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1دورية أكاديمية
المؤلفون: Deniz, E., Pasha, M., Guerra, M.E., Viviano, S., Ji, W., Konstantino, M., Jeffries, L., Lakhani, S.A., Medne, L., Skraban, C., Krantz, I., Khokha, M.K.
المساهمون: National Institutes of Health
المصدر: Developmental Biology ; volume 499, page 75-88 ; ISSN 0012-1606
مصطلحات موضوعية: Cell Biology, Developmental Biology, Molecular Biology
الإتاحة: https://doi.org/10.1016/j.ydbio.2023.04.006Test
https://api.elsevier.com/content/article/PII:S0012160623000672?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0012160623000672?httpAccept=text/plainTest -
2دورية أكاديمية
المؤلفون: Jeffries, L., Mis, E. K., McWalter, K., Donkervoort, S., Brodsky, N. N., Carpier, J. M., Ji, W., Ionita, C., Roy, B., Morrow, J. S., Darbinyan, A., Iyer, K., Aul, R. B., Banka, S., Chao, K. R., Cobbold, L., Cohen, S., Custodio, H. M., Drummond-Borg, M., Elmslie, F., Finanger, E., Hainline, B. E., Helbig, I., Hewson, S., Hu, Y., Jackson, A., Josifova, D., Konstantino, M., Leach, M. E., Mak, B., McCormick, D., McGee, E., Nelson, S., Nguyen, J., Nugent, K., Ortega, L., Goodkin, H. P., Roeder, E., Roy, S., Sapp, K., Saade, D., Sisodiya, S. M., Stals, K., Towner, S., Wilson, W., Khokha, M. K., Bönnemann, C. G., Lucas, C. L., Lakhani, S. A.
مصطلحات موضوعية: Creld1, developmental delay, epilepsy, hypotonia
العلاقة: https://linkinghub.elsevier.com/retrieve/pii/S1098-3600Test(23)01039-0; Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier JM, et al. Biallelic CRELD1 variants cause a multisystem syndrome including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections. Genetics in medicine : official journal of the American College of Medical Genetics. 2023:101023.; Genetics in medicine; https://hdl.handle.net/11287/623073Test
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3دورية أكاديمية
المؤلفون: Alharatani, R, Ververi, A, Beleza-Meireles, A, Ji, W, Mis, E, Patterson, QT, Griffin, JN, Bhujel, N, Chang, CA, Dixit, A, Konstantino, M, Healy, C, Hannan, S, Neo, N, Cash, A, Li, D, Bhoj, E, Zackai, EH, Cleaver, R, Baralle, D, McEntagart, M, Newbury-Ecob, R, Scott, R, Hurst, JA, Au, PYB, Hosey, MT, Khokha, M, Marciano, DK, Lakhani, SA, Liu, KJ
وصف الملف: application/pdf
العلاقة: https://openaccess.sgul.ac.uk/id/eprint/112552/1/ddaa050.pdfTest; Alharatani, R; Ververi, A; Beleza-Meireles, A; Ji, W; Mis, E; Patterson, QT; Griffin, JN; Bhujel, N; Chang, CA; Dixit, A; et al. Alharatani, R; Ververi, A; Beleza-Meireles, A; Ji, W; Mis, E; Patterson, QT; Griffin, JN; Bhujel, N; Chang, CA; Dixit, A; Konstantino, M; Healy, C; Hannan, S; Neo, N; Cash, A; Li, D; Bhoj, E; Zackai, EH; Cleaver, R; Baralle, D; McEntagart, M; Newbury-Ecob, R; Scott, R; Hurst, JA; Au, PYB; Hosey, MT; Khokha, M; Marciano, DK; Lakhani, SA; Liu, KJ (2020) Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome. Hum Mol Genet, 29 (11). pp. 1900-1921. ISSN 1460-2083 https://doi.org/10.1093/hmg/ddaa050Test SGUL Authors: McEntagart, Meriel
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4دورية أكاديمية
المؤلفون: Brumberg, H L, Kowalski, L, Troxell-Dorgan, A, Gettner, P, Konstantino, M, Poulsen, J F, Ehrenkranz, R A
المصدر: Journal of Perinatology ; volume 30, issue 8, page 517-521 ; ISSN 0743-8346 1476-5543
مصطلحات موضوعية: Obstetrics and Gynecology, Pediatrics, Perinatology and Child Health
الإتاحة: https://doi.org/10.1038/jp.2010.10Test
https://www.nature.com/articles/jp201010.pdfTest
https://www.nature.com/articles/jp201010Test -
5دورية أكاديمية
المؤلفون: Brumberg HL, Kowalski L, Troxell-Dorgan A, Gettner P, Konstantino M, Poulsen JF, Ehrenkranz RA
المصدر: Journal of Perinatology; Aug2010, Vol. 30 Issue 8, p517-521, 5p