المؤلفون: Cipriani, Valentina, Tierney, Anna, Griffiths, John R., Zuber, Verena, Sergouniotis, Panagiotis I., Yates, John R.W., Moore, Anthony T., Bishop, Paul N., Clark, Simon J., Unwin, Richard D.

المصدر: The American Journal of Human Genetics ; volume 108, issue 8, page 1385-1400 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2021.05.015
https://api.elsevier.com/content/article/PII:S0002929721002202?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929721002202?httpAccept=text/plain

المؤلفون: Tye, Charlotte, Thomas, Laura E., Sampson, Julian R., Lewis, Juli, O'Callaghan, Finbar, Yates, John R.W., Bolton, Patrick F.

وصف الملف: application/pdf

Relation: https://orca.cardiff.ac.uk/id/eprint/110305/3/Secular%20Changes%20in%20Severity%20of%20Intellectual%20Disability%20in%20Tuberous%20Sclerosis%20Complex%20A%20Reflection%20of%20Improved%20Identification%20and%20Treatment%20of%20Epileptic%20Spasms.pdf; Tye, Charlotte, Thomas, Laura E. https://orca.cardiff.ac.uk/view/cardiffauthors/A129509I.html orcid:0000-0002-8621-5285 orcid:0000-0002-8621-5285, Sampson, Julian R. https://orca.cardiff.ac.uk/view/cardiffauthors/A0160820.html orcid:0000-0002-2902-2348 orcid:0000-0002-2902-2348, Lewis, Juli, O'Callaghan, Finbar, Yates, John R.W. and Bolton, Patrick F. 2018. Secular changes in severity of intellectual disability in tuberous sclerosis complex: A reflection of improved identification and treatment of epileptic spasms? Epilepsia Open 3 (2) , pp. 276-280. 10.1002/epi4.12111 https://doi.org/10.1002/epi4.12111 file https://orca.cardiff.ac.uk/id/eprint/110305/3/Secular%20Changes%20in%20Severity%20of%20Intellectual%20Disability%20in%20Tuberous%20Sclerosis%20Complex%20A%20Reflection%20of%20Improved%20Identification%20and%20Treatment%20of%20Epileptic%20Spasms.pdf

الاتاحة: https://orca.cardiff.ac.uk/id/eprint/110305/
https://doi.org/10.1002/epi4.12111
https://orca.cardiff.ac.uk/id/eprint/110305/3/Secular%20Changes%20in%20Severity%20of%20Intellectual%20Disability%20in%20Tuberous%20Sclerosis%20Complex%20A%20Reflection%20of%20Improved%20Identification%20and%20Treatment%20of%20Epileptic%20Spasms.pdf

المؤلفون: Humphrey, Ayla, MacLean, Cathy, Ploubidis, George B., Granader, Yael, Clifford, Michelle, Haslop, Maisy, Neville, Brian G.R., Yates, John R.W., Bolton, Patrick F.

المساهمون: Tuberous Sclerosis Association, The Isaac Newton Trust, UK National Institute of Health Research (NIHR) Biomedical Research Centre for Mental Health at the Institute of Psychiatry, Kings College London, The South London and Maudsley NHS Foundation Trust, NIHR Senior Investigators Award

المصدر: Epilepsia ; volume 55, issue 1, page 108-116 ; ISSN 0013-9580 1528-1167

الاتاحة: http://dx.doi.org/10.1111/epi.12484
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fepi.12484
https://onlinelibrary.wiley.com/doi/pdf/10.1111/epi.12484

المؤلفون: Ansari, Morad, Mckeigue, Paul M., Skerka, Christine, Hayward, Caroline, Rudan, Igor, Vitart, Veronique, Polasek, Ozren, Armbrecht, Ana-Maria, Yates, John R.W., Vatavuk, Zoran, Bencic, Goran, Kolcic, Ivana, Oostra, Ben A., Van Duijn, Cornelia M., Campbell, Susan, Stanton, Chloe M., Huffman, Jennifer, Shu, Xinhua, Khan, Jane C., Shahid, Humma, Harding, Simon P., Bishop, Paul N., Deary, Ian J., Moore, Anthony T., Dhillon, Baljean, Rudan, Pavao, Zipfel, Peter F., Sim, Robert B., Hastie, Nicholas D., Campbell, Harry, Wright, Alan F.

المصدر: Human Molecular Genetics ; volume 22, issue 23, page 4857-4869 ; ISSN 1460-2083 0964-6906

الاتاحة: http://dx.doi.org/10.1093/hmg/ddt336
http://academic.oup.com/hmg/article-pdf/22/23/4857/14139965/ddt336.pdf

المؤلفون: Cipriani, Valentina, Leung, Hin-Tak, Plagnol, Vincent, Bunce, Catey, Khan, Jane C., Shahid, Humma, Moore, Anthony T., Harding, Simon P., Bishop, Paul N., Hayward, Caroline, Campbell, Susan, Armbrecht, Ana Maria, Dhillon, Baljean, Deary, Ian J., Campbell, Harry, Dunlop, Malcolm, Dominiczak, Anna F., Mann, Samantha S., Jenkins, Sharon A., Webster, Andrew R., Bird, Alan C., Lathrop, Mark, Zelenika, Diana, Souied, Eric H., Sahel, José-Alain, Léveillard, Thierry, French AMD Investigators, Cree, Angela J., Gibson, Jane, Ennis, Sarah, Lotery, Andrew J., Wright, Alan F., Clayton, David G., Yates, John R.W.

مصطلحات موضوعية: Article

وصف الملف: text/html

Relation: http://hmg.oxfordjournals.org/cgi/content/short/dds225v2; http://dx.doi.org/10.1093/hmg/dds225

الاتاحة: http://hmg.oxfordjournals.org/cgi/content/short/dds225v2
https://doi.org/10.1093/hmg/dds225

المؤلفون: Cipriani, Valentina, Matharu, Baljinder K., Khan, Jane C., Shahid, Humma, Stanton, Chloe M., Hayward, Caroline, Wright, Alan F., Bunce, Catey, Clayton, David G., Moore, Anthony T., Yates, John R.W.

المساهمون: Medical Research Council, United Kingdom, Macular Disease Society, Guide Dogs for the Blind Association, Wellcome Trust, Juvenile Diabetes Research Foundation, Macula Vision Research Foundation, Chief Scientist Office, Scotland, Moorfields Eye Hospital, UCL Institute of Ophthalmology

المصدر: Immunobiology ; volume 217, issue 2, page 158-161 ; ISSN 0171-2985

الاتاحة: http://dx.doi.org/10.1016/j.imbio.2011.09.002
https://api.elsevier.com/content/article/PII:S0171298511002026?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0171298511002026?httpAccept=text/plain

المؤلفون: Kent, Lindsey, Emerton, Jane, Bhadravathi, Vishu, Weisblatt, Emma, Pasco, Greg, Willatt, Lionel R, McMahon, Robert, Yates, John R.W.

مصطلحات موضوعية: Original articles

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/jmg.2008.057729v1; http://dx.doi.org/10.1136/jmg.2008.057729

الاتاحة: http://jmg.bmj.com/cgi/content/short/jmg.2008.057729v1
https://doi.org/10.1136/jmg.2008.057729

المؤلفون: van Bokhoven, Hans, Hamel, Ben C.J., Bamshad, Mike, Sangiorgi, Eugenio, Gurrieri, Fiorella, Duijf, Pascal H.G., Vanmolkot, Kaate R.J., van Beusekom, Ellen, van Beersum, Sylvia E.C., Celli, Jacopo, Merkx, Gerard F.M., Tenconi, Romano, Fryns, Jean Pierre, Verloes, Alain, Newbury-Ecob, Ruth A., Raas-Rotschild, Annick, Majewski, Frank, Beemer, Frits A., Janecke, Andreas, Chitayat, David, Crisponi, Giangiorgio, Kayserili, H�lya, Yates, John R.W., Neri, Giovanni, Brunner, Han G.

المصدر: American Journal of Human Genetics

وصف الملف: application/pdf

Relation: https://eprints.qut.edu.au/134318/1/134318.pdf; van Bokhoven, Hans, Hamel, Ben C.J., Bamshad, Mike, Sangiorgi, Eugenio, Gurrieri, Fiorella, Duijf, Pascal H.G., Vanmolkot, Kaate R.J., van Beusekom, Ellen, van Beersum, Sylvia E.C., Celli, Jacopo, Merkx, Gerard F.M., Tenconi, Romano, Fryns, Jean Pierre, Verloes, Alain, Newbury-Ecob, Ruth A., Raas-Rotschild, Annick, Majewski, Frank, Beemer, Frits A., Janecke, Andreas, Chitayat, David, Crisponi, Giangiorgio, Kayserili, H�lya, Yates, John R.W., Neri, Giovanni, & Brunner, Han G. (2001) p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand–split foot malformation suggest a genotype-phenotype correlation. American Journal of Human Genetics, 69(3), pp. 481-492.; https://eprints.qut.edu.au/134318/; Faculty of Health; School of Biomedical Sciences

الاتاحة: https://eprints.qut.edu.au/134318/

المؤلفون: Grayson, Celene, Reid, Silvia N.M., Ellis, Juliet A., Rutherford, Adam, Sowden, Jane C., Yates, John R.W., Farber, Debora B., Trump, Dorothy

مصطلحات موضوعية: REPORTS

وصف الملف: text/html

Relation: http://hmg.oxfordjournals.org/cgi/content/short/9/12/1873; http://dx.doi.org/10.1093/hmg/9.12.1873

الاتاحة: http://hmg.oxfordjournals.org/cgi/content/short/9/12/1873
https://doi.org/10.1093/hmg/9.12.1873

المؤلفون: Richards, Allan J., Baguley, David M., Yates, John R.W., Lane, Carol, Nicol, Mary, Harper, Peter S., Scott, John D., Snead, Martin P.

المصدر: The American Journal of Human Genetics ; volume 67, issue 5, page 1083-1094 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/s0002-9297(07)62938-3
https://api.elsevier.com/content/article/PII:S0002929707629383?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929707629383?httpAccept=text/plain

المؤلفون: van Bakel, Inge, Sepp, Tiina, Ward, Susannah, Yates, John R.W., Green, Andrew J.

مصطلحات موضوعية: Articles

وصف الملف: text/html

Relation: http://hmg.oxfordjournals.org/cgi/content/short/6/9/1409; http://dx.doi.org/10.1093/hmg/6.9.1409

الاتاحة: http://hmg.oxfordjournals.org/cgi/content/short/6/9/1409
https://doi.org/10.1093/hmg/6.9.1409

المؤلفون: Yates, John R.W., van Bakel, Inge, Sepp, Tiina, Payne, Stewart J., Webb, David W., Nevin, Norman C., Green, Andrew J.

مصطلحات موضوعية: Articles

وصف الملف: text/html

Relation: http://hmg.oxfordjournals.org/cgi/content/short/6/13/2265; http://dx.doi.org/10.1093/hmg/6.13.2265

الاتاحة: http://hmg.oxfordjournals.org/cgi/content/short/6/13/2265
https://doi.org/10.1093/hmg/6.13.2265

المؤلفون: Burrows, Nigel P., Nicholls, Alan C., Yates, John R.W., Gatward, Graham, Sarathachandra, Padmini, Richards, Allan, Pope, F. Michael

المصدر: Journal of Investigative Dermatology ; volume 106, issue 6, page 1273-1276 ; ISSN 0022-202X

الاتاحة: http://dx.doi.org/10.1111/1523-1747.ep12348978
https://api.elsevier.com/content/article/PII:S0022202X15425989?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0022202X15425989?httpAccept=text/plain

المؤلفون: Schiaffino, M.Vittoria, Bassi, Maria T., Galli, Lucia, Renieri, Alessandra, Bruttini, Mirella, Nigris, Filomena De, Bergen, Arthur A.B., Charles, Stephen J., Yates, John R.W., Meindl, Alfons, Lewis, Richard A., King, Richard A., Ballabio, Andrea

مصطلحات موضوعية: REPORTS

وصف الملف: text/html

Relation: http://hmg.oxfordjournals.org/cgi/content/short/4/12/2319; http://dx.doi.org/10.1093/hmg/4.12.2319

الاتاحة: http://hmg.oxfordjournals.org/cgi/content/short/4/12/2319
https://doi.org/10.1093/hmg/4.12.2319

المؤلفون: Klauck, Sabine M., Wllgenbus, Petra, Yates, John R.W., Müller, Clemens R., Poustka, Annemarie

مصطلحات موضوعية: REPORTS

وصف الملف: text/html

Relation: http://hmg.oxfordjournals.org/cgi/content/short/4/10/1853; http://dx.doi.org/10.1093/hmg/4.10.1853

الاتاحة: http://hmg.oxfordjournals.org/cgi/content/short/4/10/1853
https://doi.org/10.1093/hmg/4.10.1853

المؤلفون: Blone, Silvia, Small, Kersten, Aksmanovic, Veronica M.A., D'Urso, Michele, Ciccodicola, Alfredo, Merlini, Luciano, Morandi, Lucia, Kress, Wolfram, Yates, John R.W., Warren, Steve T., Toniolo, Daniela

مصطلحات موضوعية: REPORTS

وصف الملف: text/html

Relation: http://hmg.oxfordjournals.org/cgi/content/short/4/10/1859; http://dx.doi.org/10.1093/hmg/4.10.1859

الاتاحة: http://hmg.oxfordjournals.org/cgi/content/short/4/10/1859
https://doi.org/10.1093/hmg/4.10.1859

المؤلفون: Bassi, Maria T., Bergen, Arthur A.B., Wapenaar, Martin C., Schlaffino, Maria V., van Schooneveld, Mary, Yates, John R.W., Charles, Stephen J., Meltinger, Thomas, Ballabio, Andrea

مصطلحات موضوعية: MUTATION REPORTS

وصف الملف: text/html

Relation: http://hmg.oxfordjournals.org/cgi/content/short/3/4/647; http://dx.doi.org/10.1093/hmg/3.4.647

الاتاحة: http://hmg.oxfordjournals.org/cgi/content/short/3/4/647
https://doi.org/10.1093/hmg/3.4.647

المؤلفون: Rogner, Ute C., Kioschis, Petra, Wilke, Klaus, Gong, Wellong, Pick, Elke, Dietrich, Alexander, Zechner, Ulrich, Hameister, Horst, Pragllola, Antonella, Herman, Gail E., Yates, John R.W., Lehrach, Hans, Poustka, Annemarie

مصطلحات موضوعية: ARTICLES

وصف الملف: text/html

Relation: http://hmg.oxfordjournals.org/cgi/content/short/3/12/2137; http://dx.doi.org/10.1093/hmg/3.12.2137

الاتاحة: http://hmg.oxfordjournals.org/cgi/content/short/3/12/2137
https://doi.org/10.1093/hmg/3.12.2137

المؤلفون: Green, Andrew J., Johnson, Philip H., Yates, John R.W.

مصطلحات موضوعية: REPORTS

وصف الملف: text/html

Relation: http://hmg.oxfordjournals.org/cgi/content/short/3/10/1833; http://dx.doi.org/10.1093/hmg/3.10.1833

الاتاحة: http://hmg.oxfordjournals.org/cgi/content/short/3/10/1833
https://doi.org/10.1093/hmg/3.10.1833