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1دورية أكاديمية
المؤلفون: Ng B. G., Dastsooz H., Silawi M., Habibzadeh P., Jahan S. B., Fard M. A. F., Halliday B. J., Raymond K., Ruzhnikov M. R. Z., Tabatabaei Z., Taghipour-Sheshdeh A., Brimble E., Robertson S. P., Faghihi M. A., Freeze H. H.
المساهمون: Ng B.G., Dastsooz H., Silawi M., Habibzadeh P., Jahan S.B., Fard M.A.F., Halliday B.J., Raymond K., Ruzhnikov M.R.Z., Tabatabaei Z., Taghipour-Sheshdeh A., Brimble E., Robertson S.P., Faghihi M.A., Freeze H.H.
مصطلحات موضوعية: congenital disorders of glycosylation, core fucosylation, mass spectrometry, N-glycan, whole exome sequencing, Female, Fucose, Fucosyltransferase, Human, Male, Phenotype, Polysaccharide
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32049367; info:eu-repo/semantics/altIdentifier/wos/WOS:000552030200022; volume:43; issue:4; firstpage:871; lastpage:879; numberofpages:9; journal:JOURNAL OF INHERITED METABOLIC DISEASE; http://hdl.handle.net/2318/1800478Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85087848423
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2دورية أكاديمية
المؤلفون: Bryant L., Li D., Cox S. G., Marchione D., Joiner E. F., Wilson K., Janssen K., Lee P., March M. E., Nair D., Sherr E., Fregeau B., Wierenga K. J., Wadley A., Mancini G. M. S., Powell-Hamilton N., van de Kamp J., Grebe T., Dean J., Ross A., Crawford H. P., Powis Z., Cho M. T., Willing M. C., Manwaring L., Schot R., Nava C., Afenjar A., Lessel D., Wagner M., Klopstock T., Winkelmann J., Catarino C. B., Retterer K., Schuette J. L., Innis J. W., Pizzino A., Luttgen S., Denecke J., Strom T. M., Monaghan K. G., Yuan Z. -F., Dubbs H., Bend R., Lee J. A., Lyons M. J., Hoefele J., Gunthner R., Reutter H., Keren B., Radtke K., Sherbini O., Mrokse C., Helbig K. L., Odent S., Cogne B., Mercier S., Bezieau S., Besnard T., Kury S., Redon R., Reinson K., Wojcik M. H., Ounap K., Ilves P., Innes A. M., Kernohan K. D., Costain G., Meyn M. S., Chitayat D., Zackai E., Lehman A., Kitson H., Martin M. G., Martinez-Agosto J. A., Nelson S. F., Palmer C. G. S., Papp J. C., Parker N. H., Sinsheimer J. S., Vilain E., Wan J., Yoon A. J., Zheng A., Brimble E., Ferrero G. B., Radio F. C., Carli D., Barresi S., Brusco A., Tartaglia M., Thomas J. M., Umana L., Weiss M. M., Gotway G., Stuurman K. E., Thompson M. L., McWalter K., Stumpel C. T. R. M., Stevens S. J. C., Stegmann A. P. A., Tveten K., Vollo A., Prescott T., Fagerberg C., Laulund L. W., Larsen M. J., Byler M., Lebel R. R., Hurst A. C., Schrier Vergano S. A., Norman J., Mercimek-Andrews S., Neira J., Van Allen M. I., Longo N., Sellars E., Louie R. J., Cathey S. S., Brokamp E., Heron D., Snyder M., Vanderver A., Simon C., de la Cruz X., Padilla N., Crump J. G., Chung W., Garcia B., Hakonarson H. H., Bhoj E. J.
المساهمون: Bryant L., Li D., Cox S.G., Marchione D., Joiner E.F., Wilson K., Janssen K., Lee P., March M.E., Nair D., Sherr E., Fregeau B., Wierenga K.J., Wadley A., Mancini G.M.S., Powell-Hamilton N., van de Kamp J., Grebe T., Dean J., Ross A., Crawford H.P., Powis Z., Cho M.T., Willing M.C., Manwaring L., Schot R., Nava C., Afenjar A., Lessel D., Wagner M., Klopstock T., Winkelmann J., Catarino C.B., Retterer K., Schuette J.L., Innis J.W., Pizzino A., Luttgen S., Denecke J., Strom T.M., Monaghan K.G., Yuan Z.-F., Dubbs H., Bend R., Lee J.A., Lyons M.J., Hoefele J., Gunthner R., Reutter H., Keren B., Radtke K., Sherbini O., Mrokse C., Helbig K.L., Odent S., Cogne B., Mercier S., Bezieau S., Besnard T., Kury S., Redon R., Reinson K., Wojcik M.H., Ounap K., Ilves P., Innes A.M., Kernohan K.D., Costain G., Meyn M.S., Chitayat D., Zackai E., Lehman A., Kitson H., Martin M.G., Martinez-Agosto J.A., Nelson S.F., Palmer C.G.S., Papp J.C., Parker N.H., Sinsheimer J.S., Vilain E., Wan J., Yoon A.J., Zheng A., Brimble E., Ferrero G.B., Radio F.C., Carli D., Barresi S., Brusco A., Tartaglia M., Thomas J.M., Umana L., Weiss M.M., Gotway G., Stuurman K.E., Thompson M.L., McWalter K., Stumpel C.T.R.M., Stevens S.J.C.
مصطلحات موضوعية: histone, neurodevelopmental disorder, progressive neurologic dysfunction, congenital anomalies, cancer mutation
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33268356; info:eu-repo/semantics/altIdentifier/wos/WOS:000596477400029; volume:6; issue:49; firstpage:1; lastpage:11; numberofpages:11; journal:SCIENCE ADVANCES; http://hdl.handle.net/2318/1764207Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85097125370; https://advances.sciencemag.org/content/6/49/eabc9207Test
الإتاحة: https://doi.org/10.1126/sciadv.abc9207Test
http://hdl.handle.net/2318/1764207Test
https://advances.sciencemag.org/content/6/49/eabc9207Test -
3دورية أكاديمية
المؤلفون: Rice G. I., Park S., Gavazzi F., Adang L. A., Ayuk L. A., Van Eyck L., Seabra L., Barrea C., Battini R., Belot A., Berg S., Billette de Villemeur T., Bley A. E., Blumkin L., Boespflug-Tanguy O., Briggs T. A., Brimble E., Dale R. C., Darin N., Debray F. -G., De Giorgis V., Denecke J., Doummar D., Drake af Hagelsrum G., Eleftheriou D., Estienne M., Fazzi E., Feillet F., Galli J., Hartog N., Harvengt J., Heron B., Heron D., Kelly D. A., Lev D., Levrat V., Livingston J. H., Marti I., Mignot C., Mochel F., Nougues M. -C., Oppermann I., Perez-Duenas B., Popp B., Rodero M. P., Rodriguez D., Saletti V., Sharpe C., Tonduti D., Vadlamani G., Van Haren K., Tomas Vila M., Vogt J., Wassmer E., Wiedemann A., Wilson C. J., Zerem A., Zweier C., Zuberi S. M., Orcesi S., Vanderver A. L., Hur S., Crow Y. J.
المساهمون: Rice, G. I., Park, S., Gavazzi, F., Adang, L. A., Ayuk, L. A., Van Eyck, L., Seabra, L., Barrea, C., Battini, R., Belot, A., Berg, S., Billette de Villemeur, T., Bley, A. E., Blumkin, L., Boespflug-Tanguy, O., Briggs, T. A., Brimble, E., Dale, R. C., Darin, N., Debray, F. -G., De Giorgis, V., Denecke, J., Doummar, D., Drake af Hagelsrum, G., Eleftheriou, D., Estienne, M., Fazzi, E., Feillet, F., Galli, J., Hartog, N., Harvengt, J., Heron, B., Heron, D., Kelly, D. A., Lev, D., Levrat, V., Livingston, J. H., Marti, I., Mignot, C., Mochel, F., Nougues, M. -C., Oppermann, I., Perez-Duenas, B., Popp, B., Rodero, M. P., Rodriguez, D., Saletti, V., Sharpe, C., Tonduti, D., Vadlamani, G., Van Haren, K., Tomas Vila, M., Vogt, J., Wassmer, E., Wiedemann, A., Wilson, C. J., Zerem, A., Zweier, C., Zuberi, S. M., Orcesi, S., Vanderver, A. L., Hur, S., Crow, Y. J.
مصطلحات موضوعية: Aicardi–Goutières syndrome, IFIH1, MDA5, Singleton Merten syndrome, Type I interferonopathy
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31898846; info:eu-repo/semantics/altIdentifier/wos/WOS:000506940000001; volume:41; issue:4; firstpage:837; lastpage:849; numberofpages:13; journal:HUMAN MUTATION; http://hdl.handle.net/11568/1071295Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85078038174
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4دورية أكاديمية
المؤلفون: Brimble, E., Beek, G., Wilson, L., Muirhead, K., Reichert, S., Berk, A.
المصدر: Value in Health ; volume 24, page S211 ; ISSN 1098-3015
مصطلحات موضوعية: Public Health, Environmental and Occupational Health, Health Policy
الإتاحة: https://doi.org/10.1016/j.jval.2021.04.1059Test
https://api.elsevier.com/content/article/PII:S1098301521012766?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098301521012766?httpAccept=text/plainTest -
5دورية أكاديمية
المؤلفون: Rice, G, Park, S, Gavazzi, F, Adang, LA, Ayuk, LA, Van Eyck, L, Seabra, L, Barrea, C, Battini, R, Belot, A, Berg, S, de Villemeur, TB, Bley, AE, Blumkin, L, Boespflug-Tanguy, O, Briggs, TA, Brimble, E, Dale, RC, Darin, N, Debray, F-G, De Giorgis, V, Denecke, J, Doummar, D, af Hagelsrum, GD, Eleftheriou, D, Estienne, M, Fazzi, E, Feillet, F, Galli, J, Hartog, N, Harvengt, J, Heron, B, Heron, D, Kelly, DA, Lev, D, Levrat, V, Livingston, JH, Marti, I, Mignot, C, Mochel, F, Nougues, M-C, Oppermann, I, Perez-Duenas, B, Popp, B, Rodero, MP, Rodriguez, D, Saletti, V, Sharpe, C, Tonduti, D, Vadlamani, G, Van Haren, K, Vila, MT, Vogt, J, Wassmer, E, Wiedemann, A, Wilson, CJ, Zerem, A, Zweier, C, Zuberi, SM, Orcesi, S, Vanderver, AL, Hur, S, Crow, YJ
المصدر: Human Mutation (2020) (In press).
مصطلحات موضوعية: Aicardi–Goutières syndrome, IFIH1, MDA5, Singleton Merten syndrome, Type I interferonopathy
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10090388/1/Rice_et_al-2020-Human_Mutation.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10090388Test/
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6دورية أكاديمية
المؤلفون: Calpena, E., Hervieu, A., Kaserer, T., Swagemakers, S.M.A. (Sigrid), Goos, J.A.C. (Jacqueline), Popoola, O., Ortiz-Ruiz, M.J., Barbaro-Dieber, T., Bownass, L., Brilstra, EH, Brimble, E., Foulds, N., Grebe, T.A., Harder, A.V.E., Lees, M.M. (Melissa), Monaghan, K. G., Newbury-Ecob, R.A., Ong, K.-R. (Kai-Ren), Osio, D., Santos, F.J.R., Ruzhnikov, M.R.Z., Telegrafi, A., Binsbergen, E. (Ellen) van, Van Dooren, B. (Bas) van, Spek, P.J. (Peter) van der, Blagg, J., Twigg, S.R.F. (Stephen), Mathijssen, I.M.J. (Irene), Clarke, P.A. (Paul), Wilkie, A.O.M. (Andrew)
المصدر: American Journal of Human Genetics vol. 104 no. 4, pp. 709-720
مصطلحات موضوعية: CDK8, kinase, Mediator complex, hypotonia, de novo mutation, intellectual disability, behavioral disorder, congenital heart disease, dominant negative, Mediator kinase modulopathy
وصف الملف: application/pdf
العلاقة: http://repub.eur.nl/pub/116335Test; urn:hdl:1765/116335
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7دورية أكاديمية
المؤلفون: Berkovic, SF, Goldstein, DB, Heinzen, EL, Laughlin, BL, Lowenstein, DH, Lubbers, L, Stewart, R, Whittemore, V, Angione, K, Bazil, CW, Bier, L, Bluvstein, J, Brimble, E, Campbell, C, Cavalleri, G, Chambers, C, Choi, H, Cilio, MR, Ciliberto, M, Cornes, S, Delanty, N, Demarest, S, Devinsky, O, Dlugos, D, Dubbs, H, Dugan, P, Ernst, ME, Gibbons, M, Goodkin, HP, Helbig, I, Jansen, L, Johnson, K, Joshi, C, Lippa, NC, Marsh, E, Martinez, A, Millichap, J, Mulhern, MS, Numis, A, Park, K, Pippucci, T, Poduri, A, Porter, B, Regan, B, Sands, TT, Scheffer, IE, Schreiber, JM, Sheidley, B, Singhal, N, Smith, L, Sullivan, J, Taylor, A, Tolete, P, Afgani, TM, Aggarwal, V, Burgess, R, Dixon-Salazar, T, Hemati, P, Milder, J, Petrovski, S, Revah-Politi, A, Stong, N
العلاقة: Berkovic, S. F., Goldstein, D. B., Heinzen, E. L., Laughlin, B. L., Lowenstein, D. H., Lubbers, L., Stewart, R., Whittemore, V., Angione, K., Bazil, C. W., Bier, L., Bluvstein, J., Brimble, E., Campbell, C., Cavalleri, G., Chambers, C., Choi, H., Cilio, M. R., Ciliberto, M. ,. Stong, N. (2019). The Epilepsy Genetics Initiative: Systematic reanalysis of diagnostic exomes increases yield. EPILEPSIA, 60 (5), pp.797-806. https://doi.org/10.1111/epi.14698Test.; http://hdl.handle.net/11343/248203Test
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8دورية أكاديمية
المؤلفون: Reynhout, S., Jansen, S., Haesen, D., van Belle, S., de Munnik, S.A., Bongers, E.M.H.F., Schieving, J.H., Marcelis, C.L., Amiel, J., Rio, M., Mclaughlin, H., Ladda, R., Sell, S., Kriek, M., Peeters-Scholte, C.M.P.C.D., Terhal, P.A., van Gassen, K.L., Verbeek, N., Henry, S., Scott Schwoerer, J., Malik, S., Revencu, N., Ferreira, C.R., Macnamara, E., Braakman, H.M.H., Brimble, E., Ruznikov, M.R.Z., Wagner, M., Harrer, P-, Wieczorek, D., Kuechler, A., Tziperman, B., Barel, O., de Vries, B.B.A., Gordon, C.T., Janssens, V., Vissers, L.E.L.M.
المصدر: Am. J. Hum. Genet. 104, 139-156 (2019)
مصطلحات موضوعية: De Novo Mutation, Epilepsy, Intellectual Disability, Pp2a, Pp2a-related Neurodevelopmental Disorders, Ppp2ca, Syndrome
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30595372; info:eu-repo/semantics/altIdentifier/wos/WOS:000454775500013; info:eu-repo/semantics/altIdentifier/isbn/0002-9297; info:eu-repo/semantics; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=55074Test; urn:isbn:0002-9297; urn:issn:0002-9297; urn:issn:1537-6605
الإتاحة: https://doi.org/10.1016/j.ajhg.2018.12.002Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=55074Test -
9دورية أكاديمية
المؤلفون: Berkovic, SF, Dixon-Salazar, T, Goldstein, DB, Heinzen, EL, Laughlin, BL, Lowenstein, DH, Lubbers, L, Milder, J, Stewart, R, Whittemore, V, Angione, K, Bazil, CW, Bier, L, Bluvstein, J, Brimble, E, Campbell, C, Chambers, C, Choi, H, Cilio, MR, Ciliberto, M, Cornes, S, Delanty, N, Demarest, S, Devinsky, O, Dlugos, D, Dubbs, H, Dugan, P, Ernst, ME, Gallentine, W, Gibbons, M, Goodkin, H, Grinton, B, Helbig, I, Jansen, L, Johnson, K, Joshi, C, Lippa, NC, Makati, MA, Marsh, E, Martinez, A, Millichap, J, Moskovich, Y, Mulhern, MS, Numis, A, Park, K, Poduri, A, Porter, B, Sands, TT, Scheffer, IE, Sheidley, B, Singhal, N, Smith, L, Sullivan, J, Riviello, JJ, Taylor, A, Tolete, P
العلاقة: pii: S1098-3600(21)01893-1; Berkovic, S. F., Dixon-Salazar, T., Goldstein, D. B., Heinzen, E. L., Laughlin, B. L., Lowenstein, D. H., Lubbers, L., Milder, J., Stewart, R., Whittemore, V., Angione, K., Bazil, C. W., Bier, L., Bluvstein, J., Brimble, E., Campbell, C., Chambers, C., Choi, H., Cilio, M. R. ,. Tolete, P. (2018). De novo variants in the alternative exon 5 of SCN8A cause epileptic encephalopathy. GENETICS IN MEDICINE, 20 (2), pp.275-281. https://doi.org/10.1038/gim.2017.100Test.; http://hdl.handle.net/11343/220823Test
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10دورية أكاديمية
المؤلفون: Franken, G.A.C., Müller, D., Mignot, C., Keren, B., Lévy, J., Tabet, A.C., Germanaud, D., Tejada, M.I., Kroes, H.Y., Nievelstein, R.A., Brimble, E., Ruzhnikov, M., Claverie-Martin, F., Szczepańska, M., Ćuk, M., Latta, F., Konrad, M., Martínez-Cruz, L.A., Bindels, R.J.M., Hoenderop, J.G.J., Schlingmann, K.P., Baaij, J.H.F. de
المصدر: Human Mutation, 42, 4, pp. 473-486
مصطلحات موضوعية: Radboudumc 11: Renal disorders RIMLS: Radboud Institute for Molecular Life Sciences
العلاقة: https://repository.ubn.ru.nl//bitstream/handle/2066/238837/238837.pdfTest; https://repository.ubn.ru.nl/handle/2066/238837Test; https://doi.org/10.1002/humu.24182Test
الإتاحة: https://doi.org/10.1002/humu.24182Test
https://repository.ubn.ru.nl//bitstream/handle/2066/238837/238837.pdfTest
https://repository.ubn.ru.nl/handle/2066/238837Test
النص الكامل