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1Academic Journal
المؤلفون: Denommé-Pichon, A. (Anne-Sophie), Collins, S. (Stephan), Bruel, A. (Ange-Line), Mikhaleva, A. (Anna), Wagner, C. (Christel), Vancollie, Valerie E., Thomas, Q. (Quentin), Chevarin, M. (Martin), Weber, M. (Mathys), Prada, Carlos E., Overs, A. (Alexis), Palomares-Bralo, M. (María), Santos-Simarro, F. (Fernando), Pacio-Míguez, M. (Marta), Busa, T. (Tiffany), Legius, E. (Eric), Bacino, Carlos A., Rosenfeld, Jill A., Le Guyader, G. (Gwenaël), Egloff, M. (Matthieu), Le Guillou, X. (Xavier), Mencarelli, M. (Maria Antonietta), Renieri, A. (Alessandra), Grosso, S. (Salvatore), Levy, J. (Jonathan), Dozières, B. (Blandine), Desguerre, I. (Isabelle), Vitobello, A. (Antonio), Duffourd, Y. (Yannis), Lelliott, Christopher J., Thauvin-Robinet, C. (Christel), Philippe, C. (Christophe), Faivre, L. (Laurence), Yalcin, B. (Binnaz)
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2Academic Journal
المؤلفون: Denommé-Pichon, A.S., Collins, S.C., Bruel, A.L., Mikhaleva, A., Wagner, C., Vancollie, V.E., Thomas, Q., Chevarin, M., Weber, M., Prada, C.E., Overs, A., Palomares-Bralo, M., Santos-Simarro, F., Pacio-Míguez, M., Busa, T., Legius, E., Bacino, C.A., Rosenfeld, J.A., Le Guyader, G., Egloff, M., Le Guillou, X., Mencarelli, M.A., Renieri, A., Grosso, S., Levy, J., Dozières, B., Desguerre, I., Vitobello, A., Duffourd, Y., Lelliott, C.J., Thauvin-Robinet, C., Philippe, C., Faivre, L., Yalcin, B.
المصدر: Genetics in medicine, vol. 25, no. 7, pp. 100835
مصطلحات موضوعية: Humans, Animals, Mice, Brain/abnormalities, Lissencephaly/genetics, Neurodevelopmental Disorders, Classical Lissencephalies and Subcortical Band Heterotopias, Intellectual Disability/genetics, 14-3-3 Proteins/genetics, 14-3-3, Brain abnormalities, Miller-Dieker syndrome, YWHAE
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/36999555; info:eu-repo/semantics/altIdentifier/eissn/1530-0366; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_1608AF26CE533; https://serval.unil.ch/notice/serval:BIB_1608AF26CE53; https://serval.unil.ch/resource/serval:BIB_1608AF26CE53.P001/REF.pdf
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3Academic Journal
المؤلفون: Soilly, AL, Robert-Viard, C, Besse, C, Bruel, AL, Gerard, B, Boland, A, Piton, A, Duffourd, Y, Muller, J, Poë, C, Jouan, T, El Doueiri, S, Faivre, L, Bacq-Daian, D, Isidor, B, Genevieve, D, Odent, S, Philip, N, Doco-Fenzy, M, Lacombe, D, Asensio, ML, Deleuze, JF, Binquet, C, Arpin, S, Blanchet, P, Blesson, S, Boute-Benejean, O, Busa, T, Colin, E, Coubes, C, Devillard, F, Edery, P, El Chehadeh, S, Fradin, M, Goldenberg, A, Guerrot, A-M, Herenger, Y, Houcinat, N, Jean-Marcais, N, Jouk, P. S., Lambert, L, Lavillaureix, A, Legendre, M, Leheup, B, Manouvrier, S, Mercier, S, Moutton, S, Nizon, M, Pasquier, L, Petit, F
المساهمون: French Ministry of Health
المصدر: BMC Health Services Research ; volume 23, issue 1 ; ISSN 1472-6963
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4Academic Journal
المؤلفون: Forde, C, Burkitt-Wright, E, Turnpenny, PD, Haan, E, Ealing, J, Mansour, S, Holder, M, Lahiri, N, Dixit, A, Procter, A, Pacot, L, Vidaud, D, Capri, Y, Gerard, M, Dollfus, H, Schaefer, E, Quelin, C, Sigaudy, S, Busa, T, Vera, G, Damaj, L, Messiaen, L, Stevenson, DA, Davies, P, Palmer-Smith, S, Callaway, A, Wolkenstein, P, Pasmant, E, Upadhyaya, M
وصف الملف: application/pdf
Relation: https://openaccess.sgul.ac.uk/id/eprint/113939/1/s41431-021-01015-4.pdf; https://openaccess.sgul.ac.uk/id/eprint/113939/6/41431_2021_1015_MOESM1_ESM.pdf; Forde, C; Burkitt-Wright, E; Turnpenny, PD; Haan, E; Ealing, J; Mansour, S; Holder, M; Lahiri, N; Dixit, A; Procter, A; et al. Forde, C; Burkitt-Wright, E; Turnpenny, PD; Haan, E; Ealing, J; Mansour, S; Holder, M; Lahiri, N; Dixit, A; Procter, A; Pacot, L; Vidaud, D; Capri, Y; Gerard, M; Dollfus, H; Schaefer, E; Quelin, C; Sigaudy, S; Busa, T; Vera, G; Damaj, L; Messiaen, L; Stevenson, DA; Davies, P; Palmer-Smith, S; Callaway, A; Wolkenstein, P; Pasmant, E; Upadhyaya, M (2022) Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study. Eur J Hum Genet, 30 (3). pp. 291-297. ISSN 1476-5438 https://doi.org/10.1038/s41431-021-01015-4 SGUL Authors: Mansour, Sahar
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5Academic Journal
المؤلفون: Modenato C., Kumar K., Moreau C., Martin-Brevet S., Huguet G., Schramm C., Jean-Louis M., Martin C. -O., Younis N., Tamer P., Douard E., Thebault-Dagher F., Cote V., Charlebois A. -R., Deguire F., Maillard A. M., Rodriguez-Herreros B., Pain A., Richetin S., Addor M. -C., Andrieux J., Arveiler B., Baujat G., Sloan-Bena F., Belfiore M., Bonneau D., Bouquillon S., Boute O., Brusco A., Busa T., Caberg J. -H., Campion D., Colombert V., Cordier M. -P., David A., Debray F. -G., Delrue M. -A., Doco-Fenzy M., Dunkhase-Heinl U., Edery P., Fagerberg C., Faivre L., Forzano F., Genevieve D., Gerard M., Giachino D., Guichet A., Guillin O., Heron D., Isidor B., Jacquette A., Jaillard S., Journel H., Keren B., Lacombe D., Lebon S., Le Caignec C., Lemaitre M. -P., Lespinasse J., Mathieu-Dramart M., Mercier S., Mignot C., Missirian C., Petit F., Pilekaer Sorensen K., Pinson L., Plessis G., Prieur F., Raymond A., Rooryck-Thambo C., Rossi M., Sanlaville D., Schlott Kristiansen B., Schluth-Bolard C., Till M., Van Haelst M., Van Maldergem L., Alupay H., Aaronson B., Ackerman S., Ankenman K., Anwar A., Atwell C., Bowe A., Beaudet A. L., Benedetti M., Berg J., Berman J., Berry L. N., Bibb A. L., Blaskey L., Brennan J., Brewton C. M., Buckner R., Bukshpun P., Burko J., Cali P., Cerban B., Chang Y., Cheong M., Chow V., Chu Z., Chudnovskaya D., Cornew L., Dale C., Dell J., Dempsey A. G., Deschamps T., Earl R., Edgar J., Elgin J., Olson J. E., Evans Y. L., Findlay A., Fischbach G. D., Fisk C., Fregeau B., Gaetz B., Gaetz L., Garza S., Gerdts J., Glenn O., Gobuty S. E., Golembski R., Greenup M., Heiken K., Hines K., Hinkley L., Jackson F. I., Jenkins J., Jeremy R. J., Johnson K., Kanne S. M., Kessler S., Khan S. Y., Ku M., Kuschner E., Laakman A. L., Lam P., Lasala M. W., Lee H., LaGuerre K., Levy S., Cavanagh A. L., Llorens A. V., Campe K. L., Luks T. L., Marco E. J., Martin S., Martin A. J., Marzano G., Masson C., McGovern K. E., Keehn R. M. N., Miller D. T., Miller F. K., Moss T. J., Murray R., Nagarajan S. S., Nowell K. P., Owen J., Paal A. M., Packer A., Page P. Z., Paul B. M., Peters A., Peterson D., Poduri A., Pojman N. J., Porche K., Proud M. B., Qasmieh S., Ramocki M. B., Reilly B., Roberts T. P. L., Shaw D., Sinha T., Smith-Packard B., Gallagher A. S., Swarnakar V., Thieu T., Triantafallou C., Vaughan R., Wakahiro M., Wallace A., Ward T., Wenegrat J., Wolken A., Melie-Garcia L., Kushan L., Silva A. I., van den Bree M. B. M., Linden D. E. J., Owen M. J., Hall J., Lippe S., Chakravarty M., Bzdok D., Bearden C. E., Draganski B., Jacquemont S.
المساهمون: Modenato C., Kumar K., Moreau C., Martin-Brevet S., Huguet G., Schramm C., Jean-Louis M., Martin C.-O., Younis N., Tamer P., Douard E., Thebault-Dagher F., Cote V., Charlebois A.-R., Deguire F., Maillard A.M., Rodriguez-Herreros B., Pain A., Richetin S., Addor M.-C., Andrieux J., Arveiler B., Baujat G., Sloan-Bena F., Belfiore M., Bonneau D., Bouquillon S., Boute O., Brusco A., Busa T., Caberg J.-H., Campion D., Colombert V., Cordier M.-P., David A., Debray F.-G., Delrue M.-A., Doco-Fenzy M., Dunkhase-Heinl U., Edery P., Fagerberg C., Faivre L., Forzano F., Genevieve D., Gerard M., Giachino D., Guichet A., Guillin O., Heron D., Isidor B., Jacquette A., Jaillard S., Journel H., Keren B., Lacombe D., Lebon S., Le Caignec C., Lemaitre M.-P., Lespinasse J., Mathieu-Dramart M., Mercier S., Mignot C., Missirian C., Petit F., Pilekaer Sorensen K., Pinson L., Plessis G., Prieur F., Raymond A., Rooryck-Thambo C., Rossi M., Sanlaville D., Schlott Kristiansen B., Schluth-Bolard C., Till M., Van Haelst M., Van Maldergem L., Alupay H., Aaronson B., Ackerman S., Ankenman K., Anwar A., Atwell C., Bowe A., Beaudet A.L., Benedetti M., Berg J., Berman J., Berry L.N., Bibb A.L., Blaskey L., Brennan J., Brewton C.M., Buckner R., Bukshpun P., Burko J., Cali P., Cerban B., Chang Y., Cheong M.
مصطلحات موضوعية: Brain, Human, Magnetic Resonance Imaging, Neuroimaging, DNA Copy Number Variation, Schizophrenia
Relation: info:eu-repo/semantics/altIdentifier/pmid/34285187; info:eu-repo/semantics/altIdentifier/wos/WOS:000674910100001; volume:11; issue:1; firstpage:399; lastpage:408; numberofpages:10; journal:TRANSLATIONAL PSYCHIATRY; http://hdl.handle.net/2318/1808624; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85111690086; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8292542/pdf/41398_2021_Article_1490.pdf
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6Academic Journal
المؤلفون: Roux-Levy, Pierre-Henry, Sanlaville, D., De Freminville, B., Touraine, R., Masurel, A., Gueneau, I., Cotinaud-Ricou, A., Chancenotte, S., Debomy, F., Minot, D., Bournez, M., Rousseau, I., Daniel, S., Gautier, E., Lacombe, D., Taupiac, E., Odent, S., Mikaty, M., Manouvrier, Sylvie, Ghoumid, Jamal, Geneviève, D., Lehman, N., Busa, T., Edery, C. P., Cornaton, J., Gallard, J., Héron, D., Rastel, C., Thauvin-Robinet, C., Verloes, A., Binquet, C., Faivre, L., Lejeune, Catherine
المساهمون: Université de Lille, CHU Lille, FHU TRANSLAD (CHU de Dijon), Centre Hospitalier Régional Universitaire CHU Lille CHRU Lille, Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 RADEME, CHU Dijon
مصطلحات موضوعية: Down syndrome, Intellectual deficiency, Multidisciplinary care, Social support, Educational support
Relation: European Journal of Medical Genetics; Eur J Med Genet; http://hdl.handle.net/20.500.12210/84171
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7Academic Journal
المؤلفون: Baer, S, Tuzin, N, Kang, PB, Mohammed, S, Kubota, M, van Ierland, Yvette, Busa, T, Rossi, M, Morel, G, Michot, C, Baujat, G, Durand, M, Obringer, C, Le May, N, Calmels, N, Laugel, V
المصدر: Baer , S , Tuzin , N , Kang , PB , Mohammed , S , Kubota , M , van Ierland , Y , Busa , T , Rossi , M , Morel , G , Michot , C , Baujat , G , Durand , M , Obringer , C , Le May , N , Calmels , N & Laugel , V 2021 , ' Growth charts in Cockayne syndrome type 1 and type 2 ' , European Journal of Medical Genetics , vol. 64 , no. 1 , 104105 . https://doi.org/10.1016/j.ejmg.2020.104105
مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01, name=EMC OR-01, /dk/atira/pure/sustainabledevelopmentgoals/zero_hunger, name=SDG 2 - Zero Hunger
وصف الملف: application/pdf
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8Academic Journal
المؤلفون: Tebani, A, Sudrié-Arnaud, B, Dabaj, I, Torre, S, Domitille, L, Snanoudj, S, Heron, B, Levade, T, Caillaud, C, Vergnaud, S, Saugier-Veber, P, Coutant, S, Dranguet, H, Froissart, R, Al Khouri, M, Alembik, Y, Baruteau, J, Arnoux, J-B, Brassier, A, Brehin, A-C, Busa, T, Cano, A, Chabrol, B, Coubes, C, Desguerre, I, Doco-Fenzy, M, Drenou, B, Elcioglu, NH, Elsayed, S, Fouilhoux, A, Poirsier, C, Goldenberg, A, Jouvencel, P, Kuster, A, Labarthe, F, Lazaro, L, Pichard, S, Rivera, S, Roche, S, Roggerone, S, Roubertie, A, Sigaudy, S, Spodenkiewicz, M, Tardieu, M, Vanhulle, C, Marret, S, Bekri, S
المصدر: Journal of Medical Genetics (2021) (In press).
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/10126669/1/Tebani_et_2021_JMG.pdf; https://discovery.ucl.ac.uk/id/eprint/10126669/
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9Academic Journal
المؤلفون: Modenato, C., Kumar, K., Moreau, C., Martin-Brevet, S., Huguet, G., Schramm, C., Jean-Louis, M., Martin, C.-O., Younis, N., Tamer, P., Douard, E., Thébault-Dagher, F., Côté, V., Charlebois, A.-R., Deguire, F., Maillard, A.M., Rodriguez-Herreros, B., Pain, A., Richetin, S., Addor, M.-C., Andrieux, J., Arveiler, B., Baujat, G., Sloan-Béna, F., Belfiore, M., Bonneau, D., Bouquillon, S., Boute, O., Brusco, A., Busa, T., CABERG, Jean-Hubert, Campion, D., Colombert, V., Cordier, M.-P., David, A., Debray, François-Guillaume, Delrue, M.-A., Doco-Fenzy, M., Dunkhase-Heinl, U., Edery, P., Fagerberg, C., Faivre, L., Forzano, F., Genevieve, D., Gérard, M., Giachino, D., Guichet, A., Guillin, O., Héron, D., Isidor, B., Jacquette, A., Jaillard, S., Journel, H., Keren, B., Lacombe, D., Lebon, S., Le Caignec, C., Lemaître, M.-P., Lespinasse, J., Mathieu-Dramart, M., Mercier, S., Mignot, C., Missirian, C., Petit, F., Pilekær Sørensen, K., Pinson, L., Plessis, G., Prieur, F., Raymond, A., Rooryck-Thambo, C., Rossi, M., Sanlaville, D., Schlott Kristiansen, B., Schluth-Bolard, C., Till, M., Van Haelst, M., Van Maldergem, L., Alupay, H., Aaronson, B., Ackerman, S., Ankenman, K., Anwar, A., Atwell, C., Bowe, A., Beaudet, A.L., Benedetti, M., Berg, J., Berman, J., Berry, L.N., Bibb, A.L., Blaskey, L., Brennan, J., Brewton, C.M., Buckner, R., Bukshpun, P., Burko, J., Cali, P., Cerban, B., Chang, Y., Cheong, M., Chow, V., Chu, Z., Chudnovskaya, D., Cornew, L., Dale, C., Dell, J., Dempsey, A.G., Deschamps, T., Earl, R., Edgar, J., Elgin, J., Olson, J.E., Evans, Y.L., Findlay, A., Fischbach, G.D., Fisk, C., Fregeau, B., Gaetz, B., Gaetz, L., Garza, S., Gerdts, J., Glenn, O., Gobuty, S.E., Golembski, R., Greenup, M., Heiken, K., Hines, K., Hinkley, L., Jackson, F.I., Jenkins, J., Jeremy, R.J., Johnson, K., Kanne, S.M., Kessler, S., Khan, S.Y., Ku, M., Kuschner, E., Laakman, A.L., Lam, P., Lasala, M.W., Lee, H., LaGuerre, K., Levy, S., Cavanagh, A.L., Llorens, A.V., Campe, K.L., Luks, T.L., Marco, E.J., Martin, S., Martin, A.J., Marzano, G., Masson, C., McGovern, K.E., Keehn, R.M.N., Miller, D.T., Miller, F.K., Moss, T.J., Murray, R., Nagarajan, S.S., Nowell, K.P., Owen, J., Paal, A.M., Packer, A., Page, P.Z., Paul, B.M., Peters, A., Peterson, D., Poduri, A., Pojman, N.J., Porche, K., Proud, M.B., Qasmieh, S., Ramocki, M.B., Reilly, B., Roberts, T.P.L., Shaw, D., Sinha, T., Smith-Packard, B., Gallagher, A.S., Swarnakar, V., Thieu, T., Triantafallou, C., Vaughan, R., Wakahiro, M., Wallace, A., Ward, T., Wenegrat, J., Wolken, A., Melie-Garcia, L., Kushan, L., Silva, A.I., van den Bree, M.B.M., Linden, D.E.J., Owen, M.J., Hall, J., Lippé, S., Chakravarty, M., Bzdok, D., Montreal Neurological Institute, McGill University, Bearden, C.E., Draganski, B., Jacquemont, S., 16p11.2 European Consortium, Simons Searchlight Consortium
المصدر: Translational Psychiatry, 11 (1) (2021)
مصطلحات موضوعية: Life sciences, Genetics & genetic processes, Sciences du vivant, Génétique & processus génétiques
Relation: urn:issn:2158-3188
URL الوصول: https://orbi.uliege.be/handle/2268/297321
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10Academic Journal
المؤلفون: Cleynen I., Engchuan W., Hestand M. S., Heung T., Holleman A. M., Johnston H. R., Monfeuga T., McDonald-McGinn D. M., Gur R. E., Morrow B. E., Swillen A., Vorstman J. A. S., Bearden C. E., Chow E. W. C., van den Bree M., Emanuel B. S., Vermeesch J. R., Warren S. T., Owen M. J., Chopra P., Cutler D. J., Duncan R., Kotlar A. V., Mulle J. G., Voss A. J., Zwick M. E., Diacou A., Golden A., Guo T., Lin J. -R., Wang T., Zhang Z., Zhao Y., Marshall C., Merico D., Jin A., Lilley B., Salmons H. I., Tran O., Holmans P., Pardinas A., Walters J. T. R., Demaerel W., Boot E., Butcher N. J., Costain G. A., Lowther C., Evers R., van Amelsvoort T. A. M. J., van Duin E., Vingerhoets C., Breckpot J., Devriendt K., Vergaelen E., Vogels A., Crowley T. B., McGinn D. E., Moss E. M., Sharkus R. J., Unolt M., Zackai E. H., Calkins M. E., Gallagher R. S., Gur R. C., Tang S. X., Fritsch R., Ornstein C., Repetto G. M., Breetvelt E., Duijff S. N., Fiksinski A., Moss H., Niarchou M., Murphy K. C., Prasad S. E., Daly E. M., Gudbrandsen M., Murphy C. M., Murphy D. G., Buzzanca A., Fabio F. D., Digilio M. C., Pontillo M., Marino B., Vicari S., Coleman K., Cubells J. F., Ousley O. Y., Carmel M., Gothelf D., Mekori-Domachevsky E., Michaelovsky E., Weinberger R., Weizman A., Kushan L., Jalbrzikowski M., Armando M., Eliez S., Sandini C., Schneider M., Bena F. S., Antshel K. M., Fremont W., Kates W. R., Belzeaux R., Busa T., Philip N., Campbell L. E., McCabe K. L., Hooper S. R., Schoch K., Shashi V., Simon T. J., Tassone F., Arango C., Fraguas D., Garcia-Minaur S., Morey-Canyelles J., Rosell J., Suner D. H., Raventos-Simic J., Epstein M. P., Williams N. M., Bassett A. S.
المساهمون: Cleynen, I., Engchuan, W., Hestand, M. S., Heung, T., Holleman, A. M., Johnston, H. R., Monfeuga, T., McDonald-McGinn, D. M., Gur, R. E., Morrow, B. E., Swillen, A., Vorstman, J. A. S., Bearden, C. E., Chow, E. W. C., van den Bree, M., Emanuel, B. S., Vermeesch, J. R., Warren, S. T., Owen, M. J., Chopra, P., Cutler, D. J., Duncan, R., Kotlar, A. V., Mulle, J. G., Voss, A. J., Zwick, M. E., Diacou, A., Golden, A., Guo, T., Lin, J. -R., Wang, T., Zhang, Z., Zhao, Y., Marshall, C., Merico, D., Jin, A., Lilley, B., Salmons, H. I., Tran, O., Holmans, P., Pardinas, A., Walters, J. T. R., Demaerel, W., Boot, E., Butcher, N. J., Costain, G. A., Lowther, C., Evers, R., van Amelsvoort, T. A. M. J., van Duin, E., Vingerhoets, C., Breckpot, J., Devriendt, K., Vergaelen, E., Vogels, A., Crowley, T. B., McGinn, D. E., Moss, E. M., Sharkus, R. J., Unolt, M., Zackai, E. H., Calkins, M. E., Gallagher, R. S., Gur, R. C., Tang, S. X., Fritsch, R., Ornstein, C., Repetto, G. M., Breetvelt, E., Duijff, S. N., Fiksinski, A., Moss, H., Niarchou, M., Murphy, K. C., Prasad, S. E., Daly, E. M., Gudbrandsen, M., Murphy, C. M., Murphy, D. G., Buzzanca, A., Fabio, F. D., Digilio, M. C., Pontillo, M., Marino, B., Vicari, S., Coleman, K., Cubells, J. F., Ousley, O. Y., Carmel, M., Gothelf, D., Mekori-Domachevsky, E., Michaelovsky, E., Weinberger, R., Weizman, A., Kushan, L., Jalbrzikowski, M., Armando, M., Eliez, S., Sandini, C., Schneider, M.
مصطلحات موضوعية: genetic, 22q11deletion syndrome, schizophrenia
Relation: info:eu-repo/semantics/altIdentifier/pmid/32015465; info:eu-repo/semantics/altIdentifier/wos/WOS:000510821800003; journal:MOLECULAR PSYCHIATRY; http://hdl.handle.net/11573/1486440; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85079175539
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11Academic Journal
المؤلفون: Lessel, D., Zeitler, D.M., Reijnders, M.R.F., Kazantsev, A., Nia, F.H., Bartholomaus, A., Martens, V., Bruckmann, A., Graus, V., McConkie-Rosell, A., McDonald, M., Lozic, B., Tan, E.S., Gerkes, E., Johannsen, J., Denecke, J., Telegrafi, A., Zonneveld-Huijssoon, E., Lemmink, H.H., Cham, B.W.M., Kovacevic, T., Ramsdell, L., Foss, K., Le Duc, D., Mitter, D., Syrbe, S., Merkenschlager, A., Sinnema, M., Panis, B., Lazier, J., Osmond, M., Hartley, T., Mortreux, J., Busa, T., Missirian, C., Prasun, P., Luttgen, S., Mannucci, I., Lessel, I., Schob, C., Kindler, S., Pappas, J., Rabin, R., Willemsen, M., Gardeitchik, T., Lohner, K., Rump, P., Dias, K.R., Evans, C.A., Andrews, P.I., Kreienkamp, Hans-Jurgen
المصدر: Lessel , D , Zeitler , D M , Reijnders , M R F , Kazantsev , A , Nia , F H , Bartholomaus , A , Martens , V , Bruckmann , A , Graus , V , McConkie-Rosell , A , McDonald , M , Lozic , B , Tan , E S , Gerkes , E , Johannsen , J , Denecke , J , Telegrafi , A , Zonneveld-Huijssoon , E , Lemmink , H H , Cham , B W M , Kovacevic , T , Ramsdell , L , Foss , K ....
مصطلحات موضوعية: argonaute proteins, cleavage, crystal-structure, gene, intellectual disability, micrornas, molecular-dynamics, phosphorylation, recognition, structural basis
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12Academic Journal
المؤلفون: Brunklaus, A, Du, J, Steckler, F, Ghanty, II, Johannesen, KM, Fenger, CD, Schorge, S, Baez-Nieto, D, Wang, H-R, Allen, A, Pan, JQ, Lerche, H, Heyne, H, Symonds, JD, Zuberi, SM, Sanders, S, Sheidley, BR, Craiu, D, Olson, HE, Weckhuysen, S, DeJonge, P, Helbig, I, Van Esch, H, Busa, T, Milh, M, Isidor, B, Depienne, C, Poduri, A, Campbell, AJ, Dimidschstein, J, Møller, RS, Lal, D
المصدر: Epilepsia , 61 (3) pp. 387-399. (2020)
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/10093116/3/Schorge_1Brunklaus%20Main_Manuscript%20for%20uploading.pdf; https://discovery.ucl.ac.uk/id/eprint/10093116/
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المؤلفون: Denomme-Pichon A. -S., Bruel A. -L., Duffourd Y., Safraou H., Thauvin-Robinet C., Tran Mau-Them F., Philippe C., Vitobello A., Jean-Marcais N., Moutton S., Thevenon J., Faivre L., Matalonga L., de Boer E., Gilissen C., Hoischen A., Kleefstra T., Pfundt R., de Vries B. B. A., Willemsen M. H., Vissers L. E. L. M., Jackson A., Banka S., Clayton-Smith J., Benetti E., Fallerini C., Renieri A., Ciolfi A., Dallapiccola B., Pizzi S., Radio F. C., Tartaglia M., Ellwanger K., Graessner H., Haack T. B., Zurek B., Havlovicova M., Macek M., Ryba L., Schwarz M., Votypka P., Lopez-Martin E., Posada M., Mencarelli M. A., Rooryck C., Trimouille A., Verloes A., Abbott K. M., Kerstjens M., Martin E. L., Maystadt I., Morleo M., Nigro V., Pinelli M., Riess O., Agathe J. -M. D. S., Santen G. W. E., Thauvin C., Torella A., Vissers L., Zguro K., Boer E. D., Cohen E., Danis D., Gao F., Horvath R., Johari M., Johanson L., Li S., Morsy H., Nelson I., Paramonov I., te Paske I. B. A. W., Robinson P., Savarese M., Steyaert W., Topf A., van der Velde J. K., Vandrovcova J., Ossowski S., Demidov G., Sturm M., Schulze-Hentrich J. M., Schule R., Xu J., Kessler C., Wayand M., Synofzik M., Wilke C., Traschutz A., Schols L., Hengel H., Lerche H., Kegele J., Heutink P., Brunner H., Scheffer H., Hoogerbrugge N., 't Hoen P. A. C., Sablauskas K., de Voer R. M., Kamsteeg E. -J., van de Warrenburg B., van Os N., Paske I. T., Janssen E., Steehouwer M., Yaldiz B., Brookes A. J., Veal C., Gibson S., Maddi V., Mehtarizadeh M., Riaz U., Warren G., Dizjikan F. Y., Shorter T., Straub V., Bettolo C. M., Manera J. D., Hambleton S., Engelhardt K., Alexander E., Peyron C., Pelissier A., Beltran S., Gut I. G., Laurie S., Piscia D., Papakonstantinou A., Bullich G., Corvo A., Fernandez-Callejo M., Hernandez C., Pico D., Lochmuller H., Gumus G., Bros-Facer V., Rath A., Hanauer M., Lagorce D., Hongnat O., Chahdil M., Lebreton E., Stevanin G., Durr A., Davoine C. -S., Guillot-Noel L., Heinzmann A., Coarelli G., Bonne G., Evangelista T., Allamand V., Ben Yaou R., Metay C., Eymard B., Atalaia A., Stojkovic T., Turnovec M., Thomasova D., Kremlikova R. P., Frankova V., Liskova P., Dolezalova P., Parkinson H., Keane T., Freeberg M., Thomas C., Spalding D., Robert G., Costa A., Patch C., Hanna M., Houlden H., Reilly M., Efthymiou S., Cali E., Magrinelli F., Sisodiya S. M., Rohrer J., Muntoni F., Zaharieva I., Sarkozy A., Timmerman V., Baets J., de Vries G., De Winter J., Beijer D., de Jonghe P., Van de Vondel L., De Ridder W., Weckhuysen S., Mutarelli M., Varavallo A., Banfi S., Musacchia F., Piluso G., Ferlini A., Selvatici R., Gualandi F., Bigoni S., Rossi R., Neri M., Aretz S., Spier I., Sommer A. K., Peters S., Oliveira C., Pelaez J. G., Matos A. R., Jose C. S., Ferreira M., Gullo I., Fernandes S., Garrido L., Ferreira P., Carneiro F., Swertz M. A., Johansson L., van der Vries G., Neerincx P. B., Ruvolo D., Kerstjens Frederikse W. S., Zonneveld-Huijssoon E., Roelofs-Prins D., van Gijn M., Kohler S., Metcalfe A., Drunat S., Heron D., Mignot C., Keren B., Lacombe D., Capella G., Valle L., Holinski-Feder E., Laner A., Steinke-Lange V., Cilio M. -R., Carpancea E., Depondt C., Lederer D., Sznajer Y., Duerinckx S., Mary S., Macaya A., Cazurro-Gutierrez A., Perez-Duenas B., Munell F., Jarava C. F., Maso L. B., Marce-Grau A., Colobran R., Hackman P., Udd B., Hemelsoet D., Dermaut B., Schuermans N., Poppe B., Verdin H., Osorio A. N., Depienne C., Roos A., Cordts I., Deschauer M., Striano P., Zara F., Riva A., Iacomino M., Uva P., Scala M., Scudieri P., Basak A. N., Claeys K., Boztug K., Haimel M., W. E G., Ruivenkamp C. A. L., Natera de Benito D., Thompson R., Polavarapu K., Grimbacher B., Zaganas I., Kokosali E., Lambros M., Evangeliou A., Spilioti M., Kapaki E., Bourbouli M., Balicza P., Molnar M. J., De la Paz M. P., Sanchez E. B., Delgado B. M., Alonso Garcia de la Rosa F. J., Schrock E., Rump A., Mei D., Vetro A., Balestrini S., Guerrini R., Chinnery P. F., Ratnaike T., Schon K., Maver A., Peterlin B., Munchau A., Lohmann K., Herzog R., Pauly M., May P., Beeson D., Cossins J., Furini S., Afenjar A., Goldenberg A., Masurel A., Phan A., Dieux-Coeslier A., Fargeot A., Guerrot A. -M., Toutain A., Molin A., Sorlin A., Putoux A., Jouret B., Laudier B., Demeer B., Doray B., Bonniaud B., Isidor B., Gilbert-Dussardier B., Leheup B., Reversade B., Paul C., Vincent-Delorme C., Neiva C., Poirsier C., Quelin C., Chiaverini C., Coubes C., Francannet C., Colson C., Desplantes C., Wells C., Goizet C., Sanlaville D., Amram D., Lehalle D., Genevieve D., Gaillard D., Zivi E., Sarrazin E., Steichen E., Schaefer E., Lacaze E., Jacquemin E., Bongers E., Kilic E., Colin E., Giuliano F., Prieur F., Laffargue F., Morice-Picard F., Petit F., Cartault F., Feillet F., Baujat G., Morin G., Diene G., Journel H., Perthus I., Lespinasse J., Alessandri J. -L., Amiel J., Martinovic J., Delanne J., Albuisson J., Lambert L., Perrin L., Ousager L. B., Van Maldergem L., Pinson L., Ruaud L., Samimi M., Bournez M., Bonnet-Dupeyron M. N., Vincent M., Jacquemont M. -L., Cordier-Alex M. -P., Gerard-Blanluet M., Willems M., Spodenkiewicz M., Doco-Fenzy M., Rossi M., Renaud M., Fradin M., Mathieu M., Holder-Espinasse M. H., Houcinat N., Hanna N., Leperrier N., Chassaing N., Philip N., Boute O., Van Kien P. K., Parent P., Bitoun P., Sarda P., Vabres P., Jouk P. -S., Touraine R., El Chehadeh S., Whalen S., Marlin S., Passemard S., Grotto S., Bellanger S. A., Blesson S., Nambot S., Naudion S., Lyonnet S., Odent S., Attie-Bitach T., Busa T., Drouin-Garraud V., Layet V., Bizaoui V., Cusin V., Capri Y., Alembik Y.
المساهمون: Unión Europea. Comisión Europea. H2020, Unión Europea. Comisión Europea. 7 Programa Marco, Instituto de Salud Carlos III, Instituto Nacional de Bioinformatica (España), Ministry of Health (República Checa), Ministry of Education, Youth and Sports (República Checa), Denomme-Pichon, A. -S., Bruel, A. -L., Duffourd, Y., Safraou, H., Thauvin-Robinet, C., Tran Mau-Them, F., Philippe, C., Vitobello, A., Jean-Marcais, N., Moutton, S., Thevenon, J., Faivre, L., Matalonga, L., de Boer, E., Gilissen, C., Hoischen, A., Kleefstra, T., Pfundt, R., de Vries, B. B. A., Willemsen, M. H., Vissers, L. E. L. M., Jackson, A., Banka, S., Clayton-Smith, J., Benetti, E., Fallerini, C., Renieri, A., Ciolfi, A., Dallapiccola, B., Pizzi, S., Radio, F. C., Tartaglia, M., Ellwanger, K., Graessner, H., Haack, T. B., Zurek, B., Havlovicova, M., Macek, M., Ryba, L., Schwarz, M., Votypka, P., Lopez-Martin, E., Posada, M., Mencarelli, M. A., Rooryck, C., Trimouille, A., Verloes, A., Abbott, K. M., Kerstjens, M., Martin, E. L., Maystadt, I., Morleo, M., Nigro, V., Pinelli, M., Riess, O., Agathe, J. -M. D. S., Santen, G. W. E., Thauvin, C., Torella, A., Vissers, L., Zguro, K., Boer, E. D., Cohen, E., Danis, D., Gao, F., Horvath, R., Johari, M., Johanson, L., Li, S., Morsy, H., Nelson, I., Paramonov, I., te Paske, I. B. A. W., Robinson, P., Savarese, M., Steyaert, W., Topf, A., van der Velde, J. K., Vandrovcova, J., Ossowski, S., Demidov, G., Sturm, M., Schulze-Hentrich, J. M., Schule, R., Xu, J., Kessler, C., Wayand, M., Synofzik, M., Wilke, C., Traschutz, A., Schols, L., Hengel, H., Lerche, H., Kegele, J., Heutink, P., Brunner, H., Scheffer, H., Hoogerbrugge, N., 't Hoen, P. A. C., Sablauskas, K., de Voer, R. M., Kamsteeg, E. -J., van de Warrenburg, B., van Os, N., Paske, I. T., Janssen, E., Steehouwer, M., Yaldiz, B., Brookes, A. J., Veal, C., Gibson, S., Maddi, V., Mehtarizadeh, M., Riaz, U., Warren, G., Dizjikan, F. Y., Shorter, T., Straub, V., Bettolo, C. M., Manera, J. D., Hambleton, S., Engelhardt, K., Alexander, E., Peyron, C., Pelissier, A., Beltran, S., Gut, I. G., Laurie, S., Piscia, D., Papakonstantinou, A., Bullich, G., Corvo, A., Fernandez-Callejo, M., Hernandez, C., Pico, D., Lochmuller, H., Gumus, G., Bros-Facer, V., Rath, A., Hanauer, M., Lagorce, D., Hongnat, O., Chahdil, M., Lebreton, E., Stevanin, G., Durr, A., Davoine, C. -S., Guillot-Noel, L., Heinzmann, A., Coarelli, G., Bonne, G., Evangelista, T., Allamand, V., Ben Yaou, R., Metay, C., Eymard, B., Atalaia, A., Stojkovic, T., Turnovec, M., Thomasova, D., Kremlikova, R. P., Frankova, V., Liskova, P., Dolezalova, P., Parkinson, H., Keane, T., Freeberg, M., Thomas, C., Spalding, D., Robert, G., Costa, A., Patch, C., Hanna, M., Houlden, H., Reilly, M., Efthymiou, S., Cali, E., Magrinelli, F., Sisodiya, S. M., Rohrer, J., Muntoni, F., Zaharieva, I., Sarkozy, A., Timmerman, V., Baets, J., de Vries, G., De Winter, J., Beijer, D., de Jonghe, P., Van de Vondel, L., De Ridder, W., Weckhuysen, S., Mutarelli, M., Varavallo, A., Banfi, S., Musacchia, F., Piluso, G., Ferlini, A., Selvatici, R., Gualandi, F., Bigoni, S., Rossi, R., Neri, M., Aretz, S., Spier, I., Sommer, A. K., Peters, S., Oliveira, C., Pelaez, J. G., Matos, A. R., Jose, C. S., Ferreira, M., Gullo, I., Fernandes, S., Garrido, L., Ferreira, P., Carneiro, F., Swertz, M. A., Johansson, L., van der Vries, G., Neerincx, P. B., Ruvolo, D., Kerstjens Frederikse, W. S., Zonneveld-Huijssoon, E., Roelofs-Prins, D., van Gijn, M., Kohler, S., Metcalfe, A., Drunat, S., Heron, D., Mignot, C., Keren, B., Lacombe, D., Capella, G., Valle, L., Holinski-Feder, E., Laner, A., Steinke-Lange, V., Cilio, M. -R., Carpancea, E., Depondt, C., Lederer, D., Sznajer, Y., Duerinckx, S., Mary, S., Macaya, A., Cazurro-Gutierrez, A., Perez-Duenas, B., Munell, F., Jarava, C. F., Maso, L. B., Marce-Grau, A., Colobran, R., Hackman, P., Udd, B., Hemelsoet, D., Dermaut, B., Schuermans, N., Poppe, B., Verdin, H., Osorio, A. N., Depienne, C., Roos, A., Cordts, I., Deschauer, M., Striano, P., Zara, F., Riva, A., Iacomino, M., Uva, P., Scala, M., Scudieri, P., Basak, A. N., Claeys, K., Boztug, K., Haimel, M., W. E, G., Ruivenkamp, C. A. L., Natera de Benito, D., Thompson, R., Polavarapu, K., Grimbacher, B., Zaganas, I., Kokosali, E., Lambros, M., Evangeliou, A., Spilioti, M., Kapaki, E., Bourbouli, M., Balicza, P., Molnar, M. J., De la Paz, M. P., Sanchez, E. B., Delgado, B. M., Alonso Garcia de la Rosa, F. J., Schrock, E., Rump, A., Mei, D., Vetro, A., Balestrini, S., Guerrini, R., Chinnery, P. F., Ratnaike, T., Schon, K., Maver, A., Peterlin, B., Munchau, A., Lohmann, K., Herzog, R., Pauly, M., May, P., Beeson, D., Cossins, J., Furini, S., Afenjar, A., Goldenberg, A., Masurel, A., Phan, A., Dieux-Coeslier, A., Fargeot, A., Guerrot, A. -M., Toutain, A., Molin, A., Sorlin, A., Putoux, A., Jouret, B., Laudier, B., Demeer, B., Doray, B., Bonniaud, B., Isidor, B., Gilbert-Dussardier, B., Leheup, B., Reversade, B., Paul, C., Vincent-Delorme, C., Neiva, C., Poirsier, C., Quelin, C., Chiaverini, C., Coubes, C., Francannet, C., Colson, C., Desplantes, C., Wells, C., Goizet, C., Sanlaville, D., Amram, D., Lehalle, D., Genevieve, D., Gaillard, D., Zivi, E., Sarrazin, E., Steichen, E., Schaefer, E., Lacaze, E., Jacquemin, E., Bongers, E., Kilic, E., Colin, E., Giuliano, F., Prieur, F., Laffargue, F., Morice-Picard, F., Petit, F., Cartault, F., Feillet, F., Baujat, G., Morin, G., Diene, G., Journel, H., Perthus, I., Lespinasse, J., Alessandri, J. -L., Amiel, J., Martinovic, J., Delanne, J., Albuisson, J., Lambert, L., Perrin, L., Ousager, L. B., Van Maldergem, L., Pinson, L., Ruaud, L., Samimi, M., Bournez, M., Bonnet-Dupeyron, M. N., Vincent, M., Jacquemont, M. -L., Cordier-Alex, M. -P., Gerard-Blanluet, M., Willems, M., Spodenkiewicz, M., Doco-Fenzy, M., Rossi, M., Renaud, M., Fradin, M., Mathieu, M., Holder-Espinasse, M. H., Houcinat, N., Hanna, N., Leperrier, N., Chassaing, N., Philip, N., Boute, O., Van Kien, P. K., Parent, P., Bitoun, P., Sarda, P., Vabres, P., Jouk, P. -S., Touraine, R., El Chehadeh, S., Whalen, S., Marlin, S., Passemard, S., Grotto, S., Bellanger, S. A., Blesson, S., Nambot, S., Naudion, S., Lyonnet, S., Odent, S., Attie-Bitach, T., Busa, T., Drouin-Garraud, V., Layet, V., Bizaoui, V., Cusin, V., Capri, Y., Alembik, Y., Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center]
المصدر: Genetics in Medicine, 25
GENETICS IN MEDICINE
Solve-RD DITF-ITHACA 2023, ' A Solve-RD ClinVar-based reanalysis of 1,522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 25, no. 4, pp. 100018 . https://doi.org/10.1016/j.gim.2023.100018
Genetics in Medicine, 25, 4مصطلحات موضوعية: Exome reanalysis, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Multidisciplinaire, généralités & autres [D99] [Sciences de la santé humaine], Developmental disorder, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Biology and Life Sciences, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], ClinVar, Rare diseases, All institutes and research themes of the Radboud University Medical Center, Medicine and Health Sciences, Genetics & genetic processes [F10] [Life sciences], Génétique & processus génétiques [F10] [Sciences du vivant], Multidisciplinary, general & others [D99] [Human health sciences], Exome reanalysi, Genetics (clinical)
وصف الملف: application/pdf
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14Academic Journal
المؤلفون: Fergelot, P, Van Belzen, M, Van Gils, J, Afenjar, A, Armour, CM, Arveiler, B, Beets, L, Burglen, L, Busa, T, Collet, M, Deforges, J, de Vries, BBA, Garrido, ED, Dorison, N, Dupont, J, Francannet, C, Garcia-Minaur, S, Vila, EG, Gebre-Medhin, S, Querol, BG, Genevieve, D, Gerard, M, Gervasini, CG, Goldenberg, A, Josifova, D, Lachlan, K, Maas, S, Maranda, B, Moilanen, JS, Nordgren, A, Parent, P, Rankin, J, Reardon, W, Rio, M, Roume, J, Shaw, A, Smigiel, R, Sojo, A, Solomon, B, Stembalska, A, Stumpel, C, Suarez, F, Terhal, P, Thomas, S, Touraine, R, Verloes, A, Vincent-Delorme, C, Wincent, J, Peters, DJM, Bartsch, O, Larizza, L, Lacombe, D, Hennekam, RC
المصدر: American journal of medical genetics. Part A. 170(12):3069-3082
مصطلحات موضوعية: Medicin och hälsovetenskap
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15Academic Journal
المؤلفون: Piard, J, Hawkes, L, Milh, M, Villard, L, Borgatti, R, Romaniello, R, Fradin, M, Capri, Y, Heron, D, Nougues, MC, Nava, C, Arsene, OT, Shears, D, Taylor, J, Pagnamenta, A, Taylor, JC, Sogawa, Y, Johnson, D, Firth, H, Vasudevan, P, Jones, G, Nguyen-Morel, MA, Busa, T, Roubertie, A, van den Born, Myrthe, Brischoux-Boucher, E, Koenig, M, Mignot, C, Kini, U, Philippe, C
المصدر: Piard , J , Hawkes , L , Milh , M , Villard , L , Borgatti , R , Romaniello , R , Fradin , M , Capri , Y , Heron , D , Nougues , MC , Nava , C , Arsene , OT , Shears , D , Taylor , J , Pagnamenta , A , Taylor , JC , Sogawa , Y , Johnson , D , Firth , H , Vasudevan , P , Jones , G , Nguyen-Morel , MA , Busa , T , Roubertie , A , van den Born ....
مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01, name=EMC OR-01
وصف الملف: application/pdf
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16Academic Journal
المؤلفون: Zhao, Yingjie, Wang, Yujue, Johnston, H. Richard, Chow, Eva W. C., Vorstman, Jacob A. S., Vingerhoets, Claudia, van Amelsvoort, Therese, Gothelf, Doron, Swillen, Ann, Breckpot, Jeroen, Vermeesch, Joris R., Eliez, Stephan, Shi, Lijie, Schneider, Maude, van den Bree, MBM, Owen, MJ, Kates, WR, Repetto, GM, Shashi, V, Schoch, K, Bearden, CE, Digilio, MC, Unolt, M, McDonald-McGinn, Donna M., Putotto, C, Marino, B, Pontillo, M, Armando, M, Vicari, S, Angkustsiri, K, Campbell, Linda, Busa, T, Heine-Suñer, D, Murphy, KC, Crowley, T. Blaine, Murphy, D, García-Miñaúr, S, Fernández, L, International 22q11.2 Brain and Behavior Consortium (IBBC), Zhang, ZD, Goldmuntz, E, Gur, RE, Emanuel, BS, Zheng, D, Marshall, CR, McGinn, Daniel E., Bassett, AS, Wang, T, Morrow, BE, Tran, Oanh T., Miller, Daniella, Lin, Jhih-Rong, Zackai, Elaine
المساهمون: The University of Newcastle. College of Engineering, Science & Environment, School of Psychological Sciences
مصطلحات موضوعية: congenital heart disease, genetic modifiers, genes, heart defects, SDG 3, Sustainable Development Goals
Relation: n p j Genomic Medicine Vol. 8, no. 17; http://hdl.handle.net/1959.13/1488291; uon:52402
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17Academic Journal
المؤلفون: Chesneau, B., Aubert-Mucca, M., Fremont, F., Pechmeja, J., Soler, V., Isidor, B., Nizon, M., Dollfus, H., Kaplan, J., Fares-Taie, L., Rozet, J. M., Busa, T., Lacombe, D., Naudion, S., Amiel, J., Rio, M., Attie-Bitach, T., Lesage, C., Thouvenin, D., Odent, S., Morel, G., Vincent-Delorme, C., Boute, Odile, Vanlerberghe, Clemence, Dieux, Anne, Boussion, Simon, Faivre, L., Pinson, L., Laffargue, F., Le Guyader, G., Le Meur, G., Prieur, F., Lambert, V., Laudier, B., Cottereau, E., Ayuso, C., Corton-Pérez, M., Bouneau, L., Le Caignec, C., Gaston, V., Jeanton-Scaramouche, C., Dupin-Deguine, D., Calvas, P., Chassaing, N., Plaisancié, J.
المساهمون: Université de Lille, CHU Lille, Centre Hospitalier Régional Universitaire Lille CHRU Lille, Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 RADEME, Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364, CIC CHU ( Lille)/inserm
مصطلحات موضوعية: anterior segment dysgenesis, B3GLCT, CNV, FOXE3, microphthalmia, PAX6, Peters' anomaly, PITX3, SOX2
Relation: Clinical Genetics; Clin Genet; http://hdl.handle.net/20.500.12210/84162
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18Academic Journal
المؤلفون: Kuechler, A., Czeschik, J.C., Graf, E., Grasshoff, U., Hueffmeier, U., Busa, T., Beck-Woedl, S., Faivre, L., Riviere, J., Bader, I., Koch, J., Reis, A., Hehr, U., Rittinger, O., Sperl, W., Haack, T.B., Wieland, T., Engels, H., Prokisch, H., Strom, T.M., Luedecke, H., Wieczorek, D.
المصدر: Eur. J. Hum. Genet. 25, 183-191 (2017)
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/27901041; info:eu-repo/semantics/altIdentifier/wos/WOS:000394122900010; info:eu-repo/semantics/altIdentifier/isbn/1018-4813; info:eu-repo/semantics/alt; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=50815; urn:isbn:1018-4813; urn:issn:1018-4813; urn:issn:1476-5438
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19Academic Journal
المؤلفون: Sluijs, P.J. van der, Joosten, Marieke, Alby, C., Attié-Bitach, T., Gilmore, K., Dubourg, C., Fradin, M., Wang, T., Kurtz-Nelson, E.C., Ahlers, K.P., Arts, P., Barnett, C.P., Ashfaq, M., Baban, A., Born, M. van den, Borrie, S., Busa, T., Byrne, A., Carriero, M., Cesario, C., Chong, K., Cueto-González, A.M., Dempsey, J.C., Diderich, K.E.M., Doherty, D., Farholt, S., Gerkes, E.H., Gorokhova, S., Govaerts, L.C.P., Gregersen, P.A., Hickey, S.E., Lefebvre, M., Mari, F., Martinovic, Jelena, Northrup, H., O'Leary, M., Parbhoo, K., Patrier, S., Popp, B., Santos-Simarro, F., Stoltenburg, C., Thauvin-Robinet, C., Thompson, E., Vulto-van Silfhout, A.T., Zahir, F.R., Scott, H.S., Earl, R.K., Eichler, E.E., Vora, N.L., Wilnai, Y., Giordano, J.L., Wapner, R.J., Rosenfeld, J.A., Haak, M.C., Santen, G.W.E.
المصدر: Genetics in Medicine, 24, 8, pp. 1753-1760
مصطلحات موضوعية: Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience
Relation: https://repository.ubn.ru.nl//bitstream/handle/2066/282685/282685.pdf; https://repository.ubn.ru.nl/handle/2066/282685
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20Academic Journal
المؤلفون: Zhao Y., Diacou A., Johnston H. R., Musfee F. I., McDonald-McGinn D. M., McGinn D., Crowley T. B., Repetto G. M., Swillen A., Breckpot J., Vermeesch J. R., Kates W. R., Digilio M. C., Unolt M., Marino B., Pontillo M., Armando M., Di Fabio F., Vicari S., van den Bree M., Moss H., Owen M. J., Murphy K. C., Murphy C. M., Murphy D., Schoch K., Shashi V., Tassone F., Simon T. J., Shprintzen R. J., Campbell L., Philip N., Heine-Suner D., Garcia-Minaur S., Fernandez L., Antonarakis S. E., Biondi M., Boot E., Breetvelt E., Busa T., Butcher N., Buzzanca A., Carmel M., Cleynen I., Cutler D., Dallapiccola B., de la Fuente Sanches M. A., Epstein M. P., Evers R., Fritsch R., Algas F. G., Guo T., Gur R., Hestand M. S., Heung T., Hooper S., Jin A., Kushan-Wells L., Laorden-Nieto A. T., Lattanzi G., Marshall C., McCabe K., Michaelovsky E., Ornstein C., Silversides C., Tran O., van Duin E. D. A., Vergaelen E., Warren S. T., Weinberger R., Weizman A., Zhang Z., Zwick M., Bearden C. E., Vingerhoets C., van Amelsvoort T., Eliez S., Schneider M., Vorstman J. A. S., Gothelf D., Zackai E., Agopian A. J., Gur R. E., Bassett A. S., Emanuel B. S., Goldmuntz E., Mitchell L. E., Wang T., Morrow B. E.
المساهمون: Zhao, Y., Diacou, A., Johnston, H. R., Musfee, F. I., McDonald-McGinn, D. M., Mcginn, D., Crowley, T. B., Repetto, G. M., Swillen, A., Breckpot, J., Vermeesch, J. R., Kates, W. R., Digilio, M. C., Unolt, M., Marino, B., Pontillo, M., Armando, M., DI FABIO, Fabio, Vicari, S., van den Bree, M., Moss, H., Owen, M. J., Murphy, K. C., Murphy, C. M., Murphy, D., Schoch, K., Shashi, V., Tassone, F., Simon, T. J., Shprintzen, R. J., Campbell, L., Philip, N., Heine-Suner, D., Garcia-Minaur, S., Fernandez, L., Antonarakis, S. E., Biondi, M., Boot, E., Breetvelt, E., Busa, T., Butcher, N., Buzzanca, A., Carmel, M., Cleynen, I., Cutler, D., Dallapiccola, B., de la Fuente Sanches, M. A., Epstein, M. P., Evers, R., Fritsch, R., Algas, F. G., Guo, T., Gur, R., Hestand, M. S., Heung, T., Hooper, S., Jin, A., Kushan-Wells, L., Laorden-Nieto, A. T., Lattanzi, G., Marshall, C., Mccabe, K., Michaelovsky, E., Ornstein, C., Silversides, C., Tran, O., van Duin, E. D. A., Vergaelen, E., Warren, S. T., Weinberger, R., Weizman, A., Zhang, Z., Zwick, M., Bearden, C. E., Vingerhoets, C., van Amelsvoort, T., Eliez, S., Schneider, M., Vorstman, J. A. S., Gothelf, D., Zackai, E., Agopian, A. J., Gur, R. E., Bassett, A. S., Emanuel, B. S., Goldmuntz, E., Mitchell, L. E., Wang, T., Morrow, B. E.
مصطلحات موضوعية: chromosome 22q11.2 deletion syndrome, complex trait, congenital heart disease, conotruncal heart defect, copy number variation, CRKL, DiGeorge syndrome, genetic association, genetic modifier, haploinsufficiency, TBX1, Case-Control Studie, Chromosomes, Human, Pair 22, Cohort Studie, Female, Genome-Wide Association Study, Heart Defects, Congenital, Linkage Disequilibrium, Male, Phenotype, Segmental Duplications, Genomic, Chromosome Deletion, Polymorphism, Single Nucleotide
Relation: info:eu-repo/semantics/altIdentifier/pmid/31870554; info:eu-repo/semantics/altIdentifier/wos/WOS:000505170800003; volume:106; issue:1; firstpage:26; lastpage:40; numberofpages:15; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11573/1474798; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85077046877
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