المؤلفون: Guimier, A, Achleitner, MT, de Bellaing, AM, Edwards, M, de Pontual, L, Mittal, K, Dunn, KE, Grove, ME, Tysoe, CJ, Dimartino, C, Cameron, J, Kanthi, A, Shukla, A, van den Broek, F, Chatterjee, D, Alston, CL, Knowles, CV, Brett, L, Till, JA, Homfray, T, French, P, Spentzou, G, Elserafy, NA, Lichkus, KS, Sankaran, BP, Kennedy, HL, George, PM, Kidd, A, Wortmann, SB, Fisk, DG, Koopmann, TT, Rafiq, MA, Merker, JD, Parikh, S, Ahimaz, P, Weintraub, RG, Ma, AS, Turner, C, Ellaway, CJ, Phillips, LK, Thorburn, DR, Chung, WK, Kana, SL, Faye-Petersen, OM, Thompson, ML, Janin, A, McLeod, K, McGowan, R, McFarland, R, Girisha, KM, Morris-Rosendahl, DJ, Hurst, ACE, Turner, CLS, Hamilton, RM, Taylor, RW, Bajolle, F, Gordon, CT, Amiel, J, Mayr, JA, Doudney, K

Relation: pii: S1098-3600(21)05430-7; Guimier, A., Achleitner, M. T., de Bellaing, A. M., Edwards, M., de Pontual, L., Mittal, K., Dunn, K. E., Grove, M. E., Tysoe, C. J., Dimartino, C., Cameron, J., Kanthi, A., Shukla, A., van den Broek, F., Chatterjee, D., Alston, C. L., Knowles, C. V., Brett, L., Till, J. A. ,. Doudney, K. (2021). PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families. GENETICS IN MEDICINE, 23 (12), pp.2415-2425. https://doi.org/10.1038/s41436-021-01296-6.; http://hdl.handle.net/11343/301493

الاتاحة: http://hdl.handle.net/11343/301493

المؤلفون: Moreau De Bellaing, A., Guimier, A., Bajolle, F., Turner, C., Grove, M., Dunn, K., Katta, G., Crozier, I., Kidd, A., Mayr, J., Rotig, A., Di Rago, J.P., Delahodde, A., Lyonnet, S., Doudney, K., Kennedy, H., Amiel, J., Gordon, C., Bonnet, D.

المصدر: Archives of Cardiovascular Diseases Supplements ; volume 11, issue 1, page 134 ; ISSN 1878-6480

الاتاحة: http://dx.doi.org/10.1016/j.acvdsp.2018.10.296
https://api.elsevier.com/content/article/PII:S1878648018305512?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1878648018305512?httpAccept=text/plain

المؤلفون: Bellaing, A. Moreau de, Guimier, A., Bajolle, F., Turner, C., Grove, M., Dunn, K., Katta, G., Crozier, I., Kidd, A., Mayr, J., Rotig, A., Di Rago, JP., Delahodde, A., Lyonnet, S., Kennedy, H., Doudney, K., Amiel, J., Gordon, C., Bonnet, D.

المصدر: Archives of Cardiovascular Diseases Supplements ; volume 10, issue 3-4, page 282 ; ISSN 1878-6480

الاتاحة: http://dx.doi.org/10.1016/j.acvdsp.2018.06.021
https://api.elsevier.com/content/article/PII:S1878648018302143?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1878648018302143?httpAccept=text/plain

المؤلفون: Chua, E W, Cree, S, Barclay, M L, Doudney, K, Lehnert, K, Aitchison, A, Kennedy, M A

المصدر: The Pharmacogenomics Journal ; volume 15, issue 5, page 414-421 ; ISSN 1470-269X 1473-1150

الاتاحة: http://dx.doi.org/10.1038/tpj.2015.9
https://www.nature.com/articles/tpj20159.pdf
https://www.nature.com/articles/tpj20159

المؤلفون: Guimier, A., Achleitner, M.T., Bellaing, A. Moreau de, Edwards, M., Pontual, L. de, Mittal, K, Dunn, K.E., Grove, M.E., Tysoe, C.J., Dimartino, C., Cameron, J., Kanthi, A., Shukla, A., Broek, F. van den, Chatterjee, D., Alston, C.L., Knowles, C.V., Brett, L., Till, J.A., Homfray, T., French, P., Spentzou, G., Elserafy, N.A., Lichkus, K.S., Sankaran, B.P., Kennedy, H.L., George, P.M., Kidd, A., Wortmann, S.B., Fisk, D.G., Koopmann, T.T., Rafiq, M.A., Merker, J.D., Parikh, S., Ahimaz, P., Weintraub, R.G., Ma, A.S., Turner, C., Ellaway, C.J., Phillips, L.K., Thorburn, D.R., Chung, W.K., Kana, S.L., Faye-Petersen, O.M., Thompson, M.L., Janin, A., McLeod, K., McGowan, R., McFarland, R., Girisha, K.M., Morris-Rosendahl, D.J., Hurst, A.C.E., Turner, C.L., Hamilton, R.M., Taylor, R.W., Bajolle, F., Gordon, C.T., Amiel, J., Mayr, J.A., Doudney, K.

المصدر: Genetics in Medicine; 2415; 2425; 1098-3600; 12; 23; ~Genetics in Medicine~2415~2425~~~1098-3600~12~23~~

URL: https://repository.ubn.ru.nl/handle/2066/287939

المؤلفون: Dunlevy, L. P. E., Chitty, L. S., Burren, K. A., Doudney, K., Stojilkovic-Mikic, T., Stanier, P., Scott, R., Copp, A. J., Greene, N. D. E.

المصدر: Brain ; volume 130, issue 4, page 1043-1049 ; ISSN 0006-8950 1460-2156

الاتاحة: http://dx.doi.org/10.1093/brain/awm028
http://academic.oup.com/brain/article-pdf/130/4/1043/780272/awm028.pdf

المؤلفون: Marçano, A C B, Doudney, K, Braybrook, C, Squires, R, Patton, M A, Lees, M M, Richieri-Costa, A, Lidral, A C, Murray, J C, Moore, G E, Stanier, P

مصطلحات موضوعية: Letters to JMG

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/41/1/68; http://dx.doi.org/10.1136/jmg.2003.010868

الاتاحة: http://jmg.bmj.com/cgi/content/short/41/1/68
https://doi.org/10.1136/jmg.2003.010868

المؤلفون: Webb, S., Doudney, K., Pook, M., Chamberlain, S., Hutchinson, M.

المصدر: Journal of Neurology, Neurosurgery & Psychiatry ; volume 67, issue 2, page 217-219 ; ISSN 0022-3050

الاتاحة: http://dx.doi.org/10.1136/jnnp.67.2.217
https://syndication.highwire.org/content/doi/10.1136/jnnp.67.2.217

المؤلفون: Kennedy, H., Haack, T.B., Hartill, V.L., Matakovic, L., Baumgartner, E.R., Potter, H., Mackay, R., Alston, C.L., O'Sullivan, S., McFarland, R., Connolly, G., Gannon, C., King, R., Mead, S., Crozier, I., Chan, W., Florkowski, C.M., Sage, M., Höfken, T., Alhaddad, B., Kremer, L.S., Kopajtich, R., Feichtinger, R.G., Sperl, W., Rodenburg, R.J., Minet, J.C., Dobbie, A., Strom, T.M., Meitinger, T., George, P.M., Johnson, C.A., Taylor, R.W., Prokisch, H., Doudney, K., Mayr, J.A.

المصدر: Am. J. Hum. Genet. 99, 674-682 (2016)

Relation: info:eu-repo/semantics/altIdentifier/pmid/27523597; info:eu-repo/semantics/altIdentifier/wos/WOS:000383114800012; info:eu-repo/semantics/altIdentifier/isbn/0002-9297; info:eu-repo/semantics

الاتاحة: https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=49263
https://doi.org/10.1016/j.ajhg.2016.06.027

المؤلفون: Murdoch J, Quint E, Curtin J, Henderson D, Greene N, Arkell R, Bogani D, Gerrelli D, Doudney K, Paternotte C, Cattanach B, Nolan P, Spurr N, Fisher E, Stanier P, Gray I, Steel K, Brown S, Copp A

المصدر: Genetical Research: 14th Mammalian Genetics and Development Workshop of the Genetics Society, 3-4 December 2003

Relation: https://eprints.ncl.ac.uk/129527

الاتاحة: https://eprints.ncl.ac.uk/129527

المؤلفون: Doudney, K, Grinham, J, Whittaker, J, Lynch, SA, Thompson, D, Moore, GE, Copp, AJ, Greene, NDE, Stanier, P

Relation: Doudney, K; Grinham, J; Whittaker, J ; Lynch, SA; Thompson, D; Moore, GE; Copp, AJ; Greene, NDE; Stanier, P; (2009) Evaluation of folate metabolism gene polymorphisms as risk factors for open and closed neural tube defects. American journal of medical genetics Part A, 149A (7). pp. 1585-1589. ISSN 1552-4825 DOI: https://doi.org/10.1002/ajmg.a.32937

الاتاحة: https://researchonline.lshtm.ac.uk/id/eprint/5039/

المؤلفون: Doudney, K., Grinham, J., Whittaker, J., Lynch, S.A., Thompson, D., Moore, G.E., Copp, A.J., Greene, N.D.E., Stanier, P.

المصدر: American Journal of Medical Genetics Part A ; volume 149A, issue 7, page 1585-1589 ; ISSN 1552-4825 1552-4833

الاتاحة: http://dx.doi.org/10.1002/ajmg.a.32937
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.a.32937
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.32937

المؤلفون: Acevedo, A.C., da Fonseca, J.A.C., Grinham, J., Doudney, K., Gomes, R.R., de Paula, L.M., Stanier, P.

المصدر: Journal of Dental Research ; volume 89, issue 2, page 128-132 ; ISSN 0022-0345 1544-0591

الاتاحة: http://dx.doi.org/10.1177/0022034509356401
http://journals.sagepub.com/doi/pdf/10.1177/0022034509356401
http://journals.sagepub.com/doi/full-xml/10.1177/0022034509356401

المؤلفون: Doudney, K, Harley, JA, Pearson, JF, Miller, A, Aitchison, A, Kennedy, MA, Porter, RJ, Elmslie, JL, Joyce, PR

المصدر: Acta Neuropsychiatrica ; volume 21, issue 3, page 133-140 ; ISSN 0924-2708 1601-5215

الاتاحة: http://dx.doi.org/10.1111/j.1601-5215.2009.00379.x
https://www.cambridge.org/core/services/aop-cambridge-core/content/view/S0924270800001095

المؤلفون: Doudney, K., Ybot, Patricia, Paternotte, C., Stevenson, R. E., Greene, Nicholas D. E., Moore, G. E., Copp, Andrew J., Stanier, P.

Relation: https://doi.org/10.1002/ajmg.a.30766; Sí; American Journal of Medical Genetics - Part A 136A(1): 90-92 (2005); http://hdl.handle.net/10261/348188; 2-s2.0-21644443932; https://api.elsevier.com/content/abstract/scopus_id/21644443932

الاتاحة: http://hdl.handle.net/10261/348188
https://doi.org/10.1002/ajmg.a.30766
https://api.elsevier.com/content/abstract/scopus_id/21644443932

المؤلفون: Doudney, K., Moore, G.E., Stanier, P., Ybot‐Gonzalez, P., Paternotte, C., Greene, N.D.E., Copp, A.J., Stevenson, R.E.

المصدر: American Journal of Medical Genetics Part A ; volume 138A, issue 4, page 415-415 ; ISSN 1552-4825 1552-4833

الاتاحة: http://dx.doi.org/10.1002/ajmg.a.30931
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.a.30931
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.30931

المؤلفون: Chamberlain, S, Farrall, M, Shaw, J, Wilkes, D, Carvajal, J, Hillerman, R, Doudney, K, Harding, AE, Williamson, R, Sirugo, G, Fujita,R, Koenig,M, Mandel, J, Palau,F, Monros,E, Vilchez,J, Prieto,F, Richter, A, Vanasse, M, Melancon, S, Redolfi, E, Cavalcanti, F, Pianese, L, Filla, A, DiDonato,S, Pandolfo M., COCOZZA, SERGIO

المساهمون: Chamberlain, S, Farrall, M, Shaw, J, Wilkes, D, Carvajal, J, Hillerman, R, Doudney, K, Harding, Ae, Williamson, R, Sirugo, G, Fujita, R, Koenig, M, Mandel, J, Palau, F, Monros, E, Vilchez, J, Prieto, F, Richter, A, Vanasse, M, Melancon, S, Cocozza, Sergio, Redolfi, E, Cavalcanti, F, Pianese, L, Filla, A, Didonato, S, Pandolfo, M.

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/8434613; info:eu-repo/semantics/altIdentifier/wos/WOS:A1993KK90800013; volume:52; firstpage:99; lastpage:109; numberofpages:11; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11588/464286; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-0027410313

الاتاحة: http://hdl.handle.net/11588/464286

المؤلفون: Lindsay S, Strachan T, Henderson D, Lisgo S, Braybrook C, Doudney K, Marcano ACB, Patton MA, Villard L, Moore GE, Stanier P

المصدر: Human Molecular Genetics, 01-10-2002

Relation: https://eprints.ncl.ac.uk/84597

الاتاحة: https://eprints.ncl.ac.uk/84597

المؤلفون: Kennedy H, Haack TB, Hartill V, Matakovic L, Baumgartner ER, Potter H, Mackay R, Alston CL, O'Sullivan S, McFarland R, Connolly G, Gannon C, King R, Mead S, Crozier I, Chan W, Florkowski CM, Sage M, Hofken T, Alhaddad B, Kremer LS, Kopajtich R, Feichtinger RG, Sperl W, Rodenburg RJ, Minet JC, Dobbie A, Strom TM, Meitinger T, George PM, Johnson CA, Taylor RW, Prokisch H, Doudney K, Mayr JA

المصدر: American Journal of Human Genetics

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/229269; https://eprints.ncl.ac.uk/fulltext.aspx?url=229269/7B420EF9-E4C3-476B-84CF-1762BB4B37FD.pdf&pub_id=229269

الاتاحة: https://eprints.ncl.ac.uk/229269

المؤلفون: Hillermann, R., See, C.G., Pook, M., Wilkes, D., Carvajal, J., Doudney, K., Williamson, R., Chamberlain, S.

المصدر: Cytogenetic and Genome Research ; volume 71, issue 3, page 214-216 ; ISSN 1424-8581 1424-859X

الاتاحة: http://dx.doi.org/10.1159/000134112
https://www.karger.com/Article/Pdf/134112