المؤلفون: Scherer, SW, Cheung, J, MacDonald, JR, Osborne, LR, Nakabayashi, K, Herbrick, JA, Carson, AR, Parker-Katiraee, L, Skaug, J, Khaja, R, Zhang, JJ, Hudek, AK, Li, M, Haddad, M, Duggan, GE, Fernandez, BA, Kanematsu, E, Gentles, S, Christopoulos, CC, Choufani, S, Kwasnicka, D, Zheng, XQH, Lai, ZW, Nusskern, D, Zhang, Q, Gu, ZP, Lu, F, Zeesman, S, Nowaczyk, MJ, Teshima, I, Chitayat, D, Shuman, C, Weksberg, R, Zackai, EH, Grebe, TA, Cox, SR, Kirkpatrick, SJ, Rahman, N, Friedman, JM, Heng, HHQ, Pelicci, PG, Lo-Coco, F, Belloni, E, Shaffer, LG, Pober, B, Morton, CC, Gusella, JF, Bruns, GAP, Korf, BR, Quade, BJ, Ligon, AH, Ferguson, H, Higgins, AW, Leach, NT, Herrick, SR, Lemyre, E, Farra, CG, Kim, HG, Summers, AM, Gripp, KW, Roberts, W, Szatmari, P, Winsor, EJT, Grzeschik, KH, Teebi, A, Minassian, BA, Kere, J, Armengol, L, Pujana, MA, Estivill, X, Wilson, MD, Koop, BF, Tosi, S, Moore, GE, Boright, AP, Zlotorynski, E, Kerem, B, Kroisel, PM, Petek, E, Oscier, DG, Mould, SJ, Dohner, H, Dohner, K, Rommens, JM, Vincent, JB, Venter, JC, Li, PW, Mural, RJ, Adams, MD, Tsui, LC

المصدر: Science (New York, N.Y.). 300(5620):767-772

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:1934840

المؤلفون: Uddin, M, Pellecchia, G, Thiruvahindrapuram, B, D'Abate, L, Merico, D, Chan, A, Zarrei, M, Tammimies, K, Walker, S, Gazzellone, MJ, Nalpathamkalam, T, Yuen, RKC, Devriendt, K, Mathonnet, G, Lemyre, E, Nizard, S, Shago, M, Joseph-George, AM, Noor, A, Carter, MT, Yoon, G, Kannu, P, Tihy, F, Thorland, EC, Marshall, CR, Buchanan, JA, Speevak, M, Stavropoulos, DJ, Scherer, SW

المصدر: Scientific reports. 6:28663

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:133841345

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المؤلفون: Paoloni-Giacobino, A., Lemieux, N., Lemyre, E.

المصدر: Journal of Intellectual Disability Research. May 2007 51(5):401-405.

Peer Reviewed: Y

Page Count: 5

Descriptors: Intellectual Development, Down Syndrome, Language Impairments

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المؤلفون: BAC Resource Consortium, The, Cheung, V. G., Nowak, N., Jang, W., Kirsch, I. R., Zhao, S., Chen, X.-N., Furey, T. S., Kim, U.-J.^{Aff8, Aff24}, Kuo, W.-L., Olivier, M., Conroy, J., Kasprzyk, A., Massa, H., Yonescu, R., Sait, S., Thoreen, C.^{Aff13, Aff25}, Snijders, A., Lemyre, E., Bailey, J. A., Bruzel, A., Burrill, W. D., Clegg, S. M., Collins, S., Dhami, P., Friedman, C., Han, C. S., Herrick, S., Lee, J., Ligon, A. H., Lowry, S., Morley, M., Narasimhan, S., Osoegawa, K.^{Aff2, Aff18}, Peng, Z., Plajzer-Frick, I., Quade, B. J., Scott, D., Sirotkin, K., Thorpe, A. A., Gray, J. W., Hudson, J., Pinkel, D., Ried, T., Rowen, L., Shen-Ong, G. L.^{Aff4, Aff26}, Strausberg, R. L., Birney, E., Callen, D. F., Cheng, J.-F., Cox, D. R., Doggett, N. A., Carter, N. P., Eichler, E. E., Haussler, D., Korenberg, J. R., Morton, C. C., Albertson, D., Schuler, G., de Jong, P. J.^{Aff2, Aff18}, Trask, B. J.^{Aff12, ID35057192_cor61}

المصدر: Nature: International weekly journal of science. 409(6822):953-958

المؤلفون: Verheije, R., Kupchik, G.S., Isidor, B., Kroes, H.Y., Lynch, S.A., Hawkes, L., Hempel, M., Gelb, B.D., Ghoumid, J., D’Amours, G., Chandler, K., Dubourg, C., Loddo, S., Tümer, Z., Shaw-Smith, C., Nizon, M., Shevell, M., Van Hoof, E., Anyane-Yeboa, K., Cerbone, G., Clayton-Smith, J., Cogné, B., Corre, P., Corveleyn, A., De Borre, M., Hjortshøj, T.D., Fradin, M., Gewillig, M., Goldmuntz, E., Hens, G., Lemyre, E., Journel, H., Kini, U., Kortüm, F., Le Caignec, C., Novelli, A., Odent, S., Petit, F., Revah-Politi, A., Stong, N., Strom, T.M., van Binsbergen, E., DDD Study, Devriendt, K., Breckpot, J.

المصدر: Verheije, R, Kupchik, G S, Isidor, B, Kroes, H Y, Lynch, S A, Hawkes, L, Hempel, M, Gelb, B D, Ghoumid, J, D’amours, G, Chandler, K, Dubourg, C, Loddo, S, Tümer, Z, Shaw-smith, C, Nizon, M, Shevell, M, Van Hoof, E, Anyane-yeboa, K, Cerbone, G, Clayton-smith, J, Cogné, B, Corre, P, Corveleyn, A, De Borre, M, Hjortshøj, T D, Fradin, M, Gewillig, M, Goldmuntz, E, Hens, G, Lemyre, E, Journel, H, Kini, U, Kortüm, F, Le Caignec, C, Novelli, A, Odent, S, Petit, F, Revah-politi, A, Stong, N, Strom, T M, Van Binsbergen, E, Devriendt, K & Breckpot, J 2019, ' Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability ', European Journal of Human Genetics, vol. 27, no. 2, pp. 278-290 . https://doi.org/10.1038/s41431-018-0281-5
European Journal of Human Genetics, 27(2), 278. Nature Publishing Group
Eur. J. Hum. Genet. 27, 278-290 (2019)

مصطلحات موضوعية: Male, Loss of Function Mutation, Intellectual disability, Genetics(clinical), Non-U.S. Gov't, Child, Genetics (clinical), Heart Defects, Genetics, 0303 health sciences, Congenital/genetics, Research Support, Non-U.S. Gov't, 030305 genetics & heredity, Syndrome, Phenotype, Heart Defects, Congenital/genetics, Cleft Palate, Child, Preschool, Female, Haploinsufficiency, Heart Defects, Congenital, Heterozygote, Adolescent, Transcription Factors/genetics, Locus (genetics), Research Support, Article, N.I.H, 03 medical and health sciences, Young Adult, Research Support, N.I.H., Extramural, Cleft Palate/genetics, Intellectual Disability, medicine, Journal Article, Humans, Preschool, Gene, Loss function, Homeodomain Proteins, business.industry, Chromosome, Extramural, Heterozygote advantage, medicine.disease, Intellectual Disability/genetics, Homeodomain Proteins/genetics, business, Transcription Factors

وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document; text/plain; application/pdf; image/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2579d855b96e7c1ca9b154f65da5fdce
https://europepmc.org/articles/PMC6336847/

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