%20from%20a%20national%20genome%20sequencing%20project.pdfTest; Pagnamenta, A.T. orcid.org/0000-0001-7334-0602 , Yu, J., Walker, S. et al. (65 more authors) (2024) The impact of inversions across 33,924 families with rare disease from a national genome sequencing project. The American Journal of Human Genetics, 111 (6). pp. 1140-1164. ISSN 0002-9297
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3تقرير
المؤلفون: Copeland, H., Low, K.J., Wynn, S., Ahmed, A., Arthur, V., Balasubramanian, M., Bennett, K., Berg, J., Bertoli, M., Bryson, L., Bucknall, C., Campbell, J., Chandler, K., Chauhan, J., Clarkson, A., Coles, R., Conti, H., Costello, P., Coupar, T., Craig, A., Dean, J., Dillon, A., Dixit, A., Drew, K., Eason, J., Forzano, F., Foulds, N., Gardham, A., Ghali, N., Green, A., Hanna, W., Harrison, R., Hegarty, M., Higgs, J., Holder, M., Irving, R., Jain, V., Johnson, K., Jolley, R., Jones, W., Jones, G., Joss, S., Kalinauskiene, R., Kanini, F., Kavanagh, K., Khan, M., Khan, N., Kivuva, E., Lahiri, N., Lakhani, N., Lampe, A., Lynch, S.A., Mansour, S., Marsden, A., Massey, H., McKee, S., Mohammed, S., Naik, S., Nesarajah, M., Newbury-Ecob, R., Osborne, F., Parker, M.J., Patterson, J., Pottinger, C., Prapa, M., Prescott, K., Quinn, S., Radley, J.A., Robart, S., Ross, A., Rosti, G., Sansbury, F., Sarkar, A., Searle, C., Shannon, N., Shears, D., Smithson, S., Stewart, H., Suri, M., Tadros, S., Theobald, R., Thomas, R., Tsoulaki, O., Vasudevan, P., Verdesoto, M., Vittery, E., Whyte, S., Woods, E., Wright, T., Zocche, D., Firth, H.V., Wright, C.F.
وصف الملف: text
العلاقة: https://eprints.whiterose.ac.uk/208872/3/2023.10.18.23297202v1.full.pdfTest; Copeland, H., Low, K.J., Wynn, S. et al. (89 more authors) (Submitted: 2023) Large-scale evaluation of outcomes following a genetic diagnosis in children with severe developmental disorders. [Preprint - medRxiv] (Submitted)
الإتاحة: https://doi.org/10.1101/2023.10.18.23297202Test
https://eprints.whiterose.ac.uk/208872Test/
https://eprints.whiterose.ac.uk/208872/3/2023.10.18.23297202v1.full.pdfTest -
4دورية أكاديمية
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., Peterlin, B., Oliveira, C., Writzl, K., Houge, G.D., Cordier, C., Howard, H., Macek, M., Melegh, B., Mendes, A., Radojkovic, D., Rial-Sebbag, E., Ulph, F.
المصدر: 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 , Genuardi , M , Peterlin , B , Oliveira , C , Writzl , K , Houge , G D , Cordier , C , Howard , H , Macek , M , Melegh , B , Mendes , A , ....
الإتاحة: https://doi.org/10.1038/s41431-022-01263-yTest
https://doi.org/10.1038/s41431-022-01241-4Test
https://research.manchester.ac.uk/en/publications/39ae9bd1-0ad4-4f75-b771-26d6fe119f8cTest -
5دورية أكاديمية
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., Maurizio, G., Peterlin, B., Oliveira, C., Writzl, K., Houge, G.D., Cordier, C., Howard, H., Macek, M., Melegh, B., Mendes, A., Radojkovic, D., Rial-Sebbag, E., Stefánsdottir, V., Ulph, F.
المصدر: 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 , Maurizio , G , Peterlin , B , Oliveira , C , Writzl , K , Houge , G D , Cordier , C , de Wert , G , Howard , H , Macek , M , Melegh , B ....
الإتاحة: https://doi.org/10.1038/s41431-022-01067-0Test
https://doi.org/10.1038/s41431-021-01000-xTest
https://research.manchester.ac.uk/en/publications/8ed4464b-d0ad-4add-b750-005c6fd6eb9aTest -
6دورية أكاديمية
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.
المصدر: 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 of Human Genetics 2022 , ' The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice ' , ....
العلاقة: https://cris.maastrichtuniversity.nl/en/publications/7273d38d-4524-40a2-8d92-5dab3ee5a865Test
الإتاحة: https://doi.org/10.1038/s41431-021-01000-xTest
https://cris.maastrichtuniversity.nl/en/publications/7273d38d-4524-40a2-8d92-5dab3ee5a865Test -
7دورية أكاديمية
المؤلفون: Modenato C., Kumar K., Moreau C., Martin-Brevet S., Huguet G., Schramm C., Jean-Louis M., Martin C. -O., Younis N., Tamer P., Douard E., Thebault-Dagher F., Cote V., Charlebois A. -R., Deguire F., Maillard A. M., Rodriguez-Herreros B., Pain A., Richetin S., Addor M. -C., Andrieux J., Arveiler B., Baujat G., Sloan-Bena F., Belfiore M., Bonneau D., Bouquillon S., Boute O., Brusco A., Busa T., Caberg J. -H., Campion D., Colombert V., Cordier M. -P., David A., Debray F. -G., Delrue M. -A., Doco-Fenzy M., Dunkhase-Heinl U., Edery P., Fagerberg C., Faivre L., Forzano F., Genevieve D., Gerard M., Giachino D., Guichet A., Guillin O., Heron D., Isidor B., Jacquette A., Jaillard S., Journel H., Keren B., Lacombe D., Lebon S., Le Caignec C., Lemaitre M. -P., Lespinasse J., Mathieu-Dramart M., Mercier S., Mignot C., Missirian C., Petit F., Pilekaer Sorensen K., Pinson L., Plessis G., Prieur F., Raymond A., Rooryck-Thambo C., Rossi M., Sanlaville D., Schlott Kristiansen B., Schluth-Bolard C., Till M., Van Haelst M., Van Maldergem L., Alupay H., Aaronson B., Ackerman S., Ankenman K., Anwar A., Atwell C., Bowe A., Beaudet A. L., Benedetti M., Berg J., Berman J., Berry L. N., Bibb A. L., Blaskey L., Brennan J., Brewton C. M., Buckner R., Bukshpun P., Burko J., Cali P., Cerban B., Chang Y., Cheong M., Chow V., Chu Z., Chudnovskaya D., Cornew L., Dale C., Dell J., Dempsey A. G., Deschamps T., Earl R., Edgar J., Elgin J., Olson J. E., Evans Y. L., Findlay A., Fischbach G. D., Fisk C., Fregeau B., Gaetz B., Gaetz L., Garza S., Gerdts J., Glenn O., Gobuty S. E., Golembski R., Greenup M., Heiken K., Hines K., Hinkley L., Jackson F. I., Jenkins J., Jeremy R. J., Johnson K., Kanne S. M., Kessler S., Khan S. Y., Ku M., Kuschner E., Laakman A. L., Lam P., Lasala M. W., Lee H., LaGuerre K., Levy S., Cavanagh A. L., Llorens A. V., Campe K. L., Luks T. L., Marco E. J., Martin S., Martin A. J., Marzano G., Masson C., McGovern K. E., Keehn R. M. N., Miller D. T., Miller F. K., Moss T. J., Murray R., Nagarajan S. S., Nowell K. P., Owen J., Paal A. M., Packer A., Page P. Z., Paul B. M., Peters A., Peterson D., Poduri A., Pojman N. J., Porche K., Proud M. B., Qasmieh S., Ramocki M. B., Reilly B., Roberts T. P. L., Shaw D., Sinha T., Smith-Packard B., Gallagher A. S., Swarnakar V., Thieu T., Triantafallou C., Vaughan R., Wakahiro M., Wallace A., Ward T., Wenegrat J., Wolken A., Melie-Garcia L., Kushan L., Silva A. I., van den Bree M. B. M., Linden D. E. J., Owen M. J., Hall J., Lippe S., Chakravarty M., Bzdok D., Bearden C. E., Draganski B., Jacquemont S.
المساهمون: Modenato C., Kumar K., Moreau C., Martin-Brevet S., Huguet G., Schramm C., Jean-Louis M., Martin C.-O., Younis N., Tamer P., Douard E., Thebault-Dagher F., Cote V., Charlebois A.-R., Deguire F., Maillard A.M., Rodriguez-Herreros B., Pain A., Richetin S., Addor M.-C., Andrieux J., Arveiler B., Baujat G., Sloan-Bena F., Belfiore M., Bonneau D., Bouquillon S., Boute O., Brusco A., Busa T., Caberg J.-H., Campion D., Colombert V., Cordier M.-P., David A., Debray F.-G., Delrue M.-A., Doco-Fenzy M., Dunkhase-Heinl U., Edery P., Fagerberg C., Faivre L., Forzano F., Genevieve D., Gerard M., Giachino D., Guichet A., Guillin O., Heron D., Isidor B., Jacquette A., Jaillard S., Journel H., Keren B., Lacombe D., Lebon S., Le Caignec C., Lemaitre M.-P., Lespinasse J., Mathieu-Dramart M., Mercier S., Mignot C., Missirian C., Petit F., Pilekaer Sorensen K., Pinson L., Plessis G., Prieur F., Raymond A., Rooryck-Thambo C., Rossi M., Sanlaville D., Schlott Kristiansen B., Schluth-Bolard C., Till M., Van Haelst M., Van Maldergem L., Alupay H., Aaronson B., Ackerman S., Ankenman K., Anwar A., Atwell C., Bowe A., Beaudet A.L., Benedetti M., Berg J., Berman J., Berry L.N., Bibb A.L., Blaskey L., Brennan J., Brewton C.M., Buckner R., Bukshpun P., Burko J., Cali P., Cerban B., Chang Y., Cheong M.
مصطلحات موضوعية: Brain, Human, Magnetic Resonance Imaging, Neuroimaging, DNA Copy Number Variation, Schizophrenia
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34285187; info:eu-repo/semantics/altIdentifier/wos/WOS:000674910100001; volume:11; issue:1; firstpage:399; lastpage:408; numberofpages:10; journal:TRANSLATIONAL PSYCHIATRY; http://hdl.handle.net/2318/1808624Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85111690086; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8292542/pdf/41398_2021_Article_1490.pdfTest
الإتاحة: https://doi.org/10.1038/s41398-021-01490-9Test
http://hdl.handle.net/2318/1808624Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8292542/pdf/41398_2021_Article_1490.pdfTest -
8دورية أكاديمية
المؤلفون: Guida V., Calzari L., Fadda M. T., Piceci-Sparascio F., Digilio M. C., Bernardini L., Brancati F., Mattina T., Melis D., Forzano F., Briuglia S., Mazza T., Bianca S., Valente E. M., Salehi L. B., Prontera P., Pagnoni M., Tenconi R., Dallapiccola B., Iannetti G., Corsaro L., Luca A. D., Gentilini D.
المساهمون: Guida, V., Calzari, L., Fadda, M. T., Piceci-Sparascio, F., Digilio, M. C., Bernardini, L., Brancati, F., Mattina, T., Melis, D., Forzano, F., Briuglia, S., Mazza, T., Bianca, S., Valente, E. M., Salehi, L. B., Prontera, P., Pagnoni, M., Tenconi, R., Dallapiccola, B., Iannetti, G., Corsaro, L., Luca, A. D., Gentilini, D.
مصطلحات موضوعية: DNA-methylation, genome-wide, infinium human methylation 450K beadChip, OAVS, oculo-auriculo-vertebral spectrum, retinoic acid, eye, human, signal transduction, graves ophthalmopathy, interleukin-8
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33530447; info:eu-repo/semantics/altIdentifier/wos/WOS:000615288600001; volume:22; issue:3; firstpage:1; lastpage:19; numberofpages:19; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; http://hdl.handle.net/11573/1555518Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85099950529
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9دورية أكاديمية
المؤلفون: Modenato, C., Kumar, K., Moreau, C., Martin-Brevet, S., Huguet, G., Schramm, C., Jean-Louis, M., Martin, C.-O., Younis, N., Tamer, P., Douard, E., Thébault-Dagher, F., Côté, V., Charlebois, A.-R., Deguire, F., Maillard, A.M., Rodriguez-Herreros, B., Pain, A., Richetin, S., Addor, M.-C., Andrieux, J., Arveiler, B., Baujat, G., Sloan-Béna, F., Belfiore, M., Bonneau, D., Bouquillon, S., Boute, O., Brusco, A., Busa, T., CABERG, Jean-Hubert, Campion, D., Colombert, V., Cordier, M.-P., David, A., Debray, François-Guillaume, Delrue, M.-A., Doco-Fenzy, M., Dunkhase-Heinl, U., Edery, P., Fagerberg, C., Faivre, L., Forzano, F., Genevieve, D., Gérard, M., Giachino, D., Guichet, A., Guillin, O., Héron, D., Isidor, B., Jacquette, A., Jaillard, S., Journel, H., Keren, B., Lacombe, D., Lebon, S., Le Caignec, C., Lemaître, M.-P., Lespinasse, J., Mathieu-Dramart, M., Mercier, S., Mignot, C., Missirian, C., Petit, F., Pilekær Sørensen, K., Pinson, L., Plessis, G., Prieur, F., Raymond, A., Rooryck-Thambo, C., Rossi, M., Sanlaville, D., Schlott Kristiansen, B., Schluth-Bolard, C., Till, M., Van Haelst, M., Van Maldergem, L., Alupay, H., Aaronson, B., Ackerman, S., Ankenman, K., Anwar, A., Atwell, C., Bowe, A., Beaudet, A.L., Benedetti, M., Berg, J., Berman, J., Berry, L.N., Bibb, A.L., Blaskey, L., Brennan, J., Brewton, C.M., Buckner, R., Bukshpun, P., Burko, J., Cali, P., Cerban, B., Chang, Y., Cheong, M., Chow, V., Chu, Z., Chudnovskaya, D., Cornew, L., Dale, C., Dell, J., Dempsey, A.G., Deschamps, T., Earl, R., Edgar, J., Elgin, J., Olson, J.E., Evans, Y.L., Findlay, A., Fischbach, G.D., Fisk, C., Fregeau, B., Gaetz, B., Gaetz, L., Garza, S., Gerdts, J., Glenn, O., Gobuty, S.E., Golembski, R., Greenup, M., Heiken, K., Hines, K., Hinkley, L., Jackson, F.I., Jenkins, J., Jeremy, R.J., Johnson, K., Kanne, S.M., Kessler, S., Khan, S.Y., Ku, M., Kuschner, E., Laakman, A.L., Lam, P., Lasala, M.W., Lee, H., LaGuerre, K., Levy, S., Cavanagh, A.L., Llorens, A.V., Campe, K.L., Luks, T.L., Marco, E.J., Martin, S., Martin, A.J., Marzano, G., Masson, C., McGovern, K.E., Keehn, R.M.N., Miller, D.T., Miller, F.K., Moss, T.J., Murray, R., Nagarajan, S.S., Nowell, K.P., Owen, J., Paal, A.M., Packer, A., Page, P.Z., Paul, B.M., Peters, A., Peterson, D., Poduri, A., Pojman, N.J., Porche, K., Proud, M.B., Qasmieh, S., Ramocki, M.B., Reilly, B., Roberts, T.P.L., Shaw, D., Sinha, T., Smith-Packard, B., Gallagher, A.S., Swarnakar, V., Thieu, T., Triantafallou, C., Vaughan, R., Wakahiro, M., Wallace, A., Ward, T., Wenegrat, J., Wolken, A., Melie-Garcia, L., Kushan, L., Silva, A.I., van den Bree, M.B.M., Linden, D.E.J., Owen, M.J., Hall, J., Lippé, S., Chakravarty, M., Bzdok, D., Montreal Neurological Institute, McGill University, Bearden, C.E., Draganski, B., Jacquemont, S., 16p11.2 European Consortium, Simons Searchlight Consortium
المصدر: Translational Psychiatry, 11 (1) (2021)
مصطلحات موضوعية: Life sciences, Genetics & genetic processes, Sciences du vivant, Génétique & processus génétiques
العلاقة: urn:issn:2158-3188
الوصول الحر: https://orbi.uliege.be/handle/2268/297321Test
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10دورية أكاديمية
المؤلفون: Rots, D, Yamada, A, Mccon-Key, H, Kerkhof, J, Alders, M, Maystadt, I, Balasubramanian, M, Merla, G, San-ten, G, Belonis, A, Bouman, A, Kummeling, J, Heijligers, M, van Haelst, M, Metcalfe, K, Geneviève, D, Chatron, N, Putoux, A, Pasquier, L, Dubourg, C, Strobl-Wildemann, G, Plomp, A, Vreeburg, M, Baralle, D, Foulds, N, Scurr, I, Cappuccio, G, Brunetti-Pierri, N, Van Hagen, A, Bijlsma, EK, Firth, H, Forzano, F, Kalsner, L, Hol, JA, Courage, C, Vanhoutte, E, Banka, S, Venselaar, H, Kasri, NN, van Bokhoven, H, Brunner, H, Vissers, L, Shinkai, Y, Sadikovic, B, Kleefstra, T
المصدر: Rots , D , Yamada , A , Mccon-Key , H , Kerkhof , J , Alders , M , Maystadt , I , Balasubramanian , M , Merla , G , San-ten , G , Belonis , A , Bouman , A , Kummeling , J , Heijligers , M , van Haelst , M , Metcalfe , K , Geneviève , D , Chatron , N , Putoux , A , Pasquier , L , Dubourg , C , Strobl-Wildemann , G , Plomp , A , Vreeburg , M , Baralle , D , Foulds , ....
الإتاحة: https://doi.org/10.1038/s41431-023-01338-4Test
https://research.manchester.ac.uk/en/publications/e471f55a-b779-46da-8734-7267fae65f79Test
https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=pure_starter&SrcAuth=WosAPI&KeyUT=WOS:001050507001463&DestLinkType=FullRecord&DestApp=WOSTest
النص الكامل