المؤلفون: Ferreira, CR, Xia, ZJ, Clement, A, Parry, DA, Davids, M, Taylan, F, Sharma, P, Turgeon, CT, Blanco-Sanchez, B, Ng, BG, Logan, CV, Wolfe, LA, Solomon, BD, Cho, MT, Douglas, G, Carvalho, DR, Bratke, H, Haug, MG, Phillips, JB, Wegner, J, Tiemeyer, M, Aoki, K, Nordgren, A, Hammarsjo, A, Duker, AL, Rohena, L, Hove, HB, Ek, J, Adams, D, Tifft, CJ, Onyekweli, T, Weixel, T, Macnamara, E, Radtke, K, Powis, Z, Earl, D, Gabriel, M, Russi, AHS, Brick, L, Kozenko, M, Tham, E, Raymond, KM, Phillips, JA, Tiller, GE, Wilson, WG, Hamid, R, Malicdan, MCV, Nishimura, G, Grigelioniene, G, Jackson, A, Westerfield, M, Bober, MB, Gahl, WA, Freeze, HH

المصدر: American journal of human genetics. 103(4):553-567

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:139252419

المؤلفون: Sheppard, SE, Bryant, L, Wickramasekara, RN, Vaccaro, C, Robertson, B, Hallgren, J, Hulen, J, Watson, CJ, Faundes, V, Duffourd, Y, Lee, P, Simon, MC, de la Cruz, X, Padilla, N, Flores-Mendez, M, Akizu, N, Smiler, J, Pellegrino Da Silva, R, Li, D, March, M, Diaz-Rosado, A, Peixoto de Barcelos, I, Choa, ZX, Lim, CY, Dubourg, C, Journel, H, Demurger, F, Mulhern, M, Akman, C, Lippa, N, Andrews, M, Baldridge, D, Constantino, J, van Haeringen, A, Snoeck-Streef, I, Chow, P, Hing, A, Graham, JM, Au, M, Faivre, L, Shen, W, Mao, R, Palumbos, J, Viskochil, D, Gahl, W, Tifft, C, Macnamara, E, Hauser, N, Miller, R, Maffeo, J, Afenjar, A, Doummar, D, Keren, B, Arn, P, Macklin-Mantia, S, Meerschaut, I, Callewaert, B, Reis, A, Zweier, C, Brewer, C, Saggar, A, Smeland, MF, Kumar, A, Elmslie, F, Deshpande, C, Nizon, M, Cogne, B, van Ierland, Y, Wilke, M, van Slegtenhorst, M, Koudijs, S, Chen, JY, Dredge, D, Pier, D, Wortmann, S, Kamsteeg, E-J, Koch, J, Haynes, D, Pollack, L, Titheradge, H, Ranguin, K, Denommé-Pichon, A-S, Weber, S, Pérez de la Fuente, R, Sánchez Del Pozo, J, Lezana Rosales, JM, Joset, P, Steindl, K, Rauch, A, Mei, D, Mari, F, Guerrini, R, Lespinasse, J, Tran Mau-Them, F, Philippe, C, Dauriat, B, Raymond, L, Moutton, S, Cueto-González, AM, Tan, TY, Mignot, C, Grotto, S, Renaldo, F, Drivas, TG, Hennessy, L, Raper, A, Parenti, I, Kaiser, FJ, Kuechler, A, Busk, ØL, Islam, L, Siedlik, JA, Henderson, LB, Juusola, J, Person, R, Schnur, RE, Vitobello, A, Banka, S, Bhoj, EJ, Stessman, HAF

وصف الملف: application/pdf; application/zip

Relation: https://openaccess.sgul.ac.uk/id/eprint/115477/1/sciadv.ade1463.pdf; https://openaccess.sgul.ac.uk/id/eprint/115477/6/sciadv.ade1463_sm.pdf; https://openaccess.sgul.ac.uk/id/eprint/115477/11/sciadv.ade1463_tables_s1_and_s5_to_s10.zip; Sheppard, SE; Bryant, L; Wickramasekara, RN; Vaccaro, C; Robertson, B; Hallgren, J; Hulen, J; Watson, CJ; Faundes, V; Duffourd, Y; et al. Sheppard, SE; Bryant, L; Wickramasekara, RN; Vaccaro, C; Robertson, B; Hallgren, J; Hulen, J; Watson, CJ; Faundes, V; Duffourd, Y; Lee, P; Simon, MC; de la Cruz, X; Padilla, N; Flores-Mendez, M; Akizu, N; Smiler, J; Pellegrino Da Silva, R; Li, D; March, M; Diaz-Rosado, A; Peixoto de Barcelos, I; Choa, ZX; Lim, CY; Dubourg, C; Journel, H; Demurger, F; Mulhern, M; Akman, C; Lippa, N; Andrews, M; Baldridge, D; Constantino, J; van Haeringen, A; Snoeck-Streef, I; Chow, P; Hing, A; Graham, JM; Au, M; Faivre, L; Shen, W; Mao, R; Palumbos, J; Viskochil, D; Gahl, W; Tifft, C; Macnamara, E; Hauser, N; Miller, R; Maffeo, J; Afenjar, A; Doummar, D; Keren, B; Arn, P; Macklin-Mantia, S; Meerschaut, I; Callewaert, B; Reis, A; Zweier, C; Brewer, C; Saggar, A; Smeland, MF; Kumar, A; Elmslie, F; Deshpande, C; Nizon, M; Cogne, B; van Ierland, Y; Wilke, M; van Slegtenhorst, M; Koudijs, S; Chen, JY; Dredge, D; Pier, D; Wortmann, S; Kamsteeg, E-J; Koch, J; Haynes, D; Pollack, L; Titheradge, H; Ranguin, K; Denommé-Pichon, A-S; Weber, S; Pérez de la Fuente, R; Sánchez Del Pozo, J; Lezana Rosales, JM; Joset, P; Steindl, K; Rauch, A; Mei, D; Mari, F; Guerrini, R; Lespinasse, J; Tran Mau-Them, F; Philippe, C; Dauriat, B; Raymond, L; Moutton, S; Cueto-González, AM; Tan, TY; Mignot, C; Grotto, S; Renaldo, F; Drivas, TG; Hennessy, L; Raper, A; Parenti, I; Kaiser, FJ; Kuechler, A; Busk, ØL; Islam, L; Siedlik, JA; Henderson, LB; Juusola, J; Person, R; Schnur, RE; Vitobello, A; Banka, S; Bhoj, EJ; Stessman, HAF (2023) Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Sci Adv, 9 (10). eade1463. ISSN 2375-2548 https://doi.org/10.1126/sciadv.ade1463 SGUL Authors: Elmslie, Frances

الاتاحة: https://openaccess.sgul.ac.uk/id/eprint/115477/
https://openaccess.sgul.ac.uk/id/eprint/115477/1/sciadv.ade1463.pdf
https://openaccess.sgul.ac.uk/id/eprint/115477/6/sciadv.ade1463_sm.pdf
https://openaccess.sgul.ac.uk/id/eprint/115477/11/sciadv.ade1463_tables_s1_and_s5_to_s10.zip
https://doi.org/10.1126/sciadv.ade1463

المؤلفون: Galosi, S., Edani, B.H., Martinelli, S., Hansikova, H., Eklund, E.A., Caputi, C., Masuelli, L., Corsten-Janssen, N., Srour, M., Oegema, R., Bosch, DGM, Ellis, C.A., Amlie-Wolf, L., Accogli, A., Atallah, I., Averdunk, L., Barañano, K.W., Bei, R., Bagnasco, I., Brusco, A., Demarest, S., Alaix, A.S., Di Bonaventura, C., Distelmaier, F., Elmslie, F., Gan-Or, Z., Good, J.M., Gripp, K., Kamsteeg, E.J., Macnamara, E., Marcelis, C., Mercier, N., Peeden, J., Pizzi, S., Pannone, L., Shinawi, M., Toro, C., Verbeek, N.E., Venkateswaran, S., Wheeler, P.G., Zdrazilova, L., Zhang, R., Zorzi, G., Guerrini, R., Sessa, W.C., Lefeber, D.J., Tartaglia, M., Hamdan, F.F., Grabińska, K.A., Leuzzi, V.

المصدر: Brain, vol. 145, no. 1, pp. 208-223

مصطلحات موضوعية: Alkyl and Aryl Transferases, Child, Dolichols/metabolism, Humans, Myoclonus, Neurodegenerative Diseases/genetics, Retinitis Pigmentosa/genetics, congenital disorders of glycosylation, dolichol, movement disorder, myoclonus epilepsy, neurodegenerative disorder

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/34382076; info:eu-repo/semantics/altIdentifier/eissn/1460-2156; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_49C7D80FE3EC1; https://serval.unil.ch/notice/serval:BIB_49C7D80FE3EC; https://serval.unil.ch/resource/serval:BIB_49C7D80FE3EC.P001/REF.pdf

الاتاحة: https://serval.unil.ch/notice/serval:BIB_49C7D80FE3EC
https://doi.org/10.1093/brain/awab299
https://serval.unil.ch/resource/serval:BIB_49C7D80FE3EC.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_49C7D80FE3EC1

المؤلفون: Chen, Y., Dawes, R., Kim, H. C., Ljungdahl, A., Stenton, S. L., Walker, S., Lord, J., Lemire, G., Martin-Geary, A. C., Ganesh, V. S., Ma, J., Ellingford, J. M., Delage, E., D'Souza, E. N., Dong, S., Adams, D. R., Allan, K., Bakshi, M., Baldwin, E. E., Berger, S. I., Bernstein, J. A., Bhatnagar, I., Blair, E., Brown, N. J., Burrage, L. C., Chapman, K., Coman, D. J., Compton, A. G., Cunningham, C. A., D'Souza, P., Danecek, P., Délot, E. C., Dias, K. R., Elias, E. R., Elmslie, F., Evans, C. A., Ewans, L., Ezell, K., Fraser, J. L., Gallacher, L., Genetti, C. A., Goriely, A., Grant, C. L., Haack, T., Higgs, J. E., Hinch, A. G., Hurles, M. E., Kuechler, A., Lachlan, K. L., Lalani, S. R., Lecoquierre, F., Leitão, E., Fevre, A. L., Leventer, R. J., Liebelt, J. E., Lindsay, S., Lockhart, P. J., Ma, A. S., Macnamara, E. F., Mansour, S., Maurer, T. M., Mendez, H. R., Metcalfe, K., Montgomery, S. B., Moosajee, M., Nassogne, M. C., Neumann, S., O'Donoghue, M., O'Leary, M., Palmer, E. E., Pattani, N., Phillips, J., Pitsava, G., Pysar, R., Rehm, H. L., Reuter, C. M., Revencu, N., Riess, A., Rius, R., Rodan, L., Roscioli, T., Rosenfeld, J. A., Sachdev, R., Shaw-Smith, C. J., Simons, C., Sisodiya, S. M., Snell, P., St Clair, L., Stark, Z., Stewart, H. S., Tan, T. Y., Tan, N. B., Temple, S. E. L., Thorburn, D. R., Tifft, C. J., Uebergang, E., VanNoy, G. E., Vasudevan, P., Vilain, E., Viskochil, D. H., Wedd, L., Wheeler, M. T., White, S. M., Wojcik, M., Wolfe, L. A., Wolfenson, Z., Wright, C. F., Xiao, C., Zocche, D., Rubenstein, J. L., Markenscoff-Papadimitriou, E., Fica, S. M., Baralle, D., Depienne, C., MacArthur, D. G., Howson, J. M. M., Sanders, S. J., O'Donnell-Luria, A., Whiffin, N.

المساهمون: Department of Clinical Genetics, Shaw-Smith, Charles J

مصطلحات موضوعية: Adolescent, Child, Preschool, Female, Humans, Infant, Male, Young Adult, Alleles, Brain/growth & development/metabolism, Heterozygote, Mutation, Neurodevelopmental Disorders/genetics, RNA Splice Sites/genetics, RNA, Small Nuclear/genetics, Spliceosomes/genetics, Syndrome, Rare Diseases/genetics, Gene Expression Regulation, Developmental

Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/38991538/; Nature; https://hdl.handle.net/11287/623356

الاتاحة: https://hdl.handle.net/11287/623356
https://doi.org/10.1038/s41586-024-07773-7

المؤلفون: Sheppard, S.E., Bryant, L., Wickramasekara, R.N., Vaccaro, C., Robertson, B., Hallgren, J., Hulen, J., Watson, C.J., Faundes, V., Duffourd, Y., Lee, P., Simon, M.C., Cruz, X. de la, Padilla, N., Flores-Mendez, M., Akizu, N., Smiler, J., Pellegrino Da Silva, R., Li, D., March, M., Diaz-Rosado, A., Peixoto de Barcelos, I., Choa, Z.X., Lim, C.Y., Dubourg, C., Journel, H., Demurger, F., Mulhern, M., Akman, C., Lippa, N., Andrews, M., Baldridge, D., Constantino, J., Haeringen, A. van, Snoeck-Streef, I., Chow, P., Hing, A., Graham Jr, J.M., Au, M., Faivre, L., Shen, W., Mao, R., Palumbos, J., Viskochil, D., Gahl, W., Tifft, C., Macnamara, E., Hauser, N., Miller, R., Maffeo, J., Afenjar, A., Doummar, D., Keren, B., Arn, P., Macklin-Mantia, S., Meerschaut, I., Callewaert, B., Reis, A., Zweier, C., Brewer, C., Saggar, A., Smeland, M.F., Kumar, Ajith, Elmslie, F., Deshpande, C., Nizon, M., Cogne, B., Ierland, Y. van, Wilke, M., Slegtenhorst, M. van, Koudijs, S., Chen, J.Y., Dredge, D., Pier, D., Wortmann, S.B., Kamsteeg, E.J., Koch, J., Haynes, D., Pollack, L., Titheradge, H., Ranguin, K., Denommé-Pichon, A.S., Weber, S., Perez de la Fuente, R., Sanchez Del Pozo, J., Lezana Rosales, J.M., Joset, P., Steindl, K., Rauch, A., Mei, D., Mari, F., Guerrini, R., Lespinasse, J., Tran Mau-Them, F., Philippe, C., Dauriat, B., Raymond, L., Moutton, S., Cueto-González, A.M., Tan, T.Y., Mignot, C., Grotto, S., Renaldo, F., Drivas, T.G., Hennessy, L., Raper, A., Parenti, I., Kaiser, F.J., Kuechler, A., Busk, Ø.L., Islam, L., Siedlik, J.A., Henderson, L.B., Juusola, J., Person, R., Schnur, R.E., Vitobello, A., Banka, S., Bhoj, E.J., Stessman, H.A.F.

المصدر: Science Advances; 2375-2548; 10; 9; eade1463; ~Science Advances~~~~~2375-2548~10~9~~eade1463

URL: https://repository.ubn.ru.nl/handle/2066/290785

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

Relation: 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=55074; urn:isbn:0002-9297; urn:issn:0002-9297; urn:issn:1537-6605

الاتاحة: https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=55074
https://doi.org/10.1016/j.ajhg.2018.12.002

المؤلفون: Morleo M., Venditti R., Theodorou E., Briere L. C., Rosello M., Tirozzi A., Tammaro R., Al-Badri N., High F. A., Shi J., Acosta M. T., Adam M., Adams D. R., Alvarez R. L., Alvey J., Amendola L., Andrews A., Ashley E. A., Bacino C. A., Bademci G., Balasubramanyam A., Baldridge D., Bale J., Bamshad M., Barbouth D., Bayrak-Toydemir P., Beck A., Beggs A. H., Behrens E., Bejerano G., Bellen H. J., Bennett J., Berg-Rood B., Bernstein J. A., Berry G. T., Bican A., Bivona S., Blue E., Bohnsack J., Bonner D., Botto L., Boyd B., Brown G., Burke E. A., Burrage L. C., Butte M. J., Byers P., Byrd W. E., Carey J., Carrasquillo O., Cassini T., Chang T. C. P., Chanprasert S., Chao H. -T., Clark G. D., Coakley T. R., Cobban L. A., Cogan J. D., Coggins M., Cole F. S., Colley H. A., Cooper C. M., Cope H., Corona R., Craigen W. J., Crouse A. B., Cunningham M., D'Souza P., Dai H., Dasari S., Davis J., Dayal J. G., Dell'Angelica E. C., Dipple K., Doherty D., Dorrani N., Doss A. L., Douine E. D., Earl D., Eckstein D. J., Emrick L. T., Eng C. M., Falk M., Fieg E. L., Fisher P. G., Fogel B. L., Forghani I., Gahl W. A., Glass I., Gochuico B., Goddard P. C., Godfrey R. A., Golden-Grant K., Grajewski A., Hadley D., Hahn S., Halley M. C., Hamid R., Hassey K., Hayes N., High F., Hing A., Hisama F. M., Holm I. A., Hom J., Horike-Pyne M., Huang A., Hutchison S., Introne W., Isasi R., Izumi K., Jamal F., Jarvik G. P., Jarvik J., Jayadev S., Jean-Marie O., Jobanputra V., Karaviti L., Ketkar S., Kiley D., Kilich G., Kobren S. N., Kohane I. S., Kohler J. N., Korrick S., Kozuira M., Krakow D., Krasnewich D. M., Kravets E., Lalani S. R., Lam B., Lam C., Lanpher B. C., Lanza I. R., LeBlanc K., Lee B. H., Levitt R., Lewis R. A., Liu P., Liu X. Z., Longo N., Loo S. K., Loscalzo J., Maas R. L., Macnamara E. F., MacRae C. A., Maduro V. V., Maghiro A., Mahoney R., Malicdan M. C. V., Mamounas L. A., Manolio T. A., Mao R., Maravilla K., Marom R., Marth G., Martin B. A., Martin M. G., Martinez-Agosto J. A., Marwaha S., McCauley J., McConkie-Rosell A., McCray A. T., McGee E., Mefford H., Merritt J. L., Might M., Mirzaa G., Morava E., Moretti P., Mulvihill J., Nakano-Okuno M., Nelson S. F., Newman J. H., Nicholas S. K., Nickerson D., Nieves-Rodriguez S., Novacic D., Oglesbee D., Orengo J. P., Pace L., Pak S., Pallais J. C., Palmer C. G. S., Papp J. C., Parker N. H., Phillips III J. A., Posey J. E., Potocki L., Pusey Swerdzewski B. N., Quinlan A., Rao D. A., Raper A., Raskind W., Renteria G., Reuter C. M., Rives L., Robertson A. K., Rodan L. H., Rosenfeld J. A., Rosenwasser N., Rossignol F., Ruzhnikov M., Sacco R., Sampson J. B., Saporta M., Schaechter J., Schedl T., Schoch K., Scott D. A., Scott C. R., Shashi V., Shin J., Silverman E. K., Sinsheimer J. S., Sisco K., Smith E. C., Smith K. S., Solnica-Krezel L., Solomon B., Spillmann R. C., Stoler J. M., Sullivan K., Sullivan J. A., Sun A., Sutton S., Sweetser D. A., Sybert V., Tabor H. K., Tan Q. K. -G., Tan A. L. M., Tekin M., Telischi F., Thorson W., Tifft C. J., Toro C., Tran A. A., Ungar R. A., Urv T. K., Vanderver A., Velinder M., Viskochil D., Vogel T. P., Wahl C. E., Walker M., Wallace S., Walley N. M., Wambach J., Wan J., Wang L. -K., Wangler M. F., Ward P. A., Wegner D., Weisz Hubshman M., Wener M., Wenger T., Westerfield M., Wheeler M. T., Whitlock J., Wolfe L. A., Worley K., Xiao C., Yamamoto S., Yang J., Zhang Z., Zuchner S., Nigro V., Torella A., Spampanato C., Pinelli M., Banfi S., Varavallo A., Selicorni A., Mariani M., Massimello M., Daolio C., Capra V., Accogli A., Scala M., Leuzzi V., Nardecchia F., Galosi S., Mastrangelo M., Milani D., Vitiello G., Piluso G., Romano C., Failla P., Greco D., Pantaleoni C., Ciaccio C., D'Arrigo S., Brunetti Pierri N., Parenti G., Coppola A., Mattina T., Zollino M., Amenta S., Tummolo A., Santoro C., Grandone A., De Brasi D., Varone A., Garavelli L., Marini C., Bigoni S., Piscopo C., Trabacca A., De Rinaldis M., Peron A., Putti E., Ferrante L., Cetrangolo V., Walker M. A., Tenconi R., Iascone M., Mei D., Guerrini R., van der Smagt J., Kroes H. Y., van Gassen K. L. I., Bilal M., Umair M., Pingault V., Attie-Bitach T., Amiel J., Ejaz R., Rodan L., Agrawal P. B., Del Bene F., Franco B.

المساهمون: Morleo, M., Venditti, R., Theodorou, E., Briere, L. C., Rosello, M., Tirozzi, A., Tammaro, R., Al-Badri, N., High, F. A., Shi, J., Acosta, M. T., Adam, M., Adams, D. R., Alvarez, R. L., Alvey, J., Amendola, L., Andrews, A., Ashley, E. A., Bacino, C. A., Bademci, G., Balasubramanyam, A., Baldridge, D., Bale, J., Bamshad, M., Barbouth, D., Bayrak-Toydemir, P., Beck, A., Beggs, A. H., Behrens, E., Bejerano, G., Bellen, H. J., Bennett, J., Berg-Rood, B., Bernstein, J. A., Berry, G. T., Bican, A., Bivona, S., Blue, E., Bohnsack, J., Bonner, D., Botto, L., Boyd, B., Brown, G., Burke, E. A., Burrage, L. C., Butte, M. J., Byers, P., Byrd, W. E., Carey, J., Carrasquillo, O., Cassini, T., Chang, T. C. P., Chanprasert, S., Chao, H. -T., Clark, G. D., Coakley, T. R., Cobban, L. A., Cogan, J. D., Coggins, M., Cole, F. S., Colley, H. A., Cooper, C. M., Cope, H., Corona, R., Craigen, W. J., Crouse, A. B., Cunningham, M., D'Souza, P., Dai, H., Dasari, S., Davis, J., Dayal, J. G., Dell'Angelica, E. C., Dipple, K., Doherty, D., Dorrani, N., Doss, A. L., Douine, E. D., Earl, D., Eckstein, D. J., Emrick, L. T., Eng, C. M., Falk, M., Fieg, E. L., Fisher, P. G., Fogel, B. L., Forghani, I., Gahl, W. A., Glass, I., Gochuico, B., Goddard, P. C., Godfrey, R. A., Golden-Grant, K., Grajewski, A., Hadley, D., Hahn, S., Halley, M. C., Hamid, R., Hassey, K., Hayes, N.

مصطلحات موضوعية: PIP5K1C, de novo gain-of-function variant, developmental delay, endosome, intellectual disability, phosphatidylinositol 4,5 bisphosphate (PI(4,5)P(2)), phosphoinositide, zebrafish

Relation: info:eu-repo/semantics/altIdentifier/pmid/37451268; info:eu-repo/semantics/altIdentifier/wos/WOS:001052941700001; volume:110; issue:8; firstpage:1377; lastpage:1393; numberofpages:17; journal:AMERICAN JOURNAL OF HUMAN GENETICS; https://hdl.handle.net/11591/544390

الاتاحة: https://hdl.handle.net/11591/544390
https://doi.org/10.1016/j.ajhg.2023.06.012

المؤلفون: MacNamara, E. E.

المصدر: Limnology and Oceanography, 1970 Sep 01. 15(5), 768-775.

URL الوصول: https://www.jstor.org/stable/2834014

المؤلفون: Kennedy, J., Goudie, D., Blair, E., Chandler, K., Joss, S., McKay, V., Green, A., Armstrong, R., Lees, M., Kamien, B., Hopper, B., Tan, T.Y., Yap, P., Stark, Z., Okamoto, N., Miyake, N., Matsumoto, N., Macnamara, E., Murphy, J.L., McCormick, E., Hakonarson, H., Falk, M.J., Li, D., Blackburn, P., Klee, E., Babovic-Vuksanovic, D., Schelley, S., Hudgins, L., Kant, S., Isidor, B., Cogne, B., Bradbury, K., Williams, M., Patel, C., Heussler, H., Duff-Farrier, C., Lakeman, P., Scurr, I., Kini, U., Elting, M., Reijnders, M., Schuurs-Hoeijmakers, J., Wafik, M., Blomhoff, A., Ruivenkamp, C.A.L., Nibbeling, E., Dingemans, A.J.M., Douine, E.D., Nelson, S.F., Hempel, M., Bierhals, T., Lessel, D., Johannsen, J., Arboleda, V.A., Newbury-Ecob, R., DDD Study

المصدر: Genetics in Medicine, 22(11), 1920-1920. NATURE PUBLISHING GROUP

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::b215076ffb7ac5e70c346089be959f25
https://doi.org/10.1038/s41436-020-00944-7

المؤلفون: Blanco-Sánchez, B., Clément, A., Stednitz, S., Kyle, J., Peirce, J., McFadden, M., Wegner, J., Phillips, J., Macnamara, E., Huang, Y., Adams, D., Toro, C., Gahl, W., Malicdan, M., Tifft, C., Zink, E., Bloodsworth, K., Stratton, K., Koeller, D., Metz, T., Washbourne, P., Westerfield, M.

المصدر: PLoS Genetics

Relation: http://hdl.handle.net/21.11116/0000-0007-7185-3

الاتاحة: http://hdl.handle.net/21.11116/0000-0007-7185-3

المؤلفون: Thiffault, I, Hamel, N, Pal, T, McVety, S, Marcus, VA, Farber, D, Cowie, S, Deschênes, J, Meschino, W, Odefrey, F, Goldgar, D, Graham, T, Narod, S, Watters, AK, MacNamara, E, Du Sart, D, Chong, G, Foulkes, WD

Relation: pii: 6601424; Thiffault, I., Hamel, N., Pal, T., McVety, S., Marcus, V. A., Farber, D., Cowie, S., Deschênes, J., Meschino, W., Odefrey, F., Goldgar, D., Graham, T., Narod, S., Watters, A. K., MacNamara, E., Du Sart, D., Chong, G. & Foulkes, W. D. (2004). Germline truncating mutations in both MSH2 and BRCA2 in a single kindred. Br J Cancer, 90 (2), pp.483-491. https://doi.org/10.1038/sj.bjc.6601424.; http://hdl.handle.net/11343/306771

الاتاحة: http://hdl.handle.net/11343/306771

المؤلفون: Hutter, P, Wijnen, J, Rey-Berthod, C, Thiffault, I, Verkuijlen, P, Farber, D, Hamel, N, Bapat, B, Thibodeau, S N, Burn, J, Wu, J, MacNamara, E, Heinimann, K, Chong, G, Foulkes, W D

مصطلحات موضوعية: Original articles

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/39/5/323; http://dx.doi.org/10.1136/jmg.39.5.323

الاتاحة: http://jmg.bmj.com/cgi/content/short/39/5/323
https://doi.org/10.1136/jmg.39.5.323

المؤلفون: Foulkes, W.D., Thiffault, I., Gruber, S.B., Horwitz, M., Hamel, N., Lee, C., Shia, J., Markowitz, A., Figer, A., Friedman, E., Farber, D., Greenwood, C. M.T., Bonner, J.D., Nafa, K., Walsh, T., Marcus, V., Tomsho, L., Gebert, J., Macrae, F.A., Gaff, C.L., Paillerets, B. Bressac-de, Gregersen, P.K., Weitzel, J.N., Gordon, P.H., MacNamara, E., King, M.-C., Hampel, H., de la Chapelle, A., Boyd, J., Offit, K., Rennert, G., Chong, G., Ellis, N.A.

المصدر: The American Journal of Human Genetics ; volume 71, issue 6, page 1395-1412 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1086/345075
https://api.elsevier.com/content/article/PII:S000292970760860X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S000292970760860X?httpAccept=text/plain

المؤلفون: Brown, Edwina A., Davies, Simon J., Heimbürger, Olof, Meeus, Frederique, Mellotte, George, Rosman, Johan, Rutherford, Peter, Van Bree, Monique, Borras, M., Brown, E., Caillette–Beaudoin, A., Clutterbuck, E., Davies, S., D'Auzac, C., Ekstrand, A., Frandsen, N.E., Freida, P., Heimbürger, O., Kuypers+, D., Gasthuisberg+, A.Z., Mactier, R., MacNamara, E., Malmsten, G., Mastrangelo, F., Meeus, F., Melotte, G.J., Perez–Contreras, J., Riegel, W., Rodrigues, A.S., Rodriguez–Carmona, A., Rosman, J., Rutherford, P., Scanziani, R., Vega Diaz, N., Vychytil, A., Weinreich, T.

المصدر: Peritoneal Dialysis International: Journal of the International Society for Peritoneal Dialysis ; volume 21, issue 3_suppl, page 133-137 ; ISSN 0896-8608 1718-4304

الاتاحة: https://doi.org/10.1177/089686080102103s19
https://journals.sagepub.com/doi/pdf/10.1177/089686080102103S19
https://journals.sagepub.com/doi/full-xml/10.1177/089686080102103S19

المؤلفون: Kennedy, J, Goudie, D, Blair, E, Chandler, K, Joss, S, McKay, V, Green, A, Armstrong, R, Lees, M, Kamien, B, Hopper, B, Tan, TY, Yap, P, Stark, Z, Okamoto, N, Miyake, N, Matsumoto, N, Macnamara, E, Murphy, JL, McCormick, E, Hakonarson, H, Falk, MJ, Li, D, Blackburn, P, Klee, E, Babovic-Vuksanovic, D, Schelley, S, Hudgins, L, Kant, S, Isidor, B, Cogne, B, Bradbury, K, Williams, Monique, Patel, C, Heussler, H, Duff-Farrier, C, Lakeman, P, Scurr, I, Kini, U, Elting, M, Reijnders, Maarten, Schuurs-Hoeijmakers, J, Wafik, M, Blomhoff, A, Ruivenkamp, CAL, Nibbeling, E, Dingemans, AJM, Douine, ED, Nelson, SF, Arboleda, VA, Newbury-Ecob, R

المصدر: Kennedy , J , Goudie , D , Blair , E , Chandler , K , Joss , S , McKay , V , Green , A , Armstrong , R , Lees , M , Kamien , B , Hopper , B , Tan , TY , Yap , P , Stark , Z , Okamoto , N , Miyake , N , Matsumoto , N , Macnamara , E , Murphy , JL , McCormick , E , Hakonarson , H , Falk , MJ , Li , D , Blackburn , P , Klee , E ....

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM015401, name=EMC MM-01-54-01

الاتاحة: https://pure.eur.nl/en/publications/9fd2df6e-d13f-4bce-bb66-20ea0e87b031
https://doi.org/10.1038/s41436-018-0259-2

المؤلفون: Bendayan, M., Mardigyan, V., Williamson, D., Chen-Tournoux, A., Eintracht, S., Rudski, L., MacNamara, E., Blostein, M., Afilalo, M., Afilalo, J.

المصدر: Canadian Journal of Cardiology ; volume 34, issue 10, page S90-S91 ; ISSN 0828-282X

الاتاحة: http://dx.doi.org/10.1016/j.cjca.2018.07.274
https://api.elsevier.com/content/article/PII:S0828282X18307906?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0828282X18307906?httpAccept=text/plain

المؤلفون: Pagniez, D. C., MacNamara, E., Fortin, F., Delvallez, L., Fruchart, A., Dequiedt, P., Tacquet, A.

المصدر: BMJ: British Medical Journal, 1988 Nov 01. 297(6657), 1174-1175.

URL الوصول: https://www.jstor.org/stable/29701423

المؤلفون: Clayton-Greene, W. H., Cheatle, G. Lenthal, Craig, Maurice, Fawcett, John, Fripp, Alfred D., Herringham, W. P., Latham, Arthur, Lister, W. T., Macnamara, E. D., Pendlebury, Herbert S., Rigby, Hugh M., Russell, J. Risien, Smith, Lewis, Smith, R. Percy, Swainson, J. M. G., Thomson, H. Campbell, Turney, H. G.

المصدر: The British Medical Journal, 1910 Jan 01. 1(2558), 116-116.

URL الوصول: https://www.jstor.org/stable/25289201

المؤلفون: Parker, Rushton, Bowlan, Marcus M., Macnamara, E. D.

المصدر: The British Medical Journal, 1910 Jul . 2(2586), 233-233.

URL الوصول: https://www.jstor.org/stable/25291541

المؤلفون: MacNamara, E. E., Tedrow, J. C. F.

المصدر: Arctic, 1966 Jun 01. 19(2), 145-152.

URL الوصول: https://www.jstor.org/stable/40507313