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المؤلفون: Jin, S. C., Lewis, S. A., Bakhtiari, S., Zeng, X., Sierant, M. C., Shetty, S., Nordlie, S. M., Elie, A., Corbett, M. A., Norton, B. Y., van Eyk, C. L., Haider, S., Guida, B. S., Magee, H., Liu, J. M., Pastore, S., Vincent, J. B., Brunstrom-Hernandez, J., Papavasileiou, A., Fahey, M. C., Berry, J. G., Harper, K., Zhou, C. C., Zhang, J. H., Li, B. Y., Heim, J., Webber, D. L., Frank, M. S. B., Xia, L., Xu, Y. R., Zhu, D. N., Zhang, B. H., Sheth, A. H., Knight, J. R., Castaldi, C., Tikhonova, I. R., Lopez-Giraldez, F., Keren, B., Whalen, S., Buratti, J., Doummar, D., Cho, M. G., Retterer, K., Millan, F., Wang, Y. G., Waugh, J. L., Rodan, L., Cohen, J. S., Fatemi, A., LinE, LinE, Phillips, J. P., Feyma, T., MacLennan, S. C., Vaughan, S., Crompton, K. E., Reid, S. M., Reddihough, D. S., Shang, Q., Gao, C., Novak, I., Badawi, N., Wilson, Y. A., McIntyre, S. J., Mane, S. M., Wang, Xiaoyang, 1965, Amor, D. J., Zarnescu, D. C., Lu, Q. S., Xing, Q. H., Zhu, C. L., Bilguvar, K., Padilla-Lopez, S., Lifton, R. P., Gecz, J., MacLennan, A. H., Kruer, M. C.

المصدر: Nature Genetics. 52(10)

مصطلحات موضوعية: Medical Genetics, Medicinsk genetik, Genetics, Genetik, congenital heart-disease, copy-number variations, de-novo, intellectual, disability, truncating mutations, alk kinase, protein, brain, rare, phosphorylation, Genetics & Heredity

URL الوصول: https://gup.ub.gu.se/publication/297233

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المؤلفون: MacLennan, A. H. (Alastair H.), Lewis, S. (Sara), Moreno-De-Luca, A. (Andres), Fahey, M. (Michael), Leventer, R. J. (Richard J.), McIntyre, S. (Sarah), Ben-Pazi, H. (Hilla), Corbett, M. (Mark), Wang, X. (Xiaoyang), Baynam, G. (Gareth), Fehlings, D. (Darcy), Kurian, M. A. (Manju A.), Zhu, C. (Changlian), Himmelmann, K. (Kate), Smithers-Sheedy, H. (Hayley), Wilson, Y. (Yana), Ocaña, C. S. (Carlos Santos), van Eyk, C. (Clare), Badawi, N. (Nadia), Wintle, R. F. (Richard F.), Jacobsson, B. (Bo), Amor, D. J. (David J.), Mallard, C. (Carina), Pérez-Jurado, L. A. (Luis A.), Hallman, M. (Mikko), Rosenbaum, P. J. (Peter J.), Kruer, M. C. (Michael C.), Gecz, J. (Jozef)

مصطلحات الفهرس: causation, cerebral palsy, clinical definition, genomics, info:eu-repo/semantics/article, info:eu-repo/semantics/publishedVersion

URL: http://urn.fi/urn:nbn:fi-fe2019101032124

المؤلفون: Lee, E., Le, T., Zhu, Y., Elakis, G., Turner, A., Lo, W., Venselaar, H., Verrenkamp, C. -A., Snow, N., Mowat, D., Kirk, E. P., Sachdev, R., Smith, J., Brown, N. J., Wallis, M., Barnett, C., Mckenzie, F., Freckmann, M. -L., Collins, F., Chopra, M., Gregersen, N., Hayes, I., Rajagopalan, S., Tan, T. Y., Stark, Z., Savarirayan, R., Yeung, A., Ades, L., Gattas, M., Gibson, K., Gabbett, M., Amor, D. J., Lattanzi, Wanda, Boyd, S., Haan, E., Gianoutsos, M., Cox, T. C., Buckley, M. F., Roscioli, T., Lattanzi W. (ORCID:0000-0003-3092-4936)

مصطلحات الفهرس: coronal, craniosynostosi, EFNB1, panel, TCF12, Australia, Basic Helix-Loop-Helix Transcription Factor, Cohort Studie, Cranial Suture, Craniosynostose, DNA-Binding Protein, Ephrin-B1, Female, Fibroblast Growth Factor 10, Genetic Testing, High-Throughput Nucleotide Sequencing, Human, Male, New Zealand, Nuclear Protein, Prospective Studie, Receptor, Fibroblast Growth Factor, Type 1, Repressor Protein, Retrospective Studie, Transcription Factor, Twist-Related Protein 1, Settore BIO/13 - BIOLOGIA APPLICATA, info:eu-repo/semantics/article

URL: http://hdl.handle.net/10807/152979
info:eu-repo/semantics/altIdentifier/pmid/29215649
info:eu-repo/semantics/altIdentifier/wos/WOS:000445531800020
volume:20
issue:9
firstpage:1061
lastpage:1068
numberofpages:8
issueyear:2018
journal:GENETICS IN MEDICINE

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المؤلفون: Roscioli, Tony, Elakis, George, Cox, Timothy C., Moon, David J., Venselaar, Hanka, Turner, Anne M., Le, Trang, Hackett, Emma, Haan, Eric, Colley, Alison, Mowat, David, Worgan, Lisa, Kirk, Edwin P., Sachdev, Rani, Thompson, Elizabeth, Gabbett, M., Mcgaughran, J., Gibson, K., Gattas, M., Freckmann, Mary‐Louise, Dixon, Joanne, Hoefsloot, Lies, Field, M., Hackett, Anna, Kamien, B., Edwards, M., Adès, L. C., Collins, F. A., Wilson, M. J., Savarirayan, Ravi, Tan, Tiong Yang, Amor, D. J., McGillivray, George, White, Susan, Glass, I. A., David, David John, Anderson, P. J., Gianoutsos, Mark, Buckley, M. F.

المصدر: American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

مصطلحات الفهرس: Apert, Crouzon, Fibroblast growth factor receptor, Muenke, Pfeiffer, Saethre-Chotzen, TWIST1, Contribution to Journal

URL: doi:10.1002/ajmg.c.31378
Roscioli, Tony, Elakis, George, Cox, Timothy C., Moon, David J., Venselaar, Hanka, Turner, Anne M., Le, Trang, Hackett, Emma, Haan, Eric, Colley, Alison, Mowat, David, Worgan, Lisa, Kirk, Edwin P., Sachdev, Rani, Thompson, Elizabeth, Gabbett, M., Mcgaughran, J., Gibson, K., Gattas, M., Freckmann, Mary‐Louise, Dixon, Joanne, Hoefsloot, Lies, Field, M., Hackett, Anna, Kamien, B., Edwards, M., Adès, L. C., Collins, F. A., Wilson, M. J., Savarirayan, Ravi, Tan, Tiong Yang, Amor, D. J., McGillivray, George, White, Susan, Glass, I. A., David, David John, Anderson, P. J., Gianoutsos, Mark, & Buckley, M. F. (2013) Genotype and clinical care correlations in craniosynostosis : Findings from a cohort of 630 Australian and New Zealand patients. American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, 163(4), pp. 259-270.