نتائج البحث

المساهمون: Laboratoire de Physique des 2 Infinis Irène Joliot-Curie (IJCLab), Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS), Institut Laue-Langevin (ILL)

المصدر: Phys.Rev.C ; https://hal.science/hal-04581239Test ; Phys.Rev.C, 2024, 109 (5), pp.054317. ⟨10.1103/PhysRevC.109.054317⟩

مصطلحات موضوعية: [PHYS.NEXP]Physics [physics]/Nuclear Experiment [nucl-ex]

العلاقة: hal-04581239; https://hal.science/hal-04581239Test; INSPIRE: 2787700

الإتاحة: https://doi.org/10.1103/PhysRevC.109.054317Test
https://hal.science/hal-04581239Test

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7

دورية أكاديمية

Biallelic CRELD1 variants cause a multisystem syndrome including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections

مصطلحات موضوعية: Creld1, developmental delay, epilepsy, hypotonia

العلاقة: https://linkinghub.elsevier.com/retrieve/pii/S1098-3600Test(23)01039-0; Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier JM, et al. Biallelic CRELD1 variants cause a multisystem syndrome including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections. Genetics in medicine : official journal of the American College of Medical Genetics. 2023:101023.; Genetics in medicine; https://hdl.handle.net/11287/623073Test

الإتاحة: https://doi.org/10.1016/j.gim.2023.101023Test
https://hdl.handle.net/11287/623073Test

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8

دورية أكاديمية

1762P Delivery of systemic anti-cancer therapy during the COVID-19 pandemic

المؤلفون: Fitzpatrick, O., Ní Dhonaill, R., Linehan, A., Coyne, Z., Hennessy, M., Clarke, M., McGee, E., Barrett, F., Matassa, C., O'Doherty, D., Doyle, T., Christie, A., Hennessy, B.T., Grogan, L., Morris, P.G., Breathnach, O.S., Cowzer, D.

المصدر: Annals of Oncology ; volume 31, page S1024-S1025 ; ISSN 0923-7534

مصطلحات موضوعية: Oncology, Hematology

الإتاحة: https://doi.org/10.1016/j.annonc.2020.08.1826Test
https://api.elsevier.com/content/article/PII:S0923753420418228?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0923753420418228?httpAccept=text/plainTest

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9

دورية أكاديمية

Bok is a Pro-Apoptotic Bcl-2 Protein with Restricted Expression in Reproductive Tissues and Heterodimerizes with Selective Anti-Apoptotic Bcl-2 Family Members

المؤلفون: Hsu, Sheau Yu, Kaipia, Antti, McGee, E., Lomeli, Michelle

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 1997 Nov 01. 94(23), 12401-12406.

الوصول الحر: https://www.jstor.org/stable/43919Test

النص الكامل

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دورية أكاديمية

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder

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/

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