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/

الإتاحة: 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/

المؤلفون: Moreno-John, G, Fleming, C, Ford, ME, Lichtenberg, P, Mangione, CM, Pérez-Stable, EJ, Tilley, B, Washington, OGM, Carrasquillo, O

المصدر: Ethnicity and Disease. 17(SUPPL. 1)

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/7cv0d863Test

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

الإتاحة: https://eprints.whiterose.ac.uk/208871Test/

المؤلفون: Kenya, S, Young, B, Carrasquillo, O

المصدر: The Journal of Sexual Medicine ; volume 20, issue Supplement_1 ; ISSN 1743-6095 1743-6109

مصطلحات موضوعية: Urology, Reproductive Medicine, Endocrinology, Endocrinology, Diabetes and Metabolism, Psychiatry and Mental health

الإتاحة: https://doi.org/10.1093/jsxmed/qdad060.252Test
https://academic.oup.com/jsm/article-pdf/20/Supplement_1/qdad060.252/50414406/qdad060.252.pdfTest

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

الإتاحة: https://doi.org/10.1016/j.biopsych.2019.05.028Test
http://hdl.handle.net/10072/386708Test

المؤلفون: Carrasquillo O, Patberg E, Alonzo Y, Li H, Kenya S

المصدر: International Journal of General Medicine, Vol 2014, Iss default, Pp 115-126 (2014)

مصطلحات موضوعية: Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: http://www.dovepress.com/rationale-and-design-of-the-miami-healthy-heart-initiative-a-randomize-a15975Test; https://doaj.org/toc/1178-7074Test

الوصول الحر: https://doaj.org/article/d402448f627241319db00b8117e0b3feTest

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

المؤلفون: Zapata, L.E., Portela, G., Suárez, O.M., Carrasquillo, O.

المصدر: Construction and Building Materials ; volume 41, page 708-716 ; ISSN 0950-0618

مصطلحات موضوعية: General Materials Science, Building and Construction, Civil and Structural Engineering

الإتاحة: https://doi.org/10.1016/j.conbuildmat.2012.12.025Test
https://api.elsevier.com/content/article/PII:S0950061812009828?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0950061812009828?httpAccept=text/plainTest

المؤلفون: Carrasquillo, O (via Mendeley Data)

مصطلحات موضوعية: Interdisciplinary sciences

العلاقة: dk7f9m4jbc; http://nbn-resolving.org/urn:nbn:nl:ui:13-ls-pxe2Test; https://easy.dans.knaw.nl/ui/datasets/id/easy-dataset:264545Test

الإتاحة: https://doi.org/10.17632/dk7f9m4jbc.1Test
http://nbn-resolving.org/urn:nbn:nl:ui:13-ls-pxe2Test
https://easy.dans.knaw.nl/ui/datasets/id/easy-dataset:264545Test

المؤلفون: Gebbie, K.M., Meier, B.M., Bakken, S., Carrasquillo, O., Formicola, A., Aboelela, S.W., Glied, S., Larson, E.

المصدر: Journal of Allied Health, 37(2)

مصطلحات موضوعية: Humans, Patient Care Team, Research, Cooperative Behavior, Professional Competence, Delphi Technique

العلاقة: https://doi.org/10.17615/y8x1-y404Test; https://cdr.lib.unc.edu/downloads/9z9035320?file=thumbnailTest; https://cdr.lib.unc.edu/downloads/9z9035320Test

الإتاحة: https://doi.org/10.17615/y8x1-y404Test
https://cdr.lib.unc.edu/downloads/9z9035320?file=thumbnailTest
https://cdr.lib.unc.edu/downloads/9z9035320Test