المؤلفون: Matthews, Harold S, Palmer, Richard L, Baynam, Gareth S, Quarrell, Oliver W, Klein, Ophir D, Spritz, Richard A, Hennekam, Raoul C, Walsh, Susan, Shriver, Mark, Weinberg, Seth M, Hallgrimsson, Benedikt, Hammond, Peter, Penington, Anthony J, Peeters, Hilde, Claes, Peter D

المصدر: Scientific reports. 11(1)

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8h30144v

المؤلفون: Loong, Lucy, Tardivo, Agostina, Knaus, Alexej, Hashim, Mona, Pagnamenta, Alistair T, Alt, Kerstin, Böhrer-Rabel, Helena, Caro-Llopis, Alfonso, Cole, Trevor, Distelmaier, Felix, Edery, Patrick, Ferreira, Carlos R, Jezela-Stanek, Aleksandra, Kerr, Bronwyn, Kluger, Gerhard, Krawitz, Peter M, Kuhn, Marius, Lemke, Johannes R, Lesca, Gaetan, Lynch, Sally Ann, Martinez, Francisco, Maxton, Caroline, Mierzewska, Hanna, Monfort, Sandra, Nicolai, Joost, Orellana, Carmen, Pal, Deb K, Płoski, Rafał, Quarrell, Oliver W, Rosello, Monica, Rydzanicz, Małgorzata, Sabir, Ataf, Śmigiel, Robert, Stegmann, Alexander P A, Stewart, Helen, Stumpel, Constance, Szczepanik, Elżbieta, Tzschach, Andreas, Wolfe, Lynne, Taylor, Jenny C, Murakami, Yoshiko, Kinoshita, Taroh, Bayat, Allan, Kini, Usha

المصدر: Loong , L , Tardivo , A , Knaus , A , Hashim , M , Pagnamenta , A T , Alt , K , Böhrer-Rabel , H , Caro-Llopis , A , Cole , T , Distelmaier , F , Edery , P , Ferreira , C R , Jezela-Stanek , A , Kerr , B , Kluger , G , Krawitz , P M , Kuhn , M , Lemke , J R , Lesca , G , Lynch , S A , Martinez , F , Maxton , C , Mierzewska , H , Monfort , ....

Relation: https://cris.maastrichtuniversity.nl/en/publications/0865c15c-1733-4b9c-81a1-56294ecd0a71

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/0865c15c-1733-4b9c-81a1-56294ecd0a71
https://doi.org/10.1016/j.gim.2022.09.007

المؤلفون: Strong, Mark, Quarrell, Oliver W.

المصدر: Movement Disorders ; volume 38, issue 8, page 1570-1572 ; ISSN 0885-3185 1531-8257

الاتاحة: http://dx.doi.org/10.1002/mds.29532

المؤلفون: Lord, Jenny, McMullan, Dominic J., Eberhardt, Ruth Y., Rinck, Gabriele, Hamilton, Susan J., Quinlan-Jones, Elizabeth, Prigmore, Elena, Keelagher, Rebecca, Best, Sunayna K., Carey, Georgina K., Mellis, Rhiannon, Robart, Sarah, Berry, Ian R., Chandler, Kate E., Cilliers, Deirdre, Cresswell, Lara, Edwards, Sandra L., Gardiner, Carol, Henderson, Alex, Holden, Simon T., Homfray, Tessa, Lester, Tracy, Lewis, Rebecca, Newbury-Ecob, Ruth, Prescott, Katrina, Quarrell, Oliver W., Ramsden, Simon C., Roberts, Eileen, Tapon, Dagmar, Tooley, Madeleine J., Vasudevan, Pradeep C., Weber, Astrid P., Wellesley, Diana G., Westwood, Paul, White, Helen, Parker, Michael, Williams, Denise, Jenkins, Lucy, Scott, Richard H., Kilby, Mark D., Chitty, Lyn S., Hurles, Matthew E., Maher, Eamonn R., Bateman, Mark, Campbell, Carolyn, Campbell, Jenni, Carey, Georgina, Cohen, Kelly, Taylor, Emma J.

وصف الملف: text

Relation: https://eprints.soton.ac.uk/429600/1/Prenatal_exome_sequencing.pdf; Lord, Jenny, McMullan, Dominic J. and Eberhardt, Ruth Y. , et al. and Prenatal Assessment of Genomes and Exomes Consortium (2019) Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study. The Lancet, 393 (10173), 747-757. (doi:10.1016/S0140-6736(18)31940-8 ).

الاتاحة: https://eprints.soton.ac.uk/429600/
https://eprints.soton.ac.uk/429600/1/Prenatal_exome_sequencing.pdf

المؤلفون: Rautengarten, Carsten, Quarrell, Oliver W, Stals, Karen, Caswell, Richard C, De Franco, Elisa, Baple, Emma, Burgess, Nadia, Jokhi, Roobin, Heazlewood, Joshua L, Offiah, Amaka C, Ebert, Berit, Ellard, Sian

المساهمون: Australian Research Council, Mizutani Foundation for Glycoscience, National Science Foundation, Wellcome Trust

المصدر: Human Molecular Genetics ; volume 28, issue 21, page 3543-3551 ; ISSN 0964-6906 1460-2083

الاتاحة: http://dx.doi.org/10.1093/hmg/ddz200
http://academic.oup.com/hmg/advance-article-pdf/doi/10.1093/hmg/ddz200/30250913/ddz200.pdf
http://academic.oup.com/hmg/article-pdf/28/21/3543/31606387/ddz200.pdf

المؤلفون: Quarrell, Oliver W., Clarke, Angus J., Compton, Cecilia, de Die-Smulders, Christine E. M., Fryer, Alan, Jenkins, Sian, Lahiri, Nayana, MacLeod, Rhona, Miedzybrodzka, Zosia, Morrison, Patrick J., Musgrave, Hannah, O'Driscoll, Mary, Strong, Mark, van Belzen, Martine J., Vermeer, Sascha, Verschuuren-Bemelmans, Corien C., Bijlsma, Emilia K.

المصدر: Quarrell , O W , Clarke , A J , Compton , C , de Die-Smulders , C E M , Fryer , A , Jenkins , S , Lahiri , N , MacLeod , R , Miedzybrodzka , Z , Morrison , P J , Musgrave , H , O'Driscoll , M , Strong , M , van Belzen , M J , Vermeer , S , Verschuuren-Bemelmans , C C & Bijlsma , E K 2018 , ' Predictive testing of minors for Huntington's disease : The UK and Netherlands experiences ' , American Journal of Medical ....

مصطلحات موضوعية: CAG, children, genetic tests, teenagers, ONSET CONDITIONS, ADOLESCENTS, STATEMENT

Relation: https://research.rug.nl/en/publications/a0a1860a-8b0b-455a-949b-5ae7ef1b5af0

الاتاحة: https://hdl.handle.net/11370/a0a1860a-8b0b-455a-949b-5ae7ef1b5af0
https://research.rug.nl/en/publications/a0a1860a-8b0b-455a-949b-5ae7ef1b5af0
https://doi.org/10.1002/ajmg.b.32582
http://eprints.whiterose.ac.uk/119790/10/am%20j%20Med%20genet%20reply%20to%20reviewers%20%20comments%20july%202017-AC-CV%20-OQ%20Aug%202017.pdf

المؤلفون: Baig, Sheharyar S, Strong, Mark, Rosser, Elisabeth, Taverner, Nicola V, Glew, Ruth, Miedzybrodzka, Zosia, Clarke, Angus, Craufurd, David, Quarrell, Oliver W

المصدر: European Journal of Human Genetics ; volume 24, issue 10, page 1396-1402 ; ISSN 1018-4813 1476-5438

الاتاحة: http://dx.doi.org/10.1038/ejhg.2016.36
http://www.nature.com/articles/ejhg201636.pdf
http://www.nature.com/articles/ejhg201636

المؤلفون: Quarrell, Oliver W. J.

المصدر: Oxford Medicine Online

الاتاحة: https://doi.org/10.1093/med/9780199929146.003.0004

المؤلفون: Li, Yun, Laue, Kathrin, Temtamy, Samia, Aglan, Mona, Kotan, L. Damla, Yigit, Gökhan, Canan, Husniye, Pawlik, Barbara, Nürnberg, Gudrun, Wakeling, Emma L., Quarrell, Oliver W., Baessmann, Ingelore, Lanktree, Matthew B., Yilmaz, Mustafa, Hegele, Robert A., Amr, Khalda, May, Klaus W., Nürnberg, Peter, Topaloglu, A. Kemal, Hammerschmidt, Matthias, Wollnik, Bernd

المساهمون: Li, Yun, Laue, Kathrin, Temtamy, Samia, Aglan, Mona, Kotan, L. Damla, Yigit, Gökhan, Canan, Husniye, Pawlik, Barbara, Nürnberg, Gudrun, Wakeling, Emma L., Quarrell, Oliver W., Baessmann, Ingelore, Lanktree, Matthew B., Yilmaz, Mustafa, Hegele, Robert A., Amr, Khalda, May, Klaus W., Nürnberg, Peter, Topaloglu, A. Kemal, Hammerschmidt, Matthias, Wollnik, Bernd

Relation: https://resolver.sub.uni-goettingen.de/purl?gro-2/264; 000285564600002; 3142818

الاتاحة: https://resolver.sub.uni-goettingen.de/purl?gro-2/264
https://doi.org/10.1016/j.ajhg.2010.10.003

المؤلفون: Quarrell, Oliver W. J., Nance, Martha

المصدر: Juvenile Huntington's Disease ; page 136-149

الاتاحة: https://doi.org/10.1093/med/9780199236121.003.0009

المؤلفون: Matthews, Harold S., Palmer, Richard L., Baynam, Gareth, Quarrell, Oliver W., Klein, Ophir D., Spirtz, Richard A., Hennekam, Raoul C., Walsh, Susan, Shriver, Mark, Weinberg, Seth M., Hallgrimsson, Benedikt, Hammond, Peter, Penington, Anthony J., Peeters, Hilde, Claes, Peter D.

المصدر: Medical Papers and Journal Articles

مصطلحات موضوعية: Biomedical engineering, Diagnostic markers, Software, Statistical methods, Medical Sciences, Medicine and Health Sciences

Relation: https://researchonline.nd.edu.au/med_article/1257

الاتاحة: https://researchonline.nd.edu.au/med_article/1257

المؤلفون: Quarrell, Oliver W, Handley, Olivia, O'Donovan, Kirsty, Dumoulin, Christine, Ramos-Arroyo, Maria, Biunno, Ida, Bauer, Peter, Kline, Margaret, Landwehrmeyer, G Bernhard

المصدر: European Journal of Human Genetics ; volume 20, issue 1, page 20-26 ; ISSN 1018-4813 1476-5438

الاتاحة: http://dx.doi.org/10.1038/ejhg.2011.136
http://www.nature.com/articles/ejhg2011136.pdf
http://www.nature.com/articles/ejhg2011136

المؤلفون: Hannes, Femke, Van Houdt, Jeroen, Quarrell, Oliver W., Poot, Martin, Hochstenbach, Ron, Fryns, Jean-Pierre, Vermeesch, Joris Robert

المساهمون: Center for Human Genetics, Catholic University of Leuven - Katholieke Universiteit Leuven (KU Leuven), Sheffield Children's NHS Foundation Trust, University Medical Center Utrecht, Centre of Human Genetics, University Hospitals Leuven Leuven

المصدر: ISSN: 1059-7794.

مصطلحات موضوعية: Life Sciences

Relation: hal-00593433; https://hal.archives-ouvertes.fr/hal-00593433; https://hal.archives-ouvertes.fr/hal-00593433/document; https://hal.archives-ouvertes.fr/hal-00593433/file/PEER_stage2_10.1002%252Fhumu.21368.pdf

الاتاحة: https://hal.archives-ouvertes.fr/hal-00593433
https://hal.archives-ouvertes.fr/hal-00593433/document
https://hal.archives-ouvertes.fr/hal-00593433/file/PEER_stage2_10.1002%252Fhumu.21368.pdf
https://doi.org/10.1002/humu.21368

المؤلفون: Loong, Lucy, Tardivo, Agostina, Knaus, Alexej, Hashim, Mona, Pagnamenta, Alistair T., Alt, Kerstin, Böhrer-Rabel, Helena, Caro-Llopis, Alfonso, Cole, Trevor, Distelmaier, Felix, Edery, Patrick, Ferreira, Carlos R., Jezela-Stanek, Aleksandra, Kerr, Bronwyn, Kluger, Gerhard, Krawitz, Peter M., Kuhn, Marius, Lemke, Johannes R., Lesca, Gaetan, Lynch, Sally Ann, Martinez, Francisco, Maxton, Caroline, Mierzewska, Hanna, Monfort, Sandra, Nicolai, Joost, Orellana, Carmen, Pal, Deb K., Płoski, Rafał, Quarrell, Oliver W., Rosello, Monica, Rydzanicz, Małgorzata, Sabir, Ataf, Śmigiel, Robert, Stegmann, Alexander P.A., Stewart, Helen, Stumpel, Constance, Szczepanik, Elżbieta, Tzschach, Andreas, Wolfe, Lynne, Taylor, Jenny C., Murakami, Yoshiko, Kinoshita, Taroh, Bayat, Allan, Kini, Usha

المصدر: Genetics in Medicine; January 2023, Vol. 25 Issue: 1 p37-48, 12p

المؤلفون: Rylance, Kate, Quarrell, Oliver W J, Vasudevan, Pradeep C

مصطلحات موضوعية: STUDENT

وصف الملف: text/html

Relation: http://www.bmj.com/cgi/content/short/334/Suppl_S2/070249; http://dx.doi.org/10.1136/sbmj.070249

الاتاحة: http://www.bmj.com/cgi/content/short/334/Suppl_S2/070249
https://doi.org/10.1136/sbmj.070249

المؤلفون: Quarrell, Oliver W J, Rigby, Alan S, Barron, L, Crow, Y, Dalton, A, Dennis, N, Fryer, A E, Heydon, F, Kinning, E, Lashwood, A, Losekoot, M, Margerison, L, McDonnell, S, Morrison, P J, Norman, A, Peterson, M, Raymond, F L, Simpson, S, Thompson, E, Warner, J

مصطلحات موضوعية: Electronic letters

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/44/3/e68; http://dx.doi.org/10.1136/jmg.2006.045120

الاتاحة: http://jmg.bmj.com/cgi/content/short/44/3/e68
https://doi.org/10.1136/jmg.2006.045120

المؤلفون: Vasudevan, Pradeep C, Twigg, Stephen R F, Mulliken, John B, Cook, Jackie A, Quarrell, Oliver W J, Wilkie, Andrew O M

المصدر: European Journal of Human Genetics ; volume 14, issue 7, page 884-887 ; ISSN 1018-4813 1476-5438

الاتاحة: http://dx.doi.org/10.1038/sj.ejhg.5201633
http://www.nature.com/articles/5201633.pdf
http://www.nature.com/articles/5201633

المؤلفون: Clarke, Angus, Richards, Martin, Kerzin-Storrar, Lauren, Halliday, Jane, Young, Mary Anne, Simpson, Sheila A, Featherstone, Katie, Forrest, Karen, Lucassen, Anneke, Morrison, Patrick J, Quarrell, Oliver W J, Stewart, Helen

المصدر: European Journal of Human Genetics ; volume 13, issue 5, page 556-562 ; ISSN 1018-4813 1476-5438

الاتاحة: http://dx.doi.org/10.1038/sj.ejhg.5201394
http://www.nature.com/articles/5201394.pdf
http://www.nature.com/articles/5201394

المؤلفون: Gissen, Paul, Johnson, Colin A, Morgan, Neil V, Stapelbroek, Janneke M, Forshew, Tim, Cooper, Wendy N, McKiernan, Patrick J, Klomp, Leo W J, Morris, Andrew A M, Wraith, James E, McClean, Patricia, Lynch, Sally A, Thompson, Richard J, Lo, Bryan, Quarrell, Oliver W, Di Rocco, Maja, Trembath, Richard C, Mandel, Hanna, Wali, S, Karet, Fiona E, Knisely, A S, Houwen, Roderick H J, Kelly, Deirdre A, Maher, Eamonn R

المصدر: Nature Genetics ; volume 36, issue 4, page 400-404 ; ISSN 1061-4036 1546-1718

الاتاحة: http://dx.doi.org/10.1038/ng1325
http://www.nature.com/articles/ng1325.pdf
http://www.nature.com/articles/ng1325

المؤلفون: Quarrell, Oliver W J, Nance, Martha A, Nopoulos, Peg, Reilmann, Ralf, Oosterloo, Mayke, Tabrizi, Sarah J, Furby, Hannah, Saft, Carsten, Roos, Raymund A C, Squitieri, Ferdinando, Landwehrmeyer, G Bernhard, Burgunder, Jean-Marc

المساهمون: Klinische Neurowetenschappen, MUMC+: MA Med Staf Spec Neurologie (9), RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience

المصدر: Movement Disorders, 34(4), 584-585. Wiley

مصطلحات موضوعية: 610 Medicine & health

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::770808c9145ae6b473082eef169af851
https://cris.maastrichtuniversity.nl/en/publications/424bad07-d2a5-4889-b525-916f234a7dcc