المؤلفون: Blakes, A.J.M., Wai, H.A., Davies, I., Moledina, H.E., Ruiz, A., Thomas, T., Bunyan, D., Thomas, N.S., Burren, C.P., Greenhalgh, L., Lees, M., Pichini, A., Smithson, S.F., Taylor Tavares, A.L., O’Donovan, P., Douglas, A.G.L., Whiffin, N., Baralle, D., Lord, J.

وصف الملف: text

العلاقة: https://eprints.whiterose.ac.uk/207750/1/A%20systematic%20analysis%20of%20splicing%20variants%20identifies%20new%20diagnoses%20in%20the%20100,000%20Genomes%20Project.pdfTest; Blakes, A.J.M., Wai, H.A., Davies, I. et al. (16 more authors) (2022) A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project. Genome Medicine, 14 (1). 79. ISSN 1756-994X

الإتاحة: https://eprints.whiterose.ac.uk/207750Test/
https://eprints.whiterose.ac.uk/207750/1/A%20systematic%20analysis%20of%20splicing%20variants%20identifies%20new%20diagnoses%20in%20the%20100,000%20Genomes%20Project.pdfTest

المؤلفون: Pagnamenta, A.T., Yu, J., Evans, J., Twiss, P., Offiah, A.C., Wafik, M., Mehta, S.G., Javaid, M.K., Smithson, S.F., Taylor, J.C.

وصف الملف: text

العلاقة: https://eprints.whiterose.ac.uk/194498/1/jmg-2022-108753.full.pdfTest; Pagnamenta, A.T., Yu, J., Evans, J. et al. (7 more authors) (2022) Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1. Journal of Medical Genetics. ISSN 0022-2593

الإتاحة: https://eprints.whiterose.ac.uk/194498Test/
https://eprints.whiterose.ac.uk/194498/1/jmg-2022-108753.full.pdfTest

المؤلفون: Gripp, K.W., Smithson, S.F., Scurr, I.J., Baptista, J., Majumdar, A., Pierre, G., Williams, M., Henderson, L.B., Wentzensen, I.M., McLaughlin, H., Leeuwen, L., Simon, MEH, van Binsbergen, E., Dinulos, MBP, Kaplan, J.D., McRae, A., Superti-Furga, A., Good, J.M., Kutsche, K.

المصدر: European journal of human genetics, vol. 29, no. 9, pp. 1384-1395

مصطلحات موضوعية: Abnormalities, Multiple/genetics, Multiple/pathology, Adolescent, Adult, Channelopathies/genetics, Channelopathies/pathology, Child, Craniofacial Abnormalities/genetics, Craniofacial Abnormalities/pathology, Ether-A-Go-Go Potassium Channels/genetics, Female, Fibromatosis, Gingival/genetics, Gingival/pathology, Gain of Function Mutation, Hallux/abnormalities, Hallux/pathology, Hand Deformities, Congenital/genetics, Congenital/pathology, Humans, Intellectual Disability/genetics, Intellectual Disability/pathology, Male, Nails, Malformed/genetics, Malformed/pathology, Phenotype, Potassium Channels/genetics

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33594261; info:eu-repo/semantics/altIdentifier/eissn/1476-5438; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_FB1A5B23DB431; https://serval.unil.ch/notice/serval:BIB_FB1A5B23DB43Test; urn:issn:1018-4813; https://serval.unil.ch/resource/serval:BIB_FB1A5B23DB43.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_FB1A5B23DB431Test

الإتاحة: https://doi.org/10.1038/s41431-021-00818-9Test
https://serval.unil.ch/notice/serval:BIB_FB1A5B23DB43Test
https://serval.unil.ch/resource/serval:BIB_FB1A5B23DB43.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_FB1A5B23DB431Test

المؤلفون: Low, Karen J., James, M., Sharples, P.M., Eaton, M., Jenkinson, S., Study, D.D.D., Smithson, S.F.

المساهمون: Health Innovation Challenge, Wellcome Trust and the Department of Health, Welcome Trust Sanger Institute, Cambridge South REC, Republic of Ireland REC, National Institute for Health Research

المصدر: Seizure ; volume 56, page 1-3 ; ISSN 1059-1311

مصطلحات موضوعية: Neurology (clinical), Neurology, General Medicine

الإتاحة: https://doi.org/10.1016/j.seizure.2018.01.013Test
https://api.elsevier.com/content/article/PII:S1059131117302996?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1059131117302996?httpAccept=text/plainTest

المؤلفون: Reijnders, M.R., Janowski, R., Alvi, M., Self, J.E., van Essen, T.J., Vreeburg, M., Rouhl, R.P.W., Stevens, S.J.C., Stegmann, A.P.A., Schieving, J., Pfundt, R., van Dijk, K.D., Smeets, E.E., Stumpel, C.T.R.M., Bok, L.A., Cobben, J.M., Engelen, M., Mansour, S., Whiteford, M., Chandler, K.E., Douzgou, S., Cooper, N.S., Tan, E.C., Foo, R., Lai, A.H.M., Rankin, J., Green, A.R., Lönnqvist, T., Isohanni, P., Williams, S., Ruhoy, I., Carvalho, K.S., Dowling, J.J., Lev, D.L., Sterbova, K., Lassuthova, P., Neupauerová, J., Waugh, J.L., Keros, S., Clayton-Smith, J., Smithson, S.F., Brunner, H.G., van Hoeckel, C., Anderson, M.D., Clowes, V.E., Siu, V.M., Ddd Study, T., Selber, P., Leventer, R.J., Nellaker, C., Niessing, D., Hunt, D.T.E., Baralle, D.

المصدر: J. Med. Genet. 55, 104-113 (2017)

مصطلحات موضوعية: Pura Syndrome, Epilepsy And Seizures, Hypotonia, Intellectual Disability, Neonatal Problems

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29097605; info:eu-repo/semantics/altIdentifier/wos/WOS:000423230800006; info:eu-repo/semantics/altIdentifier/isbn/0022-2593; info:eu-repo/semant; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=52268Test; urn:isbn:0022-2593; urn:issn:0022-2593; urn:issn:1468-6244

الإتاحة: https://doi.org/10.1136/jmedgenet-2017-104946Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=52268Test

المؤلفون: Edgerley, K., Barnicoat, A., Offiah, A.C., Calder, A.D., Mankad, K., Thomas, N.S., Bunyan, D.J., Williams, M., Buxton, C., Majumdar, A., Vijayakumar, K., Hilliard, T., Turner, J., Burren, C.P., Monsell, F., Smithson, S.F.

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::fcd6e6681feb16eb5d43f51bd54dd43eTest
https://eprints.whiterose.ac.uk/170334/7/AIFM1_final_draft_10.9.20.pdfTest

المؤلفون: Ashraf, T., Vaina, C., Giri, D., Burren, C.P., James, M., Offiah, A.C., Overton, T., Baptista, J., Ellard, S., Smithson, S.F.

العلاقة: Ashraf, T., Vaina, C., Giri, D. et al. (7 more authors) (2020) Expanding the phenotypic spectrum of IFT81 : associated ciliopathy syndrome. American Journal of Medical Genetics Part A, 182 (10). pp. 2403-2408. ISSN 1552-4825

الإتاحة: https://eprints.whiterose.ac.uk/164607Test/

المؤلفون: Hunter, K.B. (Kshamta), Lücke, T. (Thomas), Spranger, J. (Jürgen), Smithson, S.F. (Sarah), Alpay, H. (Harika), André, J.-L. (Jean-Luc), Asakura, Y. (Yumi), Bogdanovic, R. (Radovan), Bonneau, D. (Dominique), Cairns, R. (Robyn), Cransberg, K. (Karlien), Fründ, S. (Stefan), Fryssira, H. (Helen), Goodman, D. (David), Helmke, K. (Knut), Hinkelmann, B. (Barbara), Lama, G. (Guiliana), Lamfers, P. (Petra), Loirat, C. (Chantal), Majore, S. (Silvia), Mayfield, C. (Christy), Pontz, B.F. (Betram), Rusu, C. (Christina), Saraiva, J.M. (Jorge), Schmidt, B. (Beate), Schoemaker, L. (Lawrence), Sigaudy, S. (Sabine), Stajic, N. (Natasa), Taha, D. (Doris), Boerkoel, C.F. (Cornelius)

المصدر: European Journal of Pediatrics vol. 169 no. 7, pp. 801-811

مصطلحات موضوعية: Genocopy, Immunodeficiency, Locus heterogeneity, Proteinuria, Schimke immunoosseous dysplasia, Skeletal dysplasia

العلاقة: http://repub.eur.nl/pub/20674Test; urn:hdl:1765/20674

الإتاحة: https://doi.org/10.1007/s00431-009-1115-9Test
http://repub.eur.nl/pub/20674Test

المؤلفون: Reijnders, M.R.F., Janowski, R., Alvi, M., Self, J.E., Essen, T.J. van, Vreeburg, M., Rouhl, R.P.W., Stevens, S.J.C., Stegmann, A.P.A., Schieving, J.H., Pfundt, R.P., Dijk, K van, Smeets, E., Stumpel, C., Bok, L.A, Cobben, J.M., Engelen, M., Mansour, S., Whiteford, M., Chandler, K.E., Douzgou, S., Cooper, N.S., Tan, Ene-Choo, Foo, R., Lai, A.H., Rankin, J., Green, A., Lonnqvist, T., Isohanni, P., Williams, S., Ruhoy, I., Carvalho, K.S., Dowling, J.J., Lev, D.L., Sterbova, K., Lassuthova, P., Neupauerova, J., Waugh, J.L., Keros, S., Clayton-Smith, J., Smithson, S.F., Brunner, H.G., Hoeckel, C. van, Anderson, M., Clowes, V.E., Siu, V.M., Study, T. Ddd, Selber, P., Leventer, R.J., Nellaker, C., Niessing, D., Hunt, D., Baralle, D.

المصدر: Journal of Medical Genetics, 55, 2, pp. 104-113

مصطلحات موضوعية: Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience

العلاقة: https://repository.ubn.ru.nl//bitstream/handle/2066/190731/190731.pdfTest; http://hdl.handle.net/2066/190731Test

الإتاحة: https://doi.org/10.1136/jmedgenet-2017-104946Test
http://hdl.handle.net/2066/190731Test
https://repository.ubn.ru.nl//bitstream/handle/2066/190731/190731.pdfTest

المؤلفون: Terhal, P.A., Nievelstein, R.J.A.J., Verver, E.J.J., Topsakal, V., van Dommelen, P., Hoornaert, K., Le Merrer, M., Zankl, A., Simon, M.E.H., Smithson, S.F., Marcelis, C., Kerr, B., Clayton-Smith, J., Kinning, E., Mansour, S., Elmslie, F., Goodwin, L., van der Hout, A.H., Veenstra-Knol, H.E., Herkert, J.C., Lund, A.M., Hennekam, R.C.M., Megarbane, A., Lees, M.M., Wilson, L.C., Korteland-van Male, A., Hurst, J., Alanay, Y., Anneren, G., Betz, R.C., Bongers, E.M.H.F., Cormier-Daire, V., Dieux, A., David, A., Elting, M.W., van den Ende, J., Green, A., van Hagen, J.M., Hertel, N.T., Holder-Espinasse, M., den Hollander, N., Homfray, T., Hove, H.D., Price, S., Raas-Rothschild, A., Rohrbach, M., Schroeter, B., Suri, M., Thompson, E.M., Tobias, E.S., Toutain, A., Vreeburg, M., Wakeling, E., Knoers, N.V., Coucke, P., Mortier, G.R.

المصدر: Terhal , P A , Nievelstein , R J A J , Verver , E J J , Topsakal , V , van Dommelen , P , Hoornaert , K , Le Merrer , M , Zankl , A , Simon , M E H , Smithson , S F , Marcelis , C , Kerr , B , Clayton-Smith , J , Kinning , E , Mansour , S , Elmslie , F , Goodwin , L , van der Hout , A H , Veenstra-Knol , H E , Herkert , J C , Lund , A ....

العلاقة: https://research.vumc.nl/en/publications/067ade9f-251d-482d-85d0-4d969824d8cfTest

الإتاحة: https://doi.org/10.1002/ajmg.a.36922Test
https://research.vumc.nl/en/publications/067ade9f-251d-482d-85d0-4d969824d8cfTest