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1دورية أكاديمية
المؤلفون: Dyment, D. A. (David A.), O'Donnell-Luria, A. (Anne), Agrawal, P. B. (Pankaj B.), Coban Akdemir, Z. (Zeynep), Aleck, K. A. (Kyrieckos A.), Antaki, D. (Danny), Al Sharhan, H. (Hind), Au, P. B. (Ping-Yee B.), Aydin, H. (Hatip), Beggs, A. H. (Alan H.), Bilguvar, K. (Kaya), Boerwinkle, E. (Eric), Brand, H. (Harrison), Brownstein, C. A. (Catherine A.), Buyske, S. (Steve), Chodirker, B. (Bernard), Choi, J. (Jungmin), Chudley, A. E. (Albert E.), Clericuzio, C. L. (Carol L.), Cox, G. F. (Gerald F.), Curry, C. (Cynthia), De Boer, E. (Elke), De Vries, B. B. (Bert B. A.), Dunn, K. (Kathryn), Dutmer, C. M. (Cullen M.), England, E. M. (Eleina M.), Fahrner, J. A. (Jill A.), Geckinli, B. B. (Bilgen B.), Genetti, C. A. (Casie A.), Gezdirici, A. (Alper), Gibson, W. T. (William T.), Gleeson, J. G. (Joseph G.), Greenberg, C. R. (Cheryl R.), Hall, A. (April), Hamosh, A. (Ada), Hartley, T. (Taila), Jhangiani, S. N. (Shalini N.), Karaca, E. (Ender), Kernohan, K. (Kristin), Lauzon, J. L. (Julie L.), Lewis, M. E. (M. E. Suzanne), Lowry, R. B. (R. Brian), López-Giráldez, F. (Francesc), Matise, T. C. (Tara C.), McEvoy-Venneri, J. (Jennifer), McInnes, B. (Brenda), Mhanni, A. (Aziz), Garcia Minaur, S. (Sixto), Moilanen, J. (Jukka), Nguyen, A. (An), Nowaczyk, M. J. (Malgorzata J. M.), Posey, J. E. (Jennifer E.), Õunap, K. (Katrin), Pehlivan, D. (Davut), Pajusalu, S. (Sander), Penney, L. S. (Lynette S.), Poterba, T. (Timothy), Prontera, P. (Paolo), Rodovalho Doriqui, M. J. (Maria Juliana), Sawyer, S. L. (Sarah L.), Sobreira, N. (Nara), Stanley, V. (Valentina), Torun, D. (Deniz), Wargowski, D. (David), Witmer, P. D. (P. Dane), Wong, I. (Isaac), Xing, J. (Jinchuan), Zaki, M. S. (Maha S.), Zhang, Y. (Yeting), C. C. (Care4Rare Consortium), C. F. (Centers For Mendelian Genomics), Boycott, K. M. (Kym M.), Bamshad, M. J. (Michael J.), Nickerson, D. A. (Deborah A.), Blue, E. E. (Elizabeth E.), Innes, A. M. (A. Micheil)
مصطلحات موضوعية: Dubowitz syndrome, exome sequencing, genetic heterogeneity, genome sequencing, microarray
وصف الملف: application/pdf
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2دورية أكاديمية
المؤلفون: Choufani S., Gibson W. T., Turinsky A. L., Chung B. H. Y., Wang T., Garg K., Vitriolo A., Cohen A. S. A., Cyrus S., Goodman S., Chater-Diehl E., Brzezinski J., Brudno M., Ming L. H., White S. M., Lynch S. A., Clericuzio C., Temple I. K., Flinter F., McConnell V., Cushing T., Bird L. M., Splitt M., Kerr B., Scherer S. W., Machado J., Imagawa E., Okamoto N., Matsumoto N., Testa G., Iascone M., Tenconi R., Caluseriu O., Mendoza-Londono R., Chitayat D., Cytrynbaum C., Tatton-Brown K., Weksberg R.
المساهمون: S. Choufani, W.T. Gibson, A.L. Turinsky, B.H.Y. Chung, T. Wang, K. Garg, A. Vitriolo, A.S.A. Cohen, S. Cyru, S. Goodman, E. Chater-Diehl, J. Brzezinski, M. Brudno, L.H. Ming, S.M. White, S.A. Lynch, C. Clericuzio, I.K. Temple, F. Flinter, V. Mcconnell, T. Cushing, L.M. Bird, M. Splitt, B. Kerr, S.W. Scherer, J. Machado, E. Imagawa, N. Okamoto, N. Matsumoto, G. Testa, M. Iascone, R. Tenconi, O. Caluseriu, R. Mendoza-Londono, D. Chitayat, C. Cytrynbaum, K. Tatton-Brown, R. Weksberg
مصطلحات موضوعية: DNA methylation signature, EED, intellectual disability, overgrowth syndrome, SUZ12, Abnormalities, Multiple, Adolescent, Adult, Child, Preschool, Cohort Studie, Congenital Hypothyroidism, Craniofacial Abnormalitie, Enhancer of Zeste Homolog 2 Protein, Female, Hand Deformities, Congenital, Human, Infant, Male, Mosaicism, Mutation, Missense, Polycomb Repressive Complex 2, Reproducibility of Result, Young Adult, DNA Methylation, Settore BIO/11 - Biologia Molecolare, Settore BIO/18 - Genetica
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32243864; info:eu-repo/semantics/altIdentifier/wos/WOS:000531096100002; volume:106; issue:5; firstpage:596; lastpage:610; numberofpages:15; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/2434/801637Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85084134777
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3دورية أكاديمية
المؤلفون: Choufani, S, Gibson, WT, Turinsky, AL, Chung, BHY, Wang, T, Garg, K, Vitriolo, A, Cohen, ASA, Cyrus, S, Goodman, S, Chater-Diehl, E, Brzezinski, J, Brudno, M, Ming, LH, White, SM, Lynch, SA, Clericuzio, C, Temple, IK, Flinter, F, McConnell, V, Cushing, T, Bird, LM, Splitt, M, Kerr, B, Scherer, SW, Machado, J, Imagawa, E, Okamoto, N, Matsumoto, N, Testa, G, Iascone, M, Tenconi, R, Caluseriu, O, Mendoza-Londono, R, Chitayat, D, Cytrynbaum, C, Tatton-Brown, K, Weksberg, R
العلاقة: pii: S0002-9297(20)30084-7; Choufani, S., Gibson, W. T., Turinsky, A. L., Chung, B. H. Y., Wang, T., Garg, K., Vitriolo, A., Cohen, A. S. A., Cyrus, S., Goodman, S., Chater-Diehl, E., Brzezinski, J., Brudno, M., Ming, L. H., White, S. M., Lynch, S. A., Clericuzio, C., Temple, I. K., Flinter, F. ,. Weksberg, R. (2020). DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes. AMERICAN JOURNAL OF HUMAN GENETICS, 106 (5), pp.596-610. https://doi.org/10.1016/j.ajhg.2020.03.008Test.; http://hdl.handle.net/11343/251459Test
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4دورية أكاديمية
المؤلفون: Twigg, S, Wilkie, A, Hufnagel, R, Miller, K, Zhou, Y, McGowan, S, Taylor, J, Craft, J, Santoro, S, Huang, T, Hopkin, R, Brady, A, Clayton-Smith, J, Clericuzio, C, Grange, D, Groesser, L, Hafner, C, Horn, D, Temple, I, Dobyns, W, Curry, C, Jones, M
العلاقة: https://ora.ox.ac.uk/objects/uuid:bd0f6d9c-4c72-4a77-a958-6e0646d0aaaaTest; https://doi.org/10.1016/j.ajhg.2016.04.007Test
الإتاحة: https://doi.org/10.1016/j.ajhg.2016.04.007Test
https://ora.ox.ac.uk/objects/uuid:bd0f6d9c-4c72-4a77-a958-6e0646d0aaaaTest -
5دورية أكاديمية
المؤلفون: Ansari, M, Rainger, J, Hanson, IM, Williamson, KA, Sharkey, F, Harewood, L, Sandilands, A, Clayton-Smith, J, Dollfus, H, Bitoun, P, Meire, F, Fantes, J, Franco, B, Lorenz, B, Taylor, DS, Stewart, F, Willoughby, CE, McEntagart, M, Khaw, PT, Clericuzio, C, Van Maldergem, L, Williams, D, Newbury-Ecob, R, Traboulsi, EI, Silva, ED, Madlom, MM, Goudie, DR, Fleck, BW, Wieczorek, D, Kohlhase, J, McTrusty, AD, Gardiner, C, Yale, C, Moore, AT, Russell-Eggitt, I, Islam, L, Lees, M, Beales, PL, Tuft, SJ, Solano, JB, Splitt, M, Hertz, JM, Prescott, TE, Shears, DJ, Nischal, KK, Doco-Fenzy, M, Prieur, F, Temple, IK, Lachlan, KL, Damante, G, Morrison, DA, van Heyningen, V, FitzPatrick, DR
المصدر: PLoS One , 11 (4) , Article e0153757. (2016)
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/1489804/7/Ansari%202016%20Genetic%20analysis%20of%20PAX6-Negative.PDFTest; https://discovery.ucl.ac.uk/id/eprint/1489804Test/
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6دورية أكاديمية
المؤلفون: Gissen, P, Tee, L, Johnson, CA, Genin, E, Caliebe, A, Chitayat, D, Clericuzio, C, Denecke, J, Di Rocco, M, Fischler, B, FitzPatrick, D, Garcia-Cazorla, A, Guyot, D, Jacquemont, S, Koletzko, S, Leheup, B, Mandel, H, Sanseverino, MTV, Houwen, RHJ, McKiernan, PJ, Kelly, DA, Maher, ER
المصدر: Human genetics. 120(3):396-409
مصطلحات موضوعية: Medicin och hälsovetenskap
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7دورية أكاديمية
المؤلفون: Tatton-Brown, K, Hanks, S, Ruark, E, Zachariou, A, Duarte, SDV, Ramsay, E, Snape, K, Murray, A, Perdeaux, ER, Seal, S, Loveday, C, Banka, S, Clericuzio, C, Flinter, F, Magee, A, McConnell, V, Patton, M, Raith, W, Rankin, J, Splitt, M, Strenger, V, Taylor, C, Wheeler, P, Temple, IK, Cole, T, Douglas, J, Rahman, N
العلاقة: pii: 385; Tatton-Brown, K., Hanks, S., Ruark, E., Zachariou, A., Duarte, S. D. V., Ramsay, E., Snape, K., Murray, A., Perdeaux, E. R., Seal, S., Loveday, C., Banka, S., Clericuzio, C., Flinter, F., Magee, A., McConnell, V., Patton, M., Raith, W., Rankin, J. ,. Rahman, N. (2011). Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height. ONCOTARGET, 2 (12), pp.1127-1133. https://doi.org/10.18632/oncotarget.385Test.; http://hdl.handle.net/11343/245751Test
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8دورية أكاديمية
المؤلفون: Doherty, D, Parisi, M A, Finn, L S, Gunay-Aygun, M, Al-Mateen, M, Bates, D, Clericuzio, C, Demir, H, Dorschner, M, van Essen, A J, Gahl, W A, Gentile, M, Gorden, N T, Hikida, A, Knutzen, D, Özyurek, H, Phelps, I, Rosenthal, P, Verloes, A, Weigand, H, Chance, P F, Dobyns, W B, Glass, I A
مصطلحات موضوعية: Original article
وصف الملف: text/html
العلاقة: http://jmg.bmj.com/cgi/content/short/47/1/8Test; http://dx.doi.org/10.1136/jmg.2009.067249Test
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9دورية أكاديمية
المؤلفون: Parisi, M. A., Demir, H., Phelps, I., Rosenthal, P., Verloes, A., Weigand, H., Hikida, A., Chance, P. F., Dobyns, W. B., Glass, I. A., Gorden, N. T., Gentile, M., Gahl, W. A., van Essen, A. J., Al-Mateen, M., Gunay-Aygun, M., Finn, L. S., Ozyurek, H., Knutzen, D., Clericuzio, C., Bates, D., Dorschner, M., Doherty, D.
العلاقة: 538db1c3-e5ff-49f2-99f1-e2f8f00fc7a1; https://avesis.hacettepe.edu.tr/publication/details/538db1c3-e5ff-49f2-99f1-e2f8f00fc7a1/oaiTest
الإتاحة: https://doi.org/10.1136/jmg.2009.067249Test
https://avesis.hacettepe.edu.tr/publication/details/538db1c3-e5ff-49f2-99f1-e2f8f00fc7a1/oaiTest -
10دورية أكاديمية
المؤلفون: Grebe, Theresa A., Clericuzio, C.
المصدر: American Journal of Medical Genetics ; volume 95, issue 2, page 135-143 ; ISSN 0148-7299 1096-8628
الإتاحة: https://doi.org/10.1002/1096-8628Test(20001113)95:2%3C135::aid-ajmg8%3E3.0.co%3B2-j
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