المؤلفون: Nolan, D.K., Pastore, M.T., McBride, K.L.

المصدر: European Journal of Medical Genetics ; volume 65, issue 8, page 104558 ; ISSN 1769-7212

الاتاحة: http://dx.doi.org/10.1016/j.ejmg.2022.104558
https://api.elsevier.com/content/article/PII:S1769721222001392?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1769721222001392?httpAccept=text/plain

المؤلفون: Weerts, M.J.A., Lanko, K., Guzmán-Vega, F.J., Jackson, A., Ramakrishnan, R., Cardona-Londoño, K.J., Peña-Guerra, K.A., Bever, Y. Van, Paassen, B.W. van, Kievit, A., Slegtenhorst, M. van, Allen, N.M., Kehoe, C.M., Robinson, H.K., Pang, L., Banu, S.H., Zaman, M., Efthymiou, S., Houlden, H., Järvelä, I., Lauronen, L., Määttä, T., Schrauwen, I., Leal, S.M., Ruivenkamp, C.A.L., Barge-Schaapveld, D., Peeters-Scholte, C., Galehdari, H., Mazaheri, N., Sisodiya, S.M., Harrison, V., Sun, A., Thies, J., Pedroza, L.A., Lara-Taranchenko, Y., Chinn, I.K., Lupski, J.R., Garza-Flores, A., McGlothlin, J., Yang, L., Huang, S., Wang, X, Jewett, T., Rosso, G., Lin, X., Mohammed, S, Merritt, J.L., 2nd, Mirzaa, G.M., Timms, A.E., Scheck, J., Elting, M.W., Polstra, A.M., Schenck, L., Ruzhnikov, M.R.Z., Vetro, A., Montomoli, M., Guerrini, R., Koboldt, D.C., Mosher, T.M., Pastore, M.T., McBride, K.L., Peng, J., Pan, Z., Willemsen, M.H., Koning, S. de, Turnpenny, P.D., Vries, B.B. de, Gilissen, C., Pfundt, R.P., Lees, M., Braddock, S.R., Klemp, K.C., Vansenne, F., Gijn, M.E. van, Quindipan, C., Deardorff, M.A., Hamm, J.A., Putnam, A.M., Baud, R., Walsh, L., Lynch, S.A., Baptista, J., Person, R.E., Monaghan, K.G., Crunk, A., Keller-Ramey, J., Reich, A., Elloumi, H.Z., Alders, M., Kerkhof, J., McConkey, H., Haghshenas, S., Maroofian, R., Sadikovic, B., Banka, S., Arold, Stefan T., Barakat, T.S.

المصدر: Genetics in Medicine, 23, 11, pp. 2122-2137

مصطلحات موضوعية: Radboudumc 6: Metabolic Disorders RIMLS: Radboud Institute for Molecular Life Sciences, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience

Relation: https://repository.ubn.ru.nl//bitstream/handle/2066/243955/243955.pdf; https://repository.ubn.ru.nl/handle/2066/243955; https://doi.org/10.1038/s41436-021-01246-2

الاتاحة: https://repository.ubn.ru.nl//bitstream/handle/2066/243955/243955.pdf
https://repository.ubn.ru.nl/handle/2066/243955
https://doi.org/10.1038/s41436-021-01246-2

المؤلفون: Theisen, A., Rosenfeld, J.A., Shane, K., McBride, K.L., Atkin, J.F., Gaba, C., Hoo, J., Kurczynski, T.W., Schnur, R.E., Coffey, L.B., Zackai, E.H., Schimmenti, L., Friedman, N., Zabukovec, M., Ball, S., Pagon, R., Lucas, A., Brasington, C.K., Spence, J.E., Sparks, S., Banks, V., Smith, W., Friedberg, T., Wyatt, P.R., Aust, M., Tervo, R., Crowley, A., Skidmore, D., Lamb, A.N., Ravnan, B., Sahoo, T., Schultz, R., Torchia, B.S., Sgro, M., Chitayat, D., Shaffer, L.G.

المصدر: Molecular Syndromology ; volume 1, issue 5, page 262-271 ; ISSN 1661-8769 1661-8777

الاتاحة: http://dx.doi.org/10.1159/000328405
https://www.karger.com/Article/Pdf/328405

المؤلفون: Flanigan, K.M., Simmons, T.R., McBride, K.L., Kunkler, K.L., Alyward, S., Couce, M.L., Oreiro, M.T., Smith, N.J.C., Jaensch, L., Fuller, M., Ruiz, J., Truxal, K.V.

المصدر: Molecular Genetics and Metabolism ; volume 126, issue 2, page S54 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2018.12.122
https://api.elsevier.com/content/article/PII:S1096719218309041?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1096719218309041?httpAccept=text/plain

المؤلفون: Flanigan, K.M., Truxal, K.V., McBride, K.L., McNally, K.A., Kunkler, K.L., Zumberge, N.A., Martin, L., Aylward, S., Corridore, M., Ruiz, Juan, McKee, C., McCarty, D., Simmons, T.R.

المصدر: Molecular Genetics and Metabolism ; volume 123, issue 2, page S46 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2017.12.103
https://api.elsevier.com/content/article/PII:S1096719217308788?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1096719217308788?httpAccept=text/plain

المؤلفون: Talavera, M.M., Jin, Y., Zmuda, E.J., Frick, J., Liu, Y., McBride, K.L., Nelin, L.D., Trittmann, J.K.

المصدر: Journal of Neonatal - Perinatal Medicine; 2020, Vol. 13 Issue 3, p373-380, 8p

مصطلحات موضوعية: SINGLE nucleotide polymorphisms, PREMATURE infants, ENTEROCOLITIS, MITOGEN-activated protein kinases, GENES, INFLAMMATION, WEIGHT in infancy

المؤلفون: Truxal, K.V.^1,2,3, Fu, H.^1,3, McCarty, D.M.^1,3, McNally, K.A.^3,4,5, Kunkler, K.L.¹, Zumberge, N.A.^6,7, Martin, L.^6,7, Aylward, S.C.^8,9, Alfano, L.N.¹, Berry, K.M.¹, Lowes, L.P.¹, Corridore, M.^10,11, McKee, C.¹⁰, McBride, K.L.^2,3,12, Flanigan, K.M.^1,3,8,9 kevin.flanigan@nationwidechildrens.org

المصدر: Molecular Genetics & Metabolism. Nov2016, Vol. 119 Issue 3, p239-248. 10p.

مصطلحات موضوعية: *SANFILIPPO syndrome, *CLINICAL trials, *HEPARAN sulfate, *CENTRAL nervous system diseases, *TRANSGENE expression