المؤلفون: Gannon, T, Perveen, R, Schlecht, H, Ramsden, S, Anderson, B, Kerr, B, Day, R, Banka, S, Suri, M, Berland, S, Gabbett, M, Ma, A, Lyonnet, S, Cormier-Daire, V, Yilmaz, R, Borck, G, Wieczorek, D, Anderlid, BM, Smithson, S, Vogt, J, Moore-Barton, H, Simsek-Kiper, PO, Maystadt, I, Destree, A, Bucher, J, Angle, B, Mohammed, S, Wakeling, E, Price, S, Singer, A, Sznajer, Y, Toutain, A, Haye, D, Newbury-Ecob, R, Fradin, M, McGaughran, J, Tuysuz, B, Tein, M, Bouman, K, Dabir, T, Van den Ende, J, Luk, HM, Pilz, DT, Eason, J, Davies, S, Reardon, W, Garavelli, L, Zuffardi, O, Devriendt, K, Armstrong, R, Johnson, D, Doco-Fenzy, M, Bijlsma, E, Unger, S, Veenstra-Knol, HE, Kohlhase, J, Lo, IFM, Smith, J, Clayton-Smith, J

المصدر: European journal of human genetics : EJHG. 23(9):1165-1170

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:131785262Test

المؤلفون: Lee, E, Le, T, Zhu, Y, Elakis, G, Turner, A, Lo, W, Venselaar, H, Verrenkamp, CA, Snow, N, Mowat, D, Kirk, EP, Sachdev, R, Smith, J, Brown, NJ, Wallis, M, Barnett, C, McKenzie, F, Freckmann, ML, Collins, F, Chopra, M, Gregersen, N, Hayes, I, Rajagopalan, S, Tan, TY, Stark, Z, Savarirayan, R, Yeung, A, Adès, L, Gattas, M, Gibson, K, Gabbett, M, Amor, DJ, Lattanzi, W, Boyd, S, Haan, E, Gianoutsos, M, Cox, TC, Buckley, MF, Roscioli, T

المصدر: urn:ISSN:1098-3600 ; urn:ISSN:1530-0366 ; Genetics in Medicine, 20, 9, 1061-1068

مصطلحات موضوعية: Dental/Oral and Craniofacial Disease, Genetics, Clinical Research, Rare Diseases, 2.1 Biological and endogenous factors, 2 Aetiology, Australia, Basic Helix-Loop-Helix Transcription Factors, Cohort Studies, Cranial Sutures, Craniosynostoses, DNA-Binding Proteins, Ephrin-B1, Female, Fibroblast Growth Factor 10, Genetic Testing, High-Throughput Nucleotide Sequencing, Humans, Male, New Zealand, Nuclear Proteins, Prospective Studies, Receptor, Fibroblast Growth Factor, Type 1, Repressor Proteins, Retrospective Studies, Transcription Factors, Twist-Related Protein 1, EFNB1

العلاقة: http://hdl.handle.net/1959.4/unsworks_52715Test; https://doi.org/10.1038/gim.2017.214Test

الإتاحة: https://doi.org/10.1038/gim.2017.214Test
http://hdl.handle.net/1959.4/unsworks_52715Test

المؤلفون: Mirzaa, G., Timms, A.E., Conti, V., Boyle, E.A., Girisha, K.M., Martin, B., Kircher, M., Olds, C., Juusola, J., Collins, S., Park, K., Carter, M., Glass, I., Krägeloh-Mann, I., Chitayat, D., Parikh, A.S., Bradshaw, R., Torti, E., Braddock, S., Burke, L., Ghedia, S., Stephan, M., Stewart, F., Prasad, C., Napier, M., Saitta, S., Straussberg, R., Gabbett, M., O'Connor, B.C., Keegan, C.E., Yin, L.J., Lai, A.H., Martin, N., McKinnon, M., Addor, M.C., Boccuto, L., Schwartz, C.E., Lanoel, A., Conway, R.L., Devriendt, K., Tatton-Brown, K., Pierpont, M.E., Painter, M., Worgan, L., Reggin, J., Hennekam, R., Tsuchiya, K., Pritchard, C.C., Aracena, M., Gripp, K.W., Cordisco, M., Van Esch, H., Garavelli, L., Curry, C., Goriely, A., Kayserilli, H., Shendure, J., Graham, J., Guerrini, R., Dobyns, W.B.

المصدر: JCI insight, vol. 1, no. 9, pp. 18p.

مصطلحات موضوعية: Class I Phosphatidylinositol 3-Kinases/genetics, Female, Genetic Association Studies, High-Throughput Nucleotide Sequencing, Humans, Infant, Male, Malformations of Cortical Development/genetics, Mosaicism, Mutation, Phenotype, Tissue Distribution, Vascular Malformations/genetics

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27631024; info:eu-repo/semantics/altIdentifier/pissn/2379-3708; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_4CC9606A7F295; https://serval.unil.ch/notice/serval:BIB_4CC9606A7F29Test; urn:issn:2379-3708; https://serval.unil.ch/resource/serval:BIB_4CC9606A7F29.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_4CC9606A7F295Test

الإتاحة: https://doi.org/10.1172/jci.insight.87623Test
https://serval.unil.ch/notice/serval:BIB_4CC9606A7F29Test
https://serval.unil.ch/resource/serval:BIB_4CC9606A7F29.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_4CC9606A7F295Test

المؤلفون: Mirzaa, G, Timms, AE, Conti, V, Boyle, EA, Girisha, KM, Martin, B, Kircher, M, Olds, C, Juusola, J, Collins, S, Park, K, Carter, M, Glass, I, Krägeloh-Mann, I, Chitayat, D, Parikh, AS, Bradshaw, R, Torti, E, Braddock, S, Burke, L, Ghedia, S, Stephan, M, Stewart, F, Prasad, C, Napier, M, Saitta, S, Straussberg, R, Gabbett, M, O'Connor, BC, Keegan, CE, Yin, LJ, Lai, AHM, Martin, N, McKinnon, M, Addor, M-C, Boccuto, L, Schwartz, CE, Lanoel, A, Conway, RL, Devriendt, K, Tatton-Brown, K, Pierpont, ME, Painter, M, Worgan, L, Reggin, J, Hennekam, R, Tsuchiya, K, Pritchard, CC, Aracena, M, Gripp, KW, Cordisco, M, Van Esch, H, Garavelli, L, Curry, C, Goriely, A, Kayserilli, H, Shendure, J, Graham, J, Guerrini, R, Dobyns, WB

وصف الملف: application/pdf

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/111377/1/87623.4-20170503130349-covered-253bed37ca4c1ab43d105aefdf7b5536.pdfTest; Mirzaa, G; Timms, AE; Conti, V; Boyle, EA; Girisha, KM; Martin, B; Kircher, M; Olds, C; Juusola, J; Collins, S; et al. Mirzaa, G; Timms, AE; Conti, V; Boyle, EA; Girisha, KM; Martin, B; Kircher, M; Olds, C; Juusola, J; Collins, S; Park, K; Carter, M; Glass, I; Krägeloh-Mann, I; Chitayat, D; Parikh, AS; Bradshaw, R; Torti, E; Braddock, S; Burke, L; Ghedia, S; Stephan, M; Stewart, F; Prasad, C; Napier, M; Saitta, S; Straussberg, R; Gabbett, M; O'Connor, BC; Keegan, CE; Yin, LJ; Lai, AHM; Martin, N; McKinnon, M; Addor, M-C; Boccuto, L; Schwartz, CE; Lanoel, A; Conway, RL; Devriendt, K; Tatton-Brown, K; Pierpont, ME; Painter, M; Worgan, L; Reggin, J; Hennekam, R; Tsuchiya, K; Pritchard, CC; Aracena, M; Gripp, KW; Cordisco, M; Van Esch, H; Garavelli, L; Curry, C; Goriely, A; Kayserilli, H; Shendure, J; Graham, J; Guerrini, R; Dobyns, WB (2016) PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution. JCI Insight, 1 (9). e87623. ISSN 2379-3708 https://doi.org/10.1172/jci.insight.87623Test SGUL Authors: Tatton-Brown, Katrina Louise

الإتاحة: https://doi.org/10.1172/jci.insight.87623Test
https://openaccess.sgul.ac.uk/id/eprint/111377Test/
https://openaccess.sgul.ac.uk/id/eprint/111377/1/87623.4-20170503130349-covered-253bed37ca4c1ab43d105aefdf7b5536.pdfTest

المؤلفون: Mallett, A, Patel, C, Maier, B, McGaughran, J, Gabbett, M, Takasato, M, Cameron, A, Trnka, P, Alexander, SI, Rangan, G, Tchan, MC, Caruana, G, John, G, Quinlan, C, McCarthy, HJ, Hyland, V, Hoy, WE, Wolvetang, E, Taft, R, Simons, C, Healy, H, Little, M

العلاقة: pii: 10.1186/s12882-015-0148-8; Mallett, A., Patel, C., Maier, B., McGaughran, J., Gabbett, M., Takasato, M., Cameron, A., Trnka, P., Alexander, S. I., Rangan, G., Tchan, M. C., Caruana, G., John, G., Quinlan, C., McCarthy, H. J., Hyland, V., Hoy, W. E., Wolvetang, E., Taft, R. ,. Little, M. (2015). A protocol for the identification and validation of novel genetic causes of kidney disease. BMC NEPHROLOGY, 16 (1), https://doi.org/10.1186/s12882-015-0148-8Test.; http://hdl.handle.net/11343/257716Test

الإتاحة: https://doi.org/10.1186/s12882-015-0148-8Test
http://hdl.handle.net/11343/257716Test

المؤلفون: Mirzaa, G., Timms, A. E., Conti, V., Boyle, E. A., Girisha, K. M., Martin, B., Kircher, M., Olds, C., Juusola, J., Inestrosa Cantín, Nibaldo, Aracena Álvarez, Mariana Inés, Collins, S., Park, K., Carter, M., Glass, I., Krogeloh-Mann, I., Chitayat, D., Parikh, A. S., Bradshaw, R., Torti, E., Braddock, S., Burke, L., Ghedia, S., Stephan, M., Stewart, F., Prasad, C., Napier, M., Saitta, S., Straussberg, R., Gabbett, M., O'Connor, B. C., Keegan, C. E., Yin, L. J., Lai, A. H. M., Martin, N., McKinnon, M., Addor, M. C., Boccuto, L., Schwartz, C. E., Lanoel, A., Conway, R. L., Devriendt, K., Tatton-Brown, K., Pierpont, M. E., Painter, M., Worgan, L., Reggin, J., Hennekam, R., Tsuchiya, K., Pritchard, C. C., Gripp, K. W., Cordisco, M., Van Esch, H., Garavelli, L., Curry, C., Goriely, A., Kayserilli, H., Shendure, J., Graham, J., Guerrini, R., Dobyns, W. B.

وصف الملف: 18 páginas; application/pdf

العلاقة: https://doi.org/10.1172/jci.insight.87623Test; https://repositorio.uc.cl/handle/11534/58046Test

الإتاحة: https://doi.org/10.1172/jci.insight.87623Test
https://repositorio.uc.cl/handle/11534/58046Test

المؤلفون: Roscioli, T, Elakis, G, Cox, TC, Moon, DJ, Venselaar, H, Turner, AM, Le, T, Hackett, E, Haan, E, Colley, A, Mowat, D, Worgan, L, Kirk, EP, Sachdev, R, Thompson, E, Gabbett, M, Mcgaughran, J, Gibson, K, Gattas, M, Freckmann, ML, Dixon, J, Hoefsloot, L, Field, M, Hackett, A, Kamien, B, Edwards, M, Adès, LC, Collins, FA, Wilson, MJ, Savarirayan, R, Tan, TY, Amor, DJ, Mcgillivray, G, White, SM, Glass, IA, David, DJ, Anderson, PJ, Gianoutsos, M, Buckley, MF

المصدر: urn:ISSN:1552-4868 ; urn:ISSN:1552-4876 ; American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, 163, 4, 259-270

مصطلحات موضوعية: Genetic Testing, Rare Diseases, Brain Disorders, Genetics, Dental/Oral and Craniofacial Disease, Clinical Research, 2 Aetiology, 2.1 Biological and endogenous factors, Congenital, Acrocephalosyndactylia, Australia, Craniofacial Dysostosis, Craniosynostoses, Humans, Mutation, New Zealand, Nuclear Proteins, Receptor, Fibroblast Growth Factor, Type 1, Type 2, Type 3, Twist-Related Protein 1, Muenke, Saethre-Chotzen, TWIST1, apert, crouzon, fibroblast growth factor receptor, pfeiffer

العلاقة: http://purl.org/au-research/grants/nhmrc/APP1045465Test; http://hdl.handle.net/1959.4/unsworks_34588Test; https://doi.org/10.1002/ajmg.c.31378Test

الإتاحة: https://doi.org/10.1002/ajmg.c.31378Test
http://hdl.handle.net/1959.4/unsworks_34588Test

المؤلفون: Runge, C. E., MacKenzie, A., Loos, C., Waller, M., Gabbett, M., Mills, R., Eley, D. S.

مصطلحات موضوعية: Queensland, health manpower, medical staff, regional health planning, rural health services, 2724 Internal Medicine

العلاقة: orcid:0000-0002-8888-0449; orcid:0000-0002-0624-4685; orcid:0000-0002-1050-4574; orcid:0000-0002-8612-114X; orcid:0000-0001-7256-9325

الإتاحة: https://doi.org/10.1111/imj.13156Test
https://espace.library.uq.edu.au/view/UQ:406885Test

المؤلفون: Jenkins, D, Baynam, G, De Catte, L, Elcioglu, N, Gabbett, M, Hudgins, L, Hurst, J, Jehee, F, Oley, C, Wilkie, A

العلاقة: https://ora.ox.ac.uk/objects/uuid:c0e09f63-13ab-4874-9a46-4eae4a2c08faTest; https://doi.org/10.1002/humu.21457Test

الإتاحة: https://doi.org/10.1002/humu.21457Test
https://ora.ox.ac.uk/objects/uuid:c0e09f63-13ab-4874-9a46-4eae4a2c08faTest

المؤلفون: MacKenzie, A., Gabbett, M., Loos, C., Waller, M., Kanesarajah, J., Flynn, J., Mills, R., Warfe, P., Doherty, R., Nasveld, P.

العلاقة: orcid:0000-0002-0624-4685; orcid:0000-0002-1050-4574; orcid:0000-0001-5776-128X; orcid:0000-0002-8612-114X

الإتاحة: https://doi.org/10.1111/imj.12435Test
https://espace.library.uq.edu.au/view/UQ:333100Test