المؤلفون: Cordell, Heather J., Töpf, Ana, Mamasoula, Chrysovalanto, Postma, Alex V., Bentham, Jamie, Zelenika, Diana, Heath, Simon, Blue, Gillian, Cosgrove, Catherine, Granados Riveron, Javier, Darlay, Rebecca, Soemedi, Rachel, Wilson, Ian J., Ayers, Kristin L., Rahman, Thahira J., Hall, Darroch, Mulder, Barbara J.M., Zwinderman, Aelko H., van Engelen, Klaartje, Brook, J. David, Setchfield, Kerry, Bu'Lock, Frances A., Thornborough, Chris, O'Sullivan, John, Stuart, A. Graham, Parsons, Jonathan, Bhattacharya, Shoumo, Winlaw, David, Mital, Seema, Gewillig, Marc, Breckpot, Jeroen, Devriendt, Koen, Moorman, Antoon F.M., Rauch, Anita, Lathrop, G. Mark, Keavney, Bernard D., Goodship, Judith A.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od_______805::1aecbbcc26c07375ee1c2daaa5c8ba22
http://doc.rero.ch/record/296048/files/dds552.pdf

المؤلفون: Sifrim, Alejandro, Hitz, Marc-Phillip, Wilsdon, Anna, Breckpot, Jeroen, Turki, Saeed H Al, Thienpont, Bernard, McRae, Jeremy, Fitzgerald, Tomas W, Singh, Tarjinder, Swaminathan, Ganesh Jawahar, Prigmore, Elena, Rajan, Diana, Abdul-Khaliq, Hashim, Banka, Siddharth, Bauer, Ulrike MM, Bentham, Jamie, Berger, Felix, Bhattacharya, Shoumo, Bu'Lock, Frances, Canham, Natalie, Colgiu, Irina-Gabriela, Cosgrove, Catherine, Cox, Helen, Daehnert, Ingo, Daly, Allan, Danesh, John, Fryer, Alan, Gewillig, Marc, Hobson, Emma, Hoff, Kirstin, Homfray, Tessa, INTERVAL Study, Kahlert, Anne-Karin, Ketley, Ami, Kramer, Hans-Heiner, Lachlan, Katherine, Lampe, Anne Katrin, Louw, Jacoba J, Manickara, Ashok Kumar, Manase, Dorin, McCarthy, Karen P, Metcalfe, Kay, Moore, Carmel, Newbury-Ecob, Ruth, Omer, Seham Osman, Ouwehand, Willem H, Park, Soo-Mi, Parker, Michael J, Pickardt, Thomas, Pollard, Martin O, Robert, Leema, Roberts, David J, Sambrook, Jennifer, Setchfield, Kerry, Stiller, Brigitte, Thornborough, Chris, Toka, Okan, Watkins, Hugh, Williams, Denise, Wright, Michael, Mital, Seema, Daubeney, Piers EF, Keavney, Bernard, Goodship, Judith, UK10K Consortium, Abu-Sulaiman, Riyadh Mahdi, Klaassen, Sabine, Wright, Caroline F, Firth, Helen V, Barrett, Jeffrey C, Devriendt, Koenraad, FitzPatrick, David R, Brook, J David, Deciphering Developmental Disorders Study, Hurles, Matthew E

المساهمون: Sifrim, Alejandro [0000-0001-8247-4020], Thienpont, Bernard [0000-0002-8772-6845], Banka, Siddharth [0000-0002-8527-2210], Pollard, Martin O [0000-0001-8738-0920], Mital, Seema [0000-0002-7643-4484], Keavney, Bernard [0000-0001-9573-0812], Barrett, Jeffrey C [0000-0002-1152-370X], Apollo - University of Cambridge Repository

مصطلحات موضوعية: Heart Defects, Congenital, Male, Protein Conformation, Syndrome, Autoantigens, CDC2 Protein Kinase, Mutation, Humans, Exome, Female, cardiovascular diseases, Protein Kinase C, Mi-2 Nucleosome Remodeling and Deacetylase Complex, Sequence Deletion

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af0d31d8fa27677ec04d01f305c8240e
https://www.repository.cam.ac.uk/handle/1810/269425

المؤلفون: Cordell, Heather J, Bentham, Jamie, Topf, Ana, Zelenika, Diana, Heath, Simon, Mamasoula, Chrysovalanto, Cosgrove, Catherine, Blue, Gillian, Granados-Riveron, Javier, Setchfield, Kerry, Thornborough, Chris, Breckpot, Jeroen, Soemedi, Rachel, Martin, Ruairidh, Rahman, Thahira J, Hall, Darroch, van Engelen, Klaartje, Moorman, Antoon F, Zwinderman, Aelko H, Barnett, Phil, Koopmann, Tamara T, Adriaens, Michiel E, Varro, Andras, George, Alfred L, dos Remedios, Christobal, Bishopric, Nanette H, Bezzina, Connie R, O'Sullivan, John, Gewillig, Marc, Bu'Lock, Frances A, Winlaw, David, Bhattacharya, Shoumo, Devriendt, Koen, Brook, JD, Mulder, Barbara J, Mital, Seema, Postma, Alex V, Lathrop, GM, Farrall, Martin, Goodship, Judith A, Keavney, Bernard D

المساهمون: RS: FSE MaCSBio

المصدر: Nature Genetics, 45(7), 822-824. Nature Publishing Group

مصطلحات موضوعية: cardiovascular diseases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=narcis______::830cb320dfde4f868e0648f5a6dcbd5f
https://cris.maastrichtuniversity.nl/en/publications/c89bdd85-bac2-40bc-9d66-c760ffda9aa4

المؤلفون: Cordell, Heather J, Töpf, Ana, Mamasoula, Chrysovalanto, Postma, Alex V, Bentham, Jamie, Zelenika, Diana, Heath, Simon, Blue, Gillian, Cosgrove, Catherine, Granados Riveron, Javier, Darlay, Rebecca, Soemedi, Rachel, Wilson, Ian J, Ayers, Kristin L, Rahman, Thahira J, Hall, Darroch, Mulder, Barbara J M, Zwinderman, Aelko H, van Engelen, Klaartje, Brook, J David, Setchfield, Kerry, Bu'Lock, Frances A, Thornborough, Chris, O'Sullivan, John, Stuart, A Graham, Parsons, Jonathan, Bhattacharya, Shoumo, Winlaw, David, Mital, Seema, Gewillig, Marc, Breckpot, Jeroen, Devriendt, Koen, Moorman, Antoon F M, Rauch, Anita, Lathrop, G Mark, Keavney, Bernard D, Goodship, Judith A

المساهمون: University of Zurich, Keavney, Bernard D

مصطلحات موضوعية: 2716 Genetics (clinical), 1311 Genetics, 10039 Institute of Medical Genetics, 1312 Molecular Biology, 570 Life sciences, biology, 610 Medicine & health

وصف الملف: Cordell_HJ._et_al,_Genome-wide_association_study_identifies_loci.pdf - application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od_______885::e1e0aa74eea7ef6e043d15535fee31a9
https://doi.org/10.5167/uzh-88258

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المؤلفون: Sifrim, Alejandro, Hitz, Marc-Phillip, Wilsdon, Anna, Breckpot, Jeroen, Al Turki, Saeed H., Thienpont, Bernard, McRae, Jeremy, Fitzgerald, Tomas W, Singh, Tarjinder, Swaminathan, Ganesh Jawahar, Prigmore, Elena, Rajan, Diana, Abdul-Khaliq, Hashim, Banka, Siddharth, Bauer, Ulrike M. M., Bentham, Jamie, Berger, Felix, Bhattacharya, Shoumo, Bu'Lock, Frances, Canham, Natalie, Colgiu, Irina-Gabriela, Cosgrove, Catherine, Cox, Helen, Daehnert, Ingo, Daly, Allan, Danesh, John, Fryer, Alan, Gewillig, Marc, Hobson, Emma, Hoff, Kirstin, Homfray, Tessa, Kahlert, Anne-Karin, Ketley, Ami, Kramer, Hans-Heiner, Lachlan, Katherine, Lampe, Anne Katrin, Louw, Jacoba J., Manickara, Ashok Kumar, Manase, Dorin, McCarthy, Karen P., Metcalfe, Kay, Moore, Carmel, Newbury-Ecob, Ruth, Omer, Seham Osman, Ouwehand, Willem H., Park, Soo-Mi, Parker, Michael J., Pickardt, Thomas, Pollard, Martin O., Robert, Leema, Roberts, David J., Sambrook, Jennifer, Setchfield, Kerry, Stiller, Brigitte, Thornborough, Chris, Toka, Okan, Watkins, Hugh, Williams, Denise, Wright, Michael, Mital, Seema, Daubeney, Piers E. F., Keavney, Bernard, Goodship, Judith, Abu-Sulaiman, Riyadh Mahdi, Klaassen, Sabine, Wright, Caroline F., Firth, Helen V., Barrett, Jeffrey C., Devriendt, Koenraad, FitzPatrick, David R., Brook, J. David, Hurles, Matthew

المصدر: Sifrim, A., M. Hitz, A. Wilsdon, J. Breckpot, S. H. Al Turki, B. Thienpont, J. McRae, et al. 2018. “Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.” Nature genetics 48 (9): 1060-1065. doi:10.1038/ng.3627. http://dx.doi.org/10.1038/ng.3627.

Relation: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5988037/pdf/; Nature genetics

URL الوصول: http://nrs.harvard.edu/urn-3:HUL.InstRepos:37298210

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