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1دورية أكاديمية
المؤلفون: Paul, Maimuna S, Michener, Sydney L, Pan, Hongling, Chan, Hiuling, Pfliger, Jessica M, Rosenfeld, Jill A, Lerma, Vanesa C, Tran, Alyssa, Longley, Megan A, Lewis, Richard A, Weisz-Hubshman, Monika, Bekheirnia, Mir Reza, Bekheirnia, Nasim, Massingham, Lauren, Zech, Michael, Wagner, Matias, Engels, Hartmut, Cremer, Kirsten, Mangold, Elisabeth, Peters, Sophia, Trautmann, Jessica, Mester, Jessica L, Guillen Sacoto, Maria J, Person, Richard, McDonnell, Pamela P, Cohen, Stacey R, Lusk, Laina, Cohen, Ana SA, Le Pichon, Jean-Baptiste, Pastinen, Tomi, Zhou, Dihong, Engleman, Kendra, Racine, Caroline, Faivre, Laurence, Moutton, Sébastien, Denommé-Pichon, Anne-Sophie, Koh, Hyun Yong, Poduri, Annapurna, Bolton, Jeffrey, Knopp, Cordula, Julia Suh, Dong Sun, Maier, Andrea, Toosi, Mehran B, Karimiani, Ehsan G, Maroofian, Reza, Schaefer, Gerald B, Ramakumaran, Vijayalakshmi, Vasudevan, Pradeep, Prasad, Chitra, Osmond, Matthew, Schuhmann, Sarah, Vasileiou, Georgia, Russ-Hall, Sophie, Scheffer, Ingrid E, Carvill, Gemma L, Mefford, Heather, Acosta, MT, Adam, M, Adams, DR, Alvarez, RL, Alvey, J, Amendola, L, Andrews, A, Ashley, EA, Bacino, CA, Bademci, G, Balasubramanyam, A, Baldridge, D, Bale, J, Bamshad, M, Barbouth, D, Bayrak-Toydemir, P, Beck, A, Beggs, AH, Behrens, E, Bejerano, G, Bellen, HJ, Bennett, J, Berg-Rood, B, Bernstein, JA, Berry, GT, Bican, A, Bivona, S, Blue, E, Bohnsack, J, Bonner, D, Botto, L, Boyd, B, Briere, LC, Brown, G, Burke, EA, Burrage, LC, Butte, MJ, Byers, P, Byrd, WE, Carey, J, Carrasquillo, O, Cassini, T, Chang, TCP, Chanprasert, S, Undiagnosed Diseases Network, .
المصدر: American Journal of Human Genetics , 111 (1) pp. 96-118. (2024)
مصطلحات موضوعية: neurodevelopmental disorder, synaptic protein, active zone protein, Mendelian phenotypes, fruit flies
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10188776/1/A%20syndromic%20neurodevelopmental%20disorder%20caused%20by%20rare%20variants%20in%20PPFIA3.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10188776Test/
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2دورية أكاديمية
المؤلفون: Niggl, E., Bouman, A., Briere, L.C., Hoogenboezem, R.M., Wallaard, I., Park, J., Admard, J., Wilke, M., Harris-Mostert, E.D.R.O., Elgersma, M., Bain, J., Balasubramanian, M., Banka, S., Benke, P.J., Bertrand, M., Blesson, A.E., Clayton-Smith, J., Ellingford, J.M., Gillentine, M.A., Goodloe, D.H., Haack, T.B., Jain, M., Krantz, I., Luu, S.M., McPheron, M., Muss, C.L., Raible, S.E., Robin, N.H., Spiller, M., Starling, S., Sweetser, D.A., Thiffault, I., Vetrini, F., Witt, D., Woods, E., Zhou, D., Elgersma, Y., van Esbroeck, A.C.M., Ambrose, J.C., Arumugam, P., Bevers, R., Bleda, M., Boardman-Pretty, F., Boustred, C.R., Brittain, H., Brown, M.A., Caulfield, M.J., Chan, G.C., Giess, A., Griffin, J.N., Hamblin, A., Henderson, S., Hubbard, T.J.P., Jackson, R., Jones, L.J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Lakey, A., Leigh, S.E.A., Leong, I.U.S., Lopez, F.J., Maleady-Crowe, F., McEntagart, M., Minneci, F., Mitchell, J., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A.C., O‘Donovan, P., Odhams, C.A., Patch, C., Perez-Gil, D., Pereira, M.B., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Savage, K., Sawant, K., Scott, R.H., Siddiq, A., Sieghart, A., Smith, S.C., Sosinsky, A., Stuckey, A., Tanguy, M., Taylor Tavares, A.L., Thomas, E.R.A., Thompson, S.R., Tucci, A., Welland, M.J., Williams, E., Witkowska, K., Wood, S.M., Zarowiecki, M., Acosta, M.T., Adams, D.R., Alvarez, R.L., Alvey, J., Allworth, A., Andrews, A., Ashley, E.A., Afzali, B., 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., Bennet, J., Bernstein, J.A., Berry, G.T., Bican, A., Bivona, S., Blue, E., Bohnsack, J., Bonner, D., Botto, L., 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., Chanprasert, S., Chao, H.-T., Chinn, I., Clark, G.D., Coakley, T.R., Cobban, L.A., Cogan, J.D., Coggins, M., Cole, F.S., Colley, H.A., Cope, H., Corona, R., Craigen, W.J., Crouse, A.B., Cunningham, M., D'Souza, P., Dai, H., Dasari, S., Davis, J., Dayal, J.G., Delgado, M., 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., Fu, J., Gahl, W.A., Glass, I., Goddard, P.C., Godfrey, R.A., Grajewski, A., Halley, M.C., Hamid, R., Hanchard, N., Hassey, K., Hayes, N., High, F., Hing, A., Hisama, F.M., Holm, I.A., Hom, J., Horike-Pyne, M., Huang, A., Huang, Y., Hutchison, S., Introne, W., Isasi, R., Izumi, K., Jarvik, G.P., Jarvik, J., Jayadev, S., Jean-Marie, O., Jobanputra, V., Kaitryn, E., Ketkar, S., Kiley, D., Kilich, G., Kobren, S.N., Kohane, I.S., Kohler, J.N., Korrick, S., 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., Mamounas, L.A., Manolio, T.A., Mao, R., Marom, R., Marth, G., Martin, B.A., Martin, M.G., Martínez-Agosto, J.A., Marwaha, S., McCauley, J., McConkie-Rosell, A., McCray, A.T., McGee, E., Might, M., Miller, D., Mirzaa, G., Morava, E., Moretti, P., Morimoto, M., Mulvihill, J.J., Nakano-Okuno, M., Nelson, S.F., Nieves-Rodriguez, S., Novacic, D., Oglesbee, D., Orengo, J.P., Pace, L., Pak, S., Pallais, J.C., Papp, J.C., Parker, N.H., Petcharet, L., Phillips, J.A., Posey, J.E., Potocki, L., Swerdzewski, B.N., Quinlan, A., Rao, D.A., Raper, A., Raskind, W., Renteria, G., Reuter, C., Rives, L., Robertson, A.K., Rodan, L.H., Rosenfeld, J.A., Rosenthal, E., Rossignol, F., Ruzhnikov, M., Sabaii, M., Sacco, R., Sampson, J.B., Saporta, M., Schaechter, J., Schedl, T., Schoch, K., Scott, D.A., Seto, E., Sharma, P., Shashi, V., Shelkowitz, E., Sheppeard, S., Shin, J., Silverman, E., Sinsheimer, J., Sisco, K., Smith, E., Smith, K., Solnica-Krezel, L., Solomon, B., Spillmann, R., Stergachis, A., Stoler, J., Sullivan, K., Sullivan, J., Sutton, S., Sybert, V., Tabor, H.K., Tan, Q.K.-G., Tan, A.L., Tarakad, A., Tekin, M., Telischi, F., Thorson, W., Tifft, C., 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., Walley, N.M., Wambach, J., Wan, J., Wang, L.-K., Wangler, M.F., Ward, P.A., Wegner, D., Weisz, M., Wener, M., Wenger, T., Westerfield, M., Wheeler, M.T., Whitlock, J., Wolfe, L.A., Yamamoto, S., Zhang, Z., Zuchner, S.
العلاقة: Niggl, E. orcid.org/0000-0002-5654-8425 , Bouman, A., Briere, L.C. et al. (345 more authors) (2023) HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder. The American Journal of Human Genetics, 110 (8). pp. 1414-1435. ISSN 0002-9297
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3دورية أكاديمية
المؤلفون: Johnson, BV, Kumar, R, Oishi, S, Alexander, S, Kasherman, M, Vega, MS, Ivancevic, A, Gardner, A, Domingo, D, Corbett, M, Parnell, E, Yoon, S, Oh, T, Lines, M, Lefroy, H, Kini, U, Van Allen, M, Grønborg, S, Mercier, S, Küry, S, Bézieau, S, Pasquier, L, Raynaud, M, Afenjar, A, Billette de Villemeur, T, Keren, B, Désir, J, Van Maldergem, L, Marangoni, M, Dikow, N, Koolen, DA, VanHasselt, PM, Weiss, M, Zwijnenburg, P, Sa, J, Reis, CF, López-Otín, C, Santiago-Fernández, O, Fernández-Jaén, A, Rauch, A, Steindl, K, Joset, P, Goldstein, A, Madan-Khetarpal, S, Infante, E, Zackai, E, Mcdougall, C, Narayanan, V, Ramsey, K, Mercimek-Andrews, S, Pena, L, Shashi, V, Schoch, K, Sullivan, JA, Acosta, MT, Adams, DR, Aday, A, Alejandro, ME, Allard, P, Ashley, EA, Azamian, MS, Bacino, CA, Bademci, G, Baker, E, Balasubramanyam, A, Baldridge, D, Barbouth, D, Batzli, GF, Beggs, AH, Bellen, HJ, Bernstein, JA, Berry, GT, Bican, A, Bick, DP, Birch, CL, Bivona, S, Bonnenmann, C, Bonner, D, Boone, BE, Bostwick, BL, Briere, LC, Brokamp, E, Brown, DM, Brush, M, Burke, EA, Burrage, LC, Butte, MJ, Carrasquillo, O, Peter Chang, TC, Chao, HT, Clark, GD, Coakley, TR, Cobban, LA, Cogan, JD, Cole, FS, Colley, HA, Cooper, CM, Cope, H, Craigen, WJ, D'Souza, P, Wood, Stephen
مصطلحات موضوعية: Biological sciences, Biomedical and clinical sciences, Clinical sciences, Neurosciences, Psychology
العلاقة: Biological Psychiatry; Johnson, BV; Kumar, R; Oishi, S; Alexander, S; Kasherman, M; Vega, MS; Ivancevic, A; Gardner, A; Domingo, D; Corbett, M; Parnell, E; Yoon, S; Oh, T; Lines, M; Lefroy, H; Kini, U; Van Allen, M; Grønborg, S; Mercier, S; Küry, S; Bézieau, S; Pasquier, L; Raynaud, M; Afenjar, A; Billette de Villemeur, T; Keren, B; Désir, J; Van Maldergem, L; Marangoni, M; Dikow, N; Koolen, DA; VanHasselt, PM; Weiss, M; Zwijnenburg, P; Sa, J; Reis, CF; López-Otín, C; Santiago-Fernández, O; Fernández-Jaén, A; Rauch, A; Steindl, K; Joset, P; Goldstein, A; Madan-Khetarpal, S; Infante, E; Zackai, E; Mcdougall, C; Narayanan, V; Ramsey, K; Mercimek-Andrews, S; Pena, L; Shashi, V; Schoch, K; Sullivan, JA; Acosta, MT; Adams, DR; Aday, A; Alejandro, ME; Allard, P; Ashley, EA; Azamian, MS; Bacino, CA; Bademci, G; Baker, E; Balasubramanyam, A; Baldridge, D; Barbouth, D; Batzli, GF; Beggs, AH; Bellen, HJ; Bernstein, JA; Berry, GT; Bican, A; Bick, DP; Birch, CL; Bivona, S; Bonnenmann, C; Bonner, D; Boone, BE; Bostwick, BL; Briere, LC; Brokamp, E; Brown, DM; Brush, M; Burke, EA; Burrage, LC; Butte, MJ; Carrasquillo, O; Peter Chang, TC; Chao, HT; Clark, GD; Coakley, TR; Cobban, LA; Cogan, JD; Cole, FS; Colley, HA; Cooper, CM; Cope, H; Craigen, WJ; D'Souza, P, Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling, Biological Psychiatry, 2019; http://hdl.handle.net/10072/386708Test
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4دورية أكاديمية
المؤلفون: Castilla-Vallmanya L., Selmer K. K., Dimartino C., Rabionet R., Blanco-Sanchez B., Yang S., Reijnders M. R. F., van Essen A. J., Oufadem M., Vigeland M. D., Stadheim B., Houge G., Cox H., Kingston H., Clayton-Smith J., Innis J. W., Iascone M., Cereda A., Gabbiadini S., Chung W. K., Sanders V., Charrow J., Bryant E., Millichap J., Vitobello A., Thauvin C., Mau-Them F. T., Faivre L., Lesca G., Labalme A., Rougeot C., Chatron N., Sanlaville D., Christensen K. M., Kirby A., Lewandowski R., Gannaway R., Aly M., Lehman A., Clarke L., Graul-Neumann L., Zweier C., Lessel D., Lozic B., Aukrust I., Peretz R., Stratton R., Smol T., Dieux-Coeslier A., Meira J., Wohler E., Sobreira N., Beaver E. M., Heeley J., Briere L. C., High F. A., Sweetser D. A., Walker M. A., Keegan C. E., Jayakar P., Shinawi M., Kerstjens-Frederikse W. S., Earl D. L., Siu V. M., Reesor E., Yao T., Hegele R. A., Vaske O. M., Rego S., Shapiro K. A., Wong B., Gambello M. J., McDonald M., Karlowicz D., Colombo R., Serretti A., Pais L., O'Donnell-Luria A., Wray A., Sadedin S., Chong B., Tan T. Y., Christodoulou J., White S. M., Slavotinek A., Barbouth D., Morel Swols D., Parisot M., Bole-Feysot C., Nitschke P., Pingault V., Munnich A., Cho M. T., Cormier-Daire V., Balcells S., Lyonnet S., Grinberg D., Amiel J., Urreizti R., Gordon C. T.
المساهمون: Castilla-Vallmanya L., Selmer K.K., Dimartino C., Rabionet R., Blanco-Sanchez B., Yang S., Reijnders M.R.F., van Essen A.J., Oufadem M., Vigeland M.D., Stadheim B., Houge G., Cox H., Kingston H., Clayton-Smith J., Innis J.W., Iascone M., Cereda A., Gabbiadini S., Chung W.K., Sanders V., Charrow J., Bryant E., Millichap J., Vitobello A., Thauvin C., Mau-Them F.T., Faivre L., Lesca G., Labalme A., Rougeot C., Chatron N., Sanlaville D., Christensen K.M., Kirby A., Lewandowski R., Gannaway R., Aly M., Lehman A., Clarke L., Graul-Neumann L., Zweier C., Lessel D., Lozic B., Aukrust I., Peretz R., Stratton R., Smol T., Dieux-Coeslier A., Meira J., Wohler E., Sobreira N., Beaver E.M., Heeley J., Briere L.C., High F.A., Sweetser D.A., Walker M.A., Keegan C.E., Jayakar P., Shinawi M., Kerstjens-Frederikse W.S., Earl D.L., Siu V.M., Reesor E., Yao T., Hegele R.A., Vaske O.M., Rego S., Shapiro K.A., Wong B., Gambello M.J., McDonald M., Karlowicz D., Colombo R., Serretti A., Pais L., O'Donnell-Luria A., Wray A., Sadedin S., Chong B., Tan T.Y., Christodoulou J., White S.M., Slavotinek A., Barbouth D., Morel Swols D., Parisot M., Bole-Feysot C., Nitschke P., Pingault V., Munnich A., Cho M.T., Cormier-Daire V., Balcells S., Lyonnet S., Grinberg D., Amiel J., Urreizti R., Gordon C.T.
مصطلحات موضوعية: blepharophimosi, craniofacial development, intellectual disability, patent ductus arteriosu, TRAF7
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32376980; info:eu-repo/semantics/altIdentifier/wos/WOS:000530798500002; volume:22; issue:7; firstpage:1215; lastpage:1226; numberofpages:12; journal:GENETICS IN MEDICINE; http://hdl.handle.net/11585/793241Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85085138268
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5دورية أكاديمية
المؤلفون: Johnson, B.V., Kumar, R., Oishi, S., Alexander, S., Kasherman, M., Vega, M.S., Ivancevic, A., Gardner, A., Domingo, D., Corbett, M., Parnell, E., Yoon, S., Oh, T., Lines, M., Lefroy, H., Kini, U., Allen, M. van, Gronborg, S., Mercier, S., Kury, S., Bezieau, S., Pasquier, L., Raynaud, M., Afenjar, A., Villemeur, T.B. de, Keren, B., Desir, J., Maldergem, L. van, Marangoni, M., Dikow, N., Koolen, D.A., VanHasselt, P.M., Weiss, M., Zwijnenburg, P., Sa, J., Reis, C.F., Lopez-Otin, C., Santiago-Fernandez, O., Fernandez-Jaen, A., Rauch, A., Steindl, K., Joset, P., Goldstein, A., Madan-Khetarpal, S., Infante, E., Zackai, E., Mcdougall, C., Narayanan, V., Ramsey, K., Mercimek-Andrews, S., Pena, L., Shashi, V., Schoch, K., Sullivan, J.A., Vairo, F.P.E., Pichurin, P.N., Ewing, S.A., Barnett, S.S., Klee, E.W., Perry, M.S., Koenig, M.K., Keegan, C.E., Schuette, J.L., Asher, S., Perilla-Young, Y., Smith, L.D., Rosenfeld, J.A., Bhoj, E., Kaplan, P., Li, D., Oegema, R., Binsbergen, E. van, Zwaag, B. van der, Smeland, M.F., Cutcutache, I., Page, M., Armstrong, M., Lin, A.E., Steeves, M.A., Hollander, N. den, Hoffer, M.J.V., Reijnders, M.R.F., Demirdas, S., Koboldt, D.C., Bartholomew, D., Mosher, T.M., Hickey, S.E., Shieh, C., Sanchez-Lara, P.A., Graham, J.M., Tezcan, K., Schaefer, G.B., Danylchuk, N.R., Asamoah, A., Jackson, K.E., Yachelevich, N., Au, M., Perez-Jurado, L.A., Kleefstra, T., Penzes, P., Wood, S.A., Burne, T., Pierson, T.M., Piper, M., Gecz, J., Jolly, L.A., Acosta, M.T., Adams, D.R., Aday, A., Alejandro, M.E., Allard, P., Ashley, E.A., Azamian, M.S., Bacino, C.A., Bademci, G., Baker, E., Balasubramanyam, A., Baldridge, D., Barbouth, D., Batzli, G.F., Beggs, A.H., Bellen, H.J., Bernstein, J.A., Berry, G.T., Bican, A., Bick, D.P., Birch, C.L., Bivona, S., Bonnenmann, C., Bonner, D., Boone, B.E., Bostwick, B.L., Briere, L.C., Brokamp, E., Brown, D.M., Brush, M., Burke, E.A., Burrage, L.C., Butte, M.J., Carrasquillo, O., Chang, T.C.P., Chao, H.T., Clark, G.D., Coakley, T.R., Cobban, L.A., Cogan, J.D., Cole, F.S., Colley, H.A., Cooper, C.M., Cope, H., Craigen, W.J., D'Souza, P., Dasari, S., Davids, M., Davidson, J.M., Dayal, J.G., Dell'Angelica, E.C., Dhar, S.U., Dorrani, N., Dorset, D.C., Douine, E.D., Draper, D.D., Dries, A.M., Duncan, L., Eckstein, D.J., Emrick, L.T., Eng, C.M., Enns, G.M., Esteves, C., Estwick, T., Fernandez, L., Ferreira, C., Fieg, E.L., Fisher, P.G., Fogel, B.L., Forghani, I., Friedman, N.D., Gahl, W.A., Godfrey, R.A., Goldman, A.M., Goldstein, D.B., Gourdine, J.P.F., Grajewski, A., Groden, C.A., Gropman, A.L., Haendel, M., Hamid, R., Hanchard, N.A., High, F., Holm, I.A., Hom, J., Huang, A., Huang, Y., Isasi, R., Jamal, F., Jiang, Y.H., Johnston, J.M., Jones, A.L., Karaviti, L., Kelley, E.G., Koeller, D.M., Kohane, I.S., Kohler, J.N., Krakow, D., Krasnewich, D.M., Korrick, S., Koziura, M., Krier, J.B., Kyle, J.E., Lalani, S.R., Lam, B., Lanpher, B.C., Lanza, I.R., Lau, C.C., Lazar, J., LeBlanc, K., Lee, B.H., Lee, H., Levitt, R., Levy, S.E., Lewis, R.A., Lincoln, S.A., Liu, P.F., Liu, X.Z., Loo, S.K., Loscalzo, J., Maas, R.L., Macnamara, E.F., MacRae, C.A., Maduro, V.V., Majcherska, M.M., Malicdan, M.C.V., Mamounas, L.A., Manolio, T.A., Markello, T.C., Marom, R., Martin, M.G., Martinez-Agosto, J.A., Marwaha, S., May, T., McCauley, J., McConkie-Rosell, A., McCormack, C.E., McCray, A.T., Merker, J.D., Metz, T.O., Might, M., Morava-Kozicz, E., Moretti, P.M., Morimoto, M., Mulvihill, J.J., Murdock, D.R., Nath, A., Nelson, S.F., Newberry, J.S., Newman, J.H., Nicholas, S.K., Novacic, D., Oglesbee, D., Orengo, J.P., Pak, S., Pallais, J.C., Palmer, C.G.S., Papp, J.C., Parker, N.H., Phillips, J.A., Posey, J.E., Postlethwait, J.H., Potocki, L., Pusey, B.N., Renteri, G., Reuter, C.M., Rives, L., Robertson, A.K., Rodan, L.H., Rowley, R.K., Sacco, R., Sampson, J.B., Samson, S.L., Saporta, M., Schaechter, J., Schedl, T., Scott, D.A., Shakachite, L., Sharma, P., Shields, K., S
المصدر: Biological Psychiatry
مصطلحات موضوعية: Brain malformation, Deubiquitylating enzyme, Hippocampus, Neurodevelopmental disorder, TGF beta, USP9X
وصف الملف: application/pdf
العلاقة: https://www.sciencedirect.com/science/article/pii/S0006322319314799?via%3DihubTest; lumc-id: 81345414; https://hdl.handle.net/1887/3181481Test
الإتاحة: https://doi.org/10.1016/j.biopsych.2019.05.028Test
https://hdl.handle.net/1887/3181481Test
https://www.sciencedirect.com/science/article/pii/S0006322319314799?via%3DihubTest -
6
المؤلفون: Castilla-Vallmanya L, Selmer KK, Dimartino C, Raquel Rabionet Janssen, Blanco-Sánchez B, Yang S, Reijnders MRF, van Essen AJ, Oufadem M, Vigeland MD, Stadheim B, Houge G, Cox H, Kingston H, Clayton-Smith J, Innis JW, Iascone M, Cereda A, Gabbiadini S, Chung WK, Sanders V, Charrow J, Bryant E, Millichap J, Vitobello A, Thauvin C, Mau-Them FT, Faivre L, Lesca G, Labalme A, Rougeot C, Chatron N, Sanlaville D, Christensen KM, Kirby A, Lewandowski R, Gannaway R, Aly M, Lehman A, Clarke L, Graul-Neumann L, Zweier C, Lessel D, Lozic B, Aukrust I, Peretz R, Stratton R, Smol T, Dieux-Coëslier A, Meira J, Wohler E, Sobreira N, Beaver EM, Heeley J, Briere LC, High FA, Sweetser DA, Walker MA, Keegan CE, Jayakar P, Shinawi M, Kerstjens-Frederikse WS, Earl DL, Siu VM, Reesor E, Yao T, Hegele RA, Vaske OM, Rego S, Undiagnosed Diseases Network, Care4Rare Canada Consortium, Shapiro KA, Wong B, Gambello MJ, McDonald M, Karlowicz D, Colombo R, Serretti A, Pais L, O'Donnell-Luria A, Wray A, Sadedin S, Chong B, Tan TY, Christodoulou J, White SM, Slavotinek A, Barbouth D, Morel Swols D, Parisot M, Bole-Feysot C, Nitschké P, Pingault V, Munnich A, Cho MT, Cormier-Daire V, Balcells S, Lyonnet S, Grinberg-Vaisman DR, Amiel J, Urreizti R, Gordon CT
المصدر: GENETICS IN MEDICINE
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instnameمصطلحات موضوعية: craniofacial development, patent ductus arteriosus, TRAF7, intellectual disability, blepharophimosis
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::8681f41dd6fc27fa740af813b6ca88f8Test
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=17718Test -
7دورية أكاديمية
المؤلفون: Khimji, I., Lepage, C., Zalesky, L., Jimenez, P., Barbouth, D., Elsas, L., Delgado, I., Briery, B., Gordon, P., Kleiner, G.I.
المصدر: Biology of Blood and Marrow Transplantation ; volume 12, issue 2, page 129 ; ISSN 1083-8791
مصطلحات موضوعية: Transplantation, Hematology
الإتاحة: https://doi.org/10.1016/j.bbmt.2005.11.395Test
https://api.elsevier.com/content/article/PII:S1083879105011973?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1083879105011973?httpAccept=text/plainTest -
8دورية أكاديمية
المؤلفون: Rodriguez, M., Khimji, I., Rhodd, S., Lapage, C., Zalesky, L., Jimenez, P., Barbouth, D., Elsas, L., Kleiner, G.
المصدر: Biology of Blood and Marrow Transplantation ; volume 11, issue 2, page 97 ; ISSN 1083-8791
مصطلحات موضوعية: Transplantation, Hematology
الإتاحة: https://doi.org/10.1016/j.bbmt.2004.12.286Test
https://api.elsevier.com/content/article/PII:S1083879104009383?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1083879104009383?httpAccept=text/plainTest -
9دورية أكاديمية
المؤلفون: Strehle EM, Yu L, Rosenfeld J, Zhou Y, Donkervoort S, Chen TJ, Martinez J, Fan YS, Barbouth D, Zhu H, Vaglio A, Smith R, Stevens C, Curry C, Ladda R, Fan Z, Fox J, Martin J, Abdel-Hamid H, McCracken E, McGillivray B, Masser-Frye D, Huang T
المصدر: American Journal of Medical Genetics: Part A, 27-07-2012
وصف الملف: application/pdf
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10دورية أكاديمية
المؤلفون: Yu, S.1, Barbouth, D.1, Benke, P. J.2, Warburton, P. E.3, Fan, Y.-S.1 yfan@med.miami.edu
المصدر: Cytogenetic & Genome Research. 2007, Vol. 116 Issue 1/2, p141-145. 5p. 1 Color Photograph, 1 Diagram, 1 Chart, 1 Graph.
مصطلحات موضوعية: *SEX chromosome abnormalities, *HUMAN chromosome abnormalities, *CHROMOSOME abnormalities, *CHROMOSOMES, *DISEASES in girls