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1دورية أكاديمية
المؤلفون: Cogne, B, Ehresmann, S, Beauregard-Lacroix, E, Rousseau, J, Besnard, T, Garcia, T, Petrovski, S, Avni, S, McWalter, K, Blackburn, PR, Sanders, SJ, Uguen, K, Harris, J, Cohen, JS, Blyth, M, Lehman, A, Berg, J, Li, MH, Kini, U, Joss, S, von der Lippe, C, Gordon, CT, Humberson, JB, Robak, L, Scott, DA, Sutton, VR, Skraban, CM, Johnston, JJ, Poduri, A, Nordenskjold, M, Shashi, V, Gerkes, EH, Bongers, EMHF, Gilissen, C, Zarate, YA, Kvarnung, M, Lally, KP, Kulch, PA, Daniels, B, Hernandez-Garcia, A, Stong, N, McGaughran, J, Retterer, K, Tveten, K, Sullivan, J, Geisheker, MR, Stray-Pedersen, A, Tarpinian, JM, Klee, EW, Sapp, JC, Zyskind, J, Holla, OL, Bedoukian, E, Filippini, F, Guimier, A, Picard, A, Busk, OL, Punetha, J, Pfundt, R, Lindstrand, A, Nordgren, A, Kalb, F, Desai, M, Ebanks, AH, Jhangiani, SN, Dewan, T, Akdemir, ZHC, Telegrafi, A, Zackai, EH, Begtrup, A, Song, XF, Toutain, A, Wentzensen, IM, Odent, S, Bonneau, D, Latypova, X, Deb, W, Redon, S, Bilan, F, Legendre, M, Troyer, C, Whitlock, K, Caluseriu, O, Murphree, MI, Pichurin, PN, Agre, K, Gavrilova, R, Rinne, T, Park, M, Shain, C, Heinzen, EL, Xiao, R, Amiel, J, Lyonnet, S, Isidor, B, Biesecker, LG, Lowenstein, D, Posey, JE, Denomme-Pichon, AS, Ferec, C, Yang, XJ, Rosenfeld, JA, Gilbert-Dussardier, B, Audebert-Bellanger, S, Redon, R, Stessman, HAF, Nellaker, C, Yang, YP, Lupski, JR, Goldstein, DB, Eichler, EE, Bolduc, F, Bezieau, S, Kury, S, Campeau, PM
المصدر: American journal of human genetics. 104(3):530-541
مصطلحات موضوعية: Medicin och hälsovetenskap
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2دورية أكاديمية
المؤلفون: Thomas, Q, Motta, M, Gautier, T, Zaki, MS, Ciolfi, A, Paccaud, J, Girodon, F, Boespflug-Tanguy, O, Besnard, T, Kerkhof, J, McConkey, H, Masson, A, Denommé-Pichon, AS, Cogné, B, Trochu, E, Vignard, V, El It, F, Rodan, LH, Alkhateeb, MA, Jamra, RA, Duplomb, L, Tisserant, E, Duffourd, Y, Bruel, AL, Jackson, A, Banka, S, McEntagart, M, Saggar, A, Gleeson, JG, Sievert, D, Bae, H, Lee, BH, Kwon, K, Seo, GH, Lee, H, Saeed, A, Anjum, N, Cheema, H, Alawbathani, S, Khan, I, Pinto-Basto, J, Teoh, J, Wong, J, Sahari, UBM, Houlden, H, Zhelcheska, K, Pannetier, M, Awad, MA, Lesieur-Sebellin, M, Barcia, G, Amiel, J, Delanne, J, Philippe, C, Faivre, L, Odent, S, Bertoli-Avella, A, Thauvin, C, Sadikovic, B, Reversade, B, Maroofian, R, Govin, J, Tartaglia, M, Vitobello, A
المصدر: American Journal of Human Genetics , 109 (10) pp. 1909-1922. (2022)
مصطلحات موضوعية: DNA methylation, LBR, Pelger-Huët anomaly, TMEM147, facial dysmorphism, intellectual disability, neurodevelopmental disorder, nuclear envelope instability, transcriptomics, translocon dysfunction, Cell Nucleus, Child, Chromatin, Humans, Loss of Heterozygosity, Musculoskeletal Abnormalities, Pelger-Huet Anomaly
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10158009/1/1-s2.0-S0002929722003603-main.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10158009Test/
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3دورية أكاديمية
المؤلفون: Broly, M., Polevoda, B. V., Awayda, K. M., Tong, N., Lentini, J., Besnard, T., Deb, W., O'Rourke, D., Baptista, J., Ellard, S., Almannai, M., Hashem, M., Abdulwahab, F., Shamseldin, H., Al-Tala, S., Alkuraya, F. S., Leon, A., van Loon, R. L. E., Ferlini, A., Sanchini, M., Bigoni, S., Ciorba, A., van Bokhoven, H., Iqbal, Z., Al-Maawali, A., Al-Murshedi, F., Ganesh, A., Al-Mamari, W., Lim, S. C., Pais, L. S., Brown, N., Riazuddin, S., Bézieau, S., Fu, D., Isidor, B., Cogné, B., O'Connell, M. R.
مصطلحات موضوعية: N4-acetylcytidine, Nat10, RNA acetylation, Thumpd1, ac4C, developmental disorder, intellectual disability, tRNA biology, tRNA modifications
العلاقة: https://linkinghub.elsevier.com/retrieve/pii/S0002-9297Test(22)00052-0; Am J Hum Genet. 2022 Feb 11:S0002-9297(22)00052-0. doi:10.1016/j.ajhg.2022.02.001.; https://rde.dspace-express.com/handle/11287/622458Test; American journal of human genetics
الإتاحة: https://doi.org/10.1016/j.ajhg.2022.02.001Test
https://rde.dspace-express.com/handle/11287/622458Test -
4دورية 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 -
5دورية أكاديمية
المؤلفون: Cogné, B, Ehresmann, S, Beauregard-Lacroix, E, Rousseau, J, Besnard, T, Garcia, T, Petrovski, S, Avni, S, McWalter, K, Blackburn, PR, Sanders, SJ, Uguen, K, Harris, J, Cohen, JS, Blyth, M, Lehman, A, Berg, J, Li, MH, Kini, U, Joss, S, von der Lippe, C, Gordon, CT, Humberson, JB, Robak, L, Scott, DA, Sutton, VR, Skraban, CM, Johnston, JJ, Poduri, A, Nordenskjöld, M, Shashi, V, Gerkes, EH, Bongers, EMHF, Gilissen, C, Zarate, YA, Kvarnung, M, Lally, KP, Kulch, PA, Daniels, B, Hernandez-Garcia, A, Stong, N, McGaughran, J, Retterer, K, Tveten, K, Sullivan, J, Geisheker, MR, Stray-Pedersen, A, Tarpinian, JM, Klee, EW, Nellaker, C, Sapp, JC
العلاقة: https://ora.ox.ac.uk/objects/uuid:1e5ca980-164f-4328-9379-a5a2fa8e23ffTest; https://doi.org/10.1016/j.ajhg.2019.01.010Test
الإتاحة: https://doi.org/10.1016/j.ajhg.2019.01.010Test
https://ora.ox.ac.uk/objects/uuid:1e5ca980-164f-4328-9379-a5a2fa8e23ffTest -
6دورية أكاديمية
المؤلفون: Cospain, A., Rivera-Barahona, A., Dumontet, E., Gener, B., Bailleul-Forestier, I., Meyts, I., Jouret, G., Isidor, B., Brewer, C., Wuyts, W., Moens, L., Delafontaine, S., Keung Lam, W. W., Van Den Bogaert, K., Boogaerts, A., Scalais, E., Besnard, T., Cogne, B., Guissard, C., Rollier, P., Carre, W., Bouvet, R., Tarte, K., Gómez-Carmona, R., Lapunzina, P., Odent, S., Faoucher, M., Dubourg, C., Ruiz-Pérez, V. L., Devriendt, K., Pasquier, L., Pérez-Jurado, L. A.
مصطلحات موضوعية: Humans, Scalp/abnormalities/metabolism, Autism Spectrum Disorder/genetics, HEK293 Cells, Transcription Factor AP-1/genetics, Exons/genetics, Ectodermal Dysplasia/genetics, Neurodevelopmental Disorders/genetics, RNA, Messenger, Fos-Related Antigen-2/genetics, AP-1 complex, Adams-Oliver syndrome, Aplasia cutis congenita of scalp, Enamel hypoplasia, FOSL2, qGenomics Laboratories
العلاقة: https://linkinghub.elsevier.com/retrieve/pii/S1098-3600Test(22)00937-6; Genet Med. 2022 Dec;24(12):2475-2486. doi:10.1016/j.gim.2022.09.002. Epub 2022 Oct 4.; https://rde.dspace-express.com/handle/11287/622737Test; Genetics in medicine
الإتاحة: https://doi.org/10.1016/j.gim.2022.09.002Test
https://rde.dspace-express.com/handle/11287/622737Test -
7مؤتمر
المؤلفون: Besnard, T, A
المساهمون: Université de Pau et des Pays de l'Adour (UPPA), Laboratoire d'Etudes en Sciences des Arts (LESA), Aix Marseille Université (AMU), Maud Mulliez, Caroline Delevoie, Rémy Chapoulie
المصدر: Virtual Retrospect 2017 ; https://hal.science/hal-03151386Test ; Virtual Retrospect 2017, Maud Mulliez; Caroline Delevoie, Nov 2017, Pessac, France. pp.219-225 ; http://ausoniuseditions.u-bordeaux-montaigne.frTest
مصطلحات موضوعية: polychromy, contemporary art, reception studies, sculpture, art history, polychromie, art actuel, art contemporain, réception de l’antiquité, histoire de l’art, [SHS]Humanities and Social Sciences, [SHS.ART]Humanities and Social Sciences/Art and art history
العلاقة: hal-03151386; https://hal.science/hal-03151386Test; https://hal.science/hal-03151386/documentTest; https://hal.science/hal-03151386/fileTest/Besnard.pdf
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8دورية أكاديمية
المؤلفون: Stephenson S. E. M., Costain G., Blok L. E. R., Silk M. A., Nguyen T. B., Dong X., Alhuzaimi D. E., Dowling J. J., Walker S., Amburgey K., Hayeems R. Z., Rodan L. H., Schwartz M. A., Picker J., Lynch S. A., Gupta A., Rasmussen K. J., Schimmenti L. A., Klee E. W., Niu Z., Agre K. E., Chilton I., Chung W. K., Revah-Politi A., Au P. Y. B., Griffith C., Racobaldo M., Raas-Rothschild A., Ben Zeev B., Barel O., Moutton S., Morice-Picard F., Carmignac V., Cornaton J., Marle N., Devinsky O., Stimach C., Wechsler S. B., Hainline B. E., Sapp K., Willems M., Bruel A. -L., Dias K. -R., Evans C. -A., Roscioli T., Sachdev R., Temple S. E. L., Zhu Y., Baker J. J., Scheffer I. E., Gardiner F. J., Schneider A. L., Muir A. M., Mefford H. C., Crunk A., Heise E. M., Millan F., Monaghan K. G., Person R., Rhodes L., Richards S., Wentzensen I. M., Cogne B., Isidor B., Nizon M., Vincent M., Besnard T., Piton A., Marcelis C., Kato K., Koyama N., Ogi T., Goh E. S. -Y., Richmond C., Amor D. J., Boyce J. O., Morgan A. T., Hildebrand M. S., Kaspi A., Bahlo M., Fridriksdottir R., Katrinardottir H., Sulem P., Stefansson K., Bjornsson H. T., Mandelstam S., Morleo M., Mariani M., Scala M., Accogli A., Torella A., Capra V., Wallis M., Jansen S., Weisfisz Q., de Haan H., Sadedin S., Lim S. C., White S. M., Ascher D. B., Schenck A., Lockhart P. J., Christodoulou J., Tan T. Y.
المساهمون: Stephenson, S. E. M., Costain, G., Blok, L. E. R., Silk, M. A., Nguyen, T. B., Dong, X., Alhuzaimi, D. E., Dowling, J. J., Walker, S., Amburgey, K., Hayeems, R. Z., Rodan, L. H., Schwartz, M. A., Picker, J., Lynch, S. A., Gupta, A., Rasmussen, K. J., Schimmenti, L. A., Klee, E. W., Niu, Z., Agre, K. E., Chilton, I., Chung, W. K., Revah-Politi, A., Au, P. Y. B., Griffith, C., Racobaldo, M., Raas-Rothschild, A., Ben Zeev, B., Barel, O., Moutton, S., Morice-Picard, F., Carmignac, V., Cornaton, J., Marle, N., Devinsky, O., Stimach, C., Wechsler, S. B., Hainline, B. E., Sapp, K., Willems, M., Bruel, A. -L., Dias, K. -R., Evans, C. -A., Roscioli, T., Sachdev, R., Temple, S. E. L., Zhu, Y., Baker, J. J., Scheffer, I. E., Gardiner, F. J., Schneider, A. L., Muir, A. M., Mefford, H. C., Crunk, A., Heise, E. M., Millan, F., Monaghan, K. G., Person, R., Rhodes, L., Richards, S., Wentzensen, I. M., Cogne, B., Isidor, B., Nizon, M., Vincent, M., Besnard, T., Piton, A., Marcelis, C., Kato, K., Koyama, N., Ogi, T., Goh, E. S. -Y., Richmond, C., Amor, D. J., Boyce, J. O., Morgan, A. T., Hildebrand, M. S., Kaspi, A., Bahlo, M., Fridriksdottir, R., Katrinardottir, H., Sulem, P., Stefansson, K., Bjornsson, H. T., Mandelstam, S., Morleo, M., Mariani, M., Scala, M., Accogli, A., Torella, A., Capra, V., Wallis, M., Jansen, S., Weisfisz, Q., de Haan, H., Sadedin, S., Lim, S. C., White, S. M., Ascher, D. B.
مصطلحات موضوعية: brain malformation, epilepsy, F-box protein, FBXW7, gastrointestinal issue, global developmental delay, hypotonia, intellectual disability, macrocephaly, Neurodevelopment
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000789105400006; volume:109; firstpage:601; lastpage:617; numberofpages:17; journal:AMERICAN JOURNAL OF HUMAN GENETICS; https://hdl.handle.net/11567/1119280Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85127470624
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9دورية أكاديمية
المؤلفون: Lenglet, M, Robriquet, F, Schwarz, K, Camps, C, Couturier, A, Hoogewijs, D, Buffet, A, Knight, SJ, Gad, S, Couvé, S, Chesnel, F, Pacault, M, Lindenbaum, P, Job, S, Dumont, S, Besnard, T, Cornec, M, Dreau, H, Pentony, M, Kvikstad, E, Deveaux, S, Burnichon, N, Ferlicot, S, Vilaine, M, Mazzella, J-M, Airaud, F, Garrec, C, Heidet, L, Irtan, S, Mantadakis, E, Bouchireb, K, Debatin, K-M, Redon, R, Bezieau, S, Paillerets, B, Teh, BT, Girodon, F, Randi, M-L, Putti, MC, Bours, V, Van Wijk, R, Göthert, JR, Kattamis, A, Janin, N, Bento, C, Taylor, JC, Arlot-Bonnemains, Y, Richard, S, Gimenez-Roqueplo, A-P, Cario, H, Gardie, B
العلاقة: https://ora.ox.ac.uk/objects/uuid:5ad73adc-dd81-4f5c-9c6b-9fe0fffb0167Test; https://doi.org/10.1182/blood-2018-03-838235Test
الإتاحة: https://doi.org/10.1182/blood-2018-03-838235Test
https://ora.ox.ac.uk/objects/uuid:5ad73adc-dd81-4f5c-9c6b-9fe0fffb0167Test -
10دورية أكاديمية
المؤلفون: Küry, S. (Sébastien), Woerden, G.M. (Geeske) van, Besnard, T. (Thomas), Proietti-Onori, M. (Martina), Latypova, X. (Xénia), Towne, M.C. (Meghan C.), Cho, M.T. (Megan T.), Prescott, T. (Trine), Ploeg, M.A. (Melissa), Sanders, S. (Stephan), Stessman, H.A.F. (Holly A F), Pujol, A. (Aurora), Distel, B. (Ben), Robak, L.A. (Laurie A.), Bernstein, J.A. (Jonathan A.), Denommé-Pichon, A.-S. (Anne-Sophie), Lesca, G. (Gaëtan), Sellars, E.A. (Elizabeth A.), Berg, J. (Jonathan), Carré, W. (Wilfrid), Busk, ØL. (Øyvind Løvold), Bon, B. (Bregje) van, Waugh, J.L. (Jeff L.), Deardorff, M.A. (Matthew), Hoganson, G.E. (George E.), Bosanko, K.B. (Katherine B.), Johnson, D.S. (Diana S.), Dabir, T. (Tabib), Holla, ØL. (Øystein Lunde), Sarkar, A. (Ajoy), Tveten, K. (Kristian), de Bellescize, J. (Julitta), Braathen, G.J. (Geir J.), Terhal, P. (Paulien), Grange, D.K. (Dorothy K.), Haeringen, A. (Arie) van, Lam, C. (Christina), Mirzaa, G.M. (Ghayda), Burton, J. (Jennifer), Bhoj, E.J. (Elizabeth J.), Douglas, J. (Jessica), Santani, A.B. (Avni B.), Nesbitt, A.I. (Addie I.), Helbig, K.L. (Katherine L.), Andrews, M.V. (Marisa V.), Begtrup, A. (Amber), Tang, S. (Sha), van Gassen, K.L.I. (Koen L.I.), Juusola, J. (Jane), Foss, K. (Kimberly), Enns, G. (Gregory), Moog, U. (Ute), Hinderhofer, K. (Katrin), Paramasivam, N. (Nagarajan), Lincoln, S. (Sharyn), Kusako, B.H. (Brandon H.), Lindenbaum, P. (Pierre), Charpentier, E. (Eric), Nowak, C.B. (Catherine B.), Cherot, E. (Elouan), Simonet, T. (Thomas), Ruivenkamp, C.A. (Claudia), Hahn, S. (Sihoun), Brownstein, C.A. (Catherine A.), Xia, F. (Fan), Schmitt, S. (Sébastien), Deb, W. (Wallid), Bonneau, D. (Dominique), Nizon, M. (Mathilde), Quinquis, D. (Delphine), Chelly, J. (Jamel), Rudolf, G. (Gabrielle), Sanlaville, D. (Damien), Parent, P. (Philippe), Gilbert-Dussardier, B. (Brigitte), Toutain, A. (Annick), Sutton, V.R. (V. Reid), Thies, J. (Jenny), Peart-Vissers, L.E.L.M. (Lisenka E L M), Boisseau, P. (Pierre), Vincent, M. (Marie), Grabrucker, A.M. (Andreas M.), Dubourg, C. (Christèle), Tan, W.-H. (Wen-Hann), Verbeek, N.E. (Nienke), Granzow, M. (Martin), Santen, G.W.E. (Gijs), Shendure, J. (Jay), Isidor, B. (Bertrand), Pasquier, L. (Laurent), Redon, R. (Richard), Yang, Y. (Yaping), State, M.W. (Matthew), Kleefstra, T. (Tjitske), Cogné, B. (Benjamin), Petrovski, S. (Slavé), Retterer, K. (Kyle), Eichler, E.E. (Evan), Rosenfeld, J.A. (Jill), Agrawal, P.B. (Pankaj B.), Bézieau, S. (Stéphane), Odent, S. (Sylvie), Elgersma, Y. (Ype), Mercier, S. (Sandra)
المصدر: American Journal of Human Genetics vol. 101 no. 5, pp. 768-788
مصطلحات موضوعية: AMPAR, CAMK2, CAMK2A, CAMK2B, de novo mutations, intellectual disability, NMDAR, synaptic plasticity
العلاقة: http://repub.eur.nl/pub/102880Test; urn:hdl:1765/102880