لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

المؤلفون: Abascal, FBC, Acosta, R, Addleman, NJ, Adrian, J, Afzal, V, Aken, B, Ai, R, Akiyama, JA, Jammal, OA, Amrhein, H, Anderson, SM, Dileep, V, Ding, B, Djebali, S, Dobin, A, Dominguez, D, Donaldson, S, Drenkow, J, Dreszer, TR, Snyder, MP, Drier, Y, Duff, MO, Dunn, D, Sisu, C, Eastman, C, Ecker, JR, Edwards, MD, El-Ali, N, Andrews, GR, Antoshechkin, I, Ardlie, KG, Armstrong, J, Astley, M, Banerjee, B, Barkal, AA, Barnes, IHA, Barozzi, I, Barrell, D, Barson, G, Bates, D, Baymuradov, UK, Bazile, C, Beer, MA, Beik, S, Bender, MA, Bennett, R, Bouvrette, LPB, Bernstein, BE, Berry, A, Bhaskar, A, Bignell, A, Blue, SM, Bodine, DM, Boix, C, Boley, N, Borrman, T, Borsari, B, Boyle, AP, Brandsmeier, LA, Breschi, A, Bresnick, EH, Brooks, JA, Buckley, M, Burge, CB, Byron, R, Cahill, E, Cai, L, Cao, L, Carty, M, Castanon, RG, Castillo, A, Chaib, H, Chan, ET, Chee, DR, Chee, S, Chen, H, Chen, JY, Chen, S, Cherry, JM, Chhetri, SB, Choudhary, JS, Chrast, J, Chung, D, Clarke, D, Cody, NAL, Coppola, CJ, Coursen, J, D’Ippolito, AM, Dalton, S, Danyko, C, Davidson, C, Davila-Velderrain, J, Davis, CA, Dekker, J, Deran, A, DeSalvo, G, Despacio-Reyes, G, Dewey, CN, Dickel, DE, Diegel, M, Diekhans, M

المساهمون: The ENCODE Project Consortium

وصف الملف: Print-Electronic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od_______900::1cb2b1d741b083eaf654b980b7f818c8
https://bura.brunel.ac.uk/handle/2438/26555

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

المؤلفون: De Nittis P., Efthymiou S., Sarre A., Guex N., Chrast J., Putoux A., Sultan T., Raza Alvi J., Ur Rahman Z., Zafar F., Rana N., Rahman F., Anwar N., Maqbool S., Zaki M. S., Gleeson J. G., Murphy D., Galehdari H., Shariati G., Mazaheri N., Sedaghat A., Lesca G., Chatron N., Salpietro V., Christoforou M., Houlden H., Simonds W. F., Pedrazzini T., Maroofian R., Reymond A., SYNAPS STUDY GROUP: SYNAPS Study Group: Stanislav Groppa, Blagovesta Marinova Karashova, Wolfgang Nachbauer, Sylvia Boesch, Larissa Arning, Dagmar Timmann, Bru Cormand, Belen Pérez-Dueñas, Jatinder S Goraya, Tipu Sultan, Jun Mine, Daniela Avdjieva, Hadil Kathom, Radka Tincheva, Selina Banu, Mercedes Pineda-Marfa, Pierangelo Veggiotti, Michel D. Ferrari, Arn M. J. M. van den Maagdenberg, Alberto Verrotti, Giangluigi Marseglia, Salvatore Savasta, Mayte García-Silva, Alfons Macaya Ruiz, Barbara Garavaglia, Eugenia Borgione, Simona Portaro, Benigno Monteagudo Sanchez, Richard Boles, Savvas Papacostas, Michail Vikelis, Eleni Zamba Papanicolaou, Efthymios Dardiotis, Shazia Maqbool, Shahnaz Ibrahim, Salman Kirmani, Nuzhat Noureen Rana, Osama Atawneh, George Koutsis, Salvatore Mangano, Carmela Scuderi, Giovanna Morello, Tanya Stojkovic, Massimo Zollo, Gali Heimer, Yves A. Dauvilliers, Pasquale Striano, Issam Al-Khawaja, Fuad Al-Mutairi, Hamed Sherifa.

المساهمون: University of Lausanne (UNIL), University College of London [London] (UCL), Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL), Children's Hospital [Lahore], Institute of Child Health [Lahore], Children's Hospital [Multan], Institute of Child Health [Multan], National Research Centre - NRC (EGYPT), Howard Hughes Medical Institute (HHMI), Shahid Chamran University of Ahvaz (SCU), Ahvaz Jundishapur University of Medical Sciences (AJUMS), National Institutes of Health [Bethesda] (NIH), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Neuropsychiatrie : recherche épidémiologique et clinique (PSNREC), Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Université Montpellier 1 (UM1)-Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Lausanne = University of Lausanne (UNIL), Herrada, Anthony, P., De Nitti, S., Efthymiou, A., Sarre, N., Guex, J., Chrast, A., Putoux, T., Sultan, J., Raza Alvi, Z., Ur Rahman, F., Zafar, N., Rana, F., Rahman, N., Anwar, S., Maqbool, M. S., Zaki, J. G., Gleeson, D., Murphy, H., Galehdari, G., Shariati, N., Mazaheri, A., Sedaghat, G., Lesca, N., Chatron, V., Salpietro, M., Christoforou, H., Houlden, W. F., Simond, T., Pedrazzini, R., Maroofian, A., Reymond, STUDY GROUP: SYNAPS Study Group: Stanislav Groppa, Synap, Marinova Karashova, Blagovesta, Nachbauer, Wolfgang, Boesch, Sylvia, Arning, Larissa, Timmann, Dagmar, Cormand, Bru, Pérez-Dueñas, Belen, S Goraya, Jatinder, Sultan, Tipu, Mine, Jun, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Banu, Selina, Pineda-Marfa, Mercede, Veggiotti, Pierangelo, Ferrari, Michel D., van den Maagdenberg, Arn M. J. M., Verrotti, Alberto, Marseglia, Giangluigi, Savasta, Salvatore, García-Silva, Mayte, Macaya Ruiz, Alfon, Garavaglia, Barbara, Borgione, Eugenia, Portaro, Simona, Monteagudo Sanchez, Benigno, Boles, Richard, Papacostas, Savva, Vikelis, Michail, Zamba Papanicolaou, Eleni, Dardiotis, Efthymio, Maqbool, Shazia, Ibrahim, Shahnaz, Kirmani, Salman, Noureen Rana, Nuzhat, Atawneh, Osama, Koutsis, George, Mangano, Salvatore, Scuderi, Carmela, Morello, Giovanna, Stojkovic, Tanya, Zollo, Massimo, Heimer, Gali, Dauvilliers, Yves A., Striano, Pasquale, Al-Khawaja, Issam, Al-Mutairi, Fuad, Sherifa., Hamed

المصدر: Dipòsit Digital de la UB
Universidad de Barcelona
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, In press, ⟨10.1136/jmedgenet-2020-107015⟩

مصطلحات موضوعية: Male, 0301 basic medicine, Developmental Disabilities, Batecs cardíacs, 0302 clinical medicine, Neurodevelopmental disorder, Heart Rate, Medicine, Child, Genetics (clinical), Mice, Knockout, Gnb5-null mouse models, GTP-Binding Protein beta Subunits, Cardiac muscle, Heart, Syndrome, IDDCA, Functional Genomics, Pedigree, [SDV.MHEP.CSC] Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, cardiac conduction anomalies, Gnb5 -null mouse models, GNB5 variants, medicine.anatomical_structure, Child, Preschool, [SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Female, medicine.symptom, Signal Transduction, Bradycardia, Cardiac function curve, Gnb5 -null mouse model, medicine.medical_specialty, Adolescent, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Contractility, Young Adult, Brain damage, 03 medical and health sciences, [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, GNB5variants, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Internal medicine, Exome Sequencing, Heart rate, Genetics, Animals, Humans, business.industry, Gene Expression Profiling, Heart beat, Proteins, Cardiac arrhythmia, Arrhythmias, Cardiac, GNB5 variant, medicine.disease, Mice, Inbred C57BL, Autonomic nervous system, 030104 developmental biology, Endocrinology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Mutation, Lesions cerebrals, cardiac conduction anomalie, business, Proteïnes, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c9ebc9c3b81e32161c102409b0091df
https://doi.org/10.1136/jmedgenet-2020-107015

المؤلفون: Jacquemont, S, Reymond, A, Zufferey, F, Harewood, L, Walters, RG, Kutalik, Z, Martinet, D, Shen, YP, Valsesia, A, Beckmann, ND, Thorleifsson, G, Belfiore, M, Bouquillon, S, Campion, D, de Leeuw, N, de Vries, BBA, Esko, T, Fernandez, BA, Fernandez-Aranda, F, Fernandez-Real, JM, Gratacos, M, Guilmatre, A, Hoyer, J, Jarvelin, MR, Kooy, RF, Kurg, A, Le Caignec, C, Mannik, K, Platt, OS, Sanlaville, D, Van Haelst, MM, Gomez, SV, Walha, F, Wu, BL, Yu, YG, Aboura, A, Addor, MC, Alembik, Y, Antonarakis, SE, Arveiler, B, Barth, M, Bednarek, N, Bena, F, Bergmann, S, Beri, M, Bernardini, L, Blaumeiser, B, Bonneau, D, Bottani, A, Boute, O, Brunner, HG, Cailley, D, Callier, P, Chiesa, J, Chrast, J, Coin, L, Coutton, C, Cuisset, JM, Cuvellier, JC, David, A, de Freminville, B, Delobel, B, Delrue, MA, Demeer, B, Descamps, D, Didelot, G, Dieterich, K, Disciglio, V, Doco-Fenzy, M, Drunat, S, Duban-Bedu, B, Dubourg, C, Moustafa, JSE, Elliott, P, Faas, BHW, Faivre, L, Faudet, A, Fellmann, F, Ferrarini, A, Fisher, R, Flori, E, Forer, L, Gaillard, D, Gerard, M, Gieger, C, Gimelli, S, Gimelli, G, Grabe, HJ, Guichet, A, Guillin, O, Hartikainen, AL, Heron, D, Hippolyte, L, Holder, M, Homuth, G, Isidor, B, Jaillard, S, Jaros, Z, Jimenez-Murcia, S, Helas, GJ, Jonveaux, P, Kaksonen, S, Keren, B, Kloss-Brandstatter, A, Knoers, NVAM, Koolen, DA, Kroisel, PM, Kronenberg, F, Labalme, A, Landais, E, Lapi, E, Layet, V, Legallic, S, Leheup, B, Leube, B, Lewis, S, Lucas, J, MacDermot, KD, Magnusson, P, Marshall, C, Mathieu-Dramard, M, McCarthy, MI, Meitinger, T, Mencarelli, MA, Merla, G, Moerman, A, Mooser, V, Morice-Picard, F, Mucciolo, M, Nauck, M, Ndiaye, NC, Nordgren, A, Pasquier, L, Petit, F, Pfundt, R, Plessis, G, Rajcan-Separovic, E, Ramelli, GP, Rauch, A, Ravazzolo, R, Reis, A, Renieri, A, Richart, C, Ried, JS, Rieubland, C, Roberts, W, Roetzer, KM, Rooryck, C, Rossi, M, Saemundsen, E, Satre, V, Schurmann, C, Sigurdsson, E, Stavropoulos, DJ, Stefansson, H, Tengstrom, C, Thorsteinsdottir, U, Tinahones, FJ, Touraine, R, Vallee, L, van Binsbergen, E, Van der Aa, N, Vincent-Delorme, C, Visvikis-Siest, S, Vollenweider, P, Volzke, H, Vulto-van Silfhout, AT, Waeber, G, Wallgren-Pettersson, C, Witwicki, RM, Zwolinksi, S, Andrieux, J, Estivill, X, Gusella, JF, Gustafsson, O, Metspalu, A, Scherer, SW, Stefansson, K, Blakemore, AIF, Beckmann, JS, Froguel, P

المصدر: Nature. 478(7367):97-U111

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:123351294

المؤلفون: Myers, RM, Stamatoyannopoulos, J, Snyder, M, Dunham, I, Hardison, RC, Bernstein, BE, Gingeras, TR, Kent, WJ, Birney, E, Wold, B, Crawford, GE, Epstein, CB, Shoresh, N, Ernst, J, Mikkelsen, TS, Kheradpour, P, Zhang, XL, Wang, L, Issner, R, Coyne, MJ, Durham, T, Ku, MC, Truong, T, Ward, LD, Altshuler, RC, Lin, MF, Kellis, M, Davis, CA, Kapranov, P, Dobin, A, Zaleski, C, Schlesinger, F, Batut, P, Chakrabortty, S, Jha, S, Lin, W, Drenkow, J, Wang, HE, Bell, K, Gao, H, Bell, I, Dumais, E, Dumais, J, Antonarakis, SE, Ucla, C, Borel, C, Guigo, R, Djebali, S, Lagarde, J, Kingswood, C, Ribeca, P, Sammeth, M, Alioto, T, Merkel, A, Tilgner, H, Carninci, P, Hayashizaki, Y, Lassmann, T, Takahashi, H, Abdelhamid, RF, Hannon, G, Fejes-Toth, K, Preall, J, Gordon, A, Sotirova, V, Reymond, A, Howald, C, Graison, EAY, Chrast, J, Ruan, YJ, Ruan, XA, Shahab, A, Poh, WT, Wei, CL, Furey, TS, Boyle, AP, Sheffield, NC, Song, LY, Shibata, Y, Vales, T, Winter, D, Zhang, ZC, London, D, Wang, TY, Keefe, D, Iyer, VR, Lee, BK, McDaniell, RM, Liu, Z, Battenhouse, A, Bhinge, AA, Lieb, JD, Grasfeder, LL, Showers, KA, Giresi, PG, Kim, SKC, Shestak, C, Pauli, F, Reddy, TE, Gertz, J, Partridge, EC, Jain, P, Sprouse, RO, Bansal, A, Pusey, B, Muratet, MA, Varley, KE, Bowling, KM, Newberry, KM, Nesmith, AS, Dilocker, JA, Parker, SL, Waite, LL, Thibeault, K, Roberts, K, Absher, DM, Mortazavi, A, Williams, B, Marinov, G, Trout, D, Pepke, S, King, B, McCue, K, Kirilusha, A, DeSalvo, G, Fisher-Aylor, K, Amrhein, H, Vielmetter, J, Sherlock, G, Sidow, A, Batzoglou, S, Rauch, R, Kundaje, A, Libbrecht, M, Margulies, EH, Parker, SCJ, Elnitski, L, Green, ED, Hubbard, T, Harrow, J, Searle, S, Kokocinski, F, Aken, B, Frankish, A, Hunt, T, Despacio-Reyes, G, Kay, M, Mukherjee, G, Bignell, A, Saunders, G, Boychenko, V, Brent, M, Van Baren, MJ, Brown, RH, Gerstein, M, Khurana, E, Balasubramanian, S, Zhang, ZD, Lam, H, Cayting, P, Robilotto, R, Lu, Z, Derrien, T, Tanzer, A, Knowles, DG, Mariotti, M, Haussler, D, Harte, R, Diekhans, M, Lin, M, Valencia, A, Tress, M, Rodriguez, JM, Landt, SG, Raha, D, Shi, MY, Euskirchen, G, Grubert, F, Kasowski, M, Lian, J, Lacroute, P, Xu, YH, Monahan, H, Patacsil, D, Slifer, T, Yang, XQ, Charos, A, Reed, B, Wu, LF, Auerbach, RK, Habegger, L, Hariharan, M, Rozowsky, J, Abyzov, A, Weissman, SM, Struhl, K, Lamarre-Vincent, N, Lindahl-Allen, M, Miotto, B, Moqtaderi, Z, Fleming, JD, Newburger, P, Farnham, PJ, Frietze, S, O'Geen, H, Xu, XQ, Blahnik, KR, Cao, AR, Iyengar, S, Stamatoyannopoulos, JA, Kaul, R, Thurman, RE, Wang, H, Navas, PA, Sandstrom, R, Sabo, PJ, Weaver, M, Canfield, T, Lee, K, Neph, S, Roach, V, Reynolds, A, Johnson, A, Rynes, E, Giste, E, Vong, S, Neri, J, Frum, T, Johnson, EM, Nguyen, ED, Ebersol, AK, Sanchez, ME, Sheffer, HH, Lotakis, D, Haugen, E, Humbert, R, Kutyavin, T, Shafer, T, Dekker, J, Lajoie, BR, Sanyal, A, Rosenbloom, KR, Dreszer, TR, Raney, BJ, Barber, GP, Meyer, LR, Sloan, CA, Malladi, VS, Cline, MS, Learned, K, Swing, VK, Zweig, AS, Rhead, B, Fujita, PA, Roskin, K, Karolchik, D, Kuhn, RM, Wilder, SP, Sobral, D, Herrero, J, Beal, K, Lukk, M, Brazma, A, Vaquerizas, JM, Luscombe, NM, Bickel, PJ, Boley, N, Brown, JB, Li, QH, Huang, HY, Sboner, A, Yip, KY, Cheng, C, Yan, KK, Bhardwaj, N, Wang, J, Lochovsky, L, Jee, J, Gibson, T, Leng, J, Du, J, Harris, RS, Song, G, Miller, W, Suh, B, Wang, T, Paten, B, Noble, WS, Hoffman, MM, Buske, OJ, Weng, ZP, Dong, XJ, Xi, HL, Tenenbaum, SA, Doyle, F, Penalva, LO, Chittur, S, Tullius, TD, White, KP, Karmakar, S, Victorsen, A, Jameel, N, Bild, N, Grossman, RL, Whitfield, TW, Collins, PJ, Trinklein, ND, Giddings, MC, Chen, X, Khatun, J, Maier, C, Yu, YB, Gunawardena, H, Risk, B, Feingold, EA, Lowdon, RF, Dillon, LAL, Good, PJ

المصدر: PLoS biology. 9(4):e1001046

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:122527331

المؤلفون: Giannuzzi, G., Schmidt, P. J., Porcu, E., Willemin, G., Munson, K. M., Nuttle, X., Earl, R., Chrast, J., Hoekzema, K., Risso, D., Mannik, K., De Nittis, P., Baratz, E. D., Attanasio, C., Martin, S., Jacquemont, S., Bottani, A., Gerard, M., Weber, S., Jacquette, A., Lesne, F., Isidor, B., Le Caignec, C., Nizon, M., Vincent-Delorme, C., Gilbert-Dussardier, B., Curro`, A., Renieri, A., Giachino, D., Brusco, A., Herault, Y., Gao, X., Philpott, C. C., Bernier, R. A., Kutalik, Z., Fleming, M. D., Eichler, E. E., Reymond, A.

المساهمون: Chercheur indépendant, Department of Genome Sciences [Seattle] (GS), University of Washington [Seattle], Weill Medical College of Cornell University [New York], University of Tartu, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA), Christian Albrechts University, Department of Psychiatry and Behavioral Sciences, Department of Medical Genetics, Université de Lausanne (UNIL), Center for Integrative Genomics - Institute of Bioinformatics, Génopode (CIG), Swiss Institute of Bioinformatics [Lausanne] (SIB), Université de Lausanne (UNIL)-Université de Lausanne (UNIL)

المصدر: Am J Hum Genet
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2019, 105 (5), pp.947-958. ⟨10.1016/j.ajhg.2019.09.023⟩

مصطلحات موضوعية: Male, 0301 basic medicine, [SDV]Life Sciences [q-bio], Chromosome Disorders, 0302 clinical medicine, Chromosome Duplication, Gene duplication, Homeostasis, ComputingMilieux_MISCELLANEOUS, Genetics (clinical), 2. Zero hunger, Genetics, iron deficiency anemia, medicine.diagnostic_test, Microcytosis, Anemia, Iron deficiency, 3. Good health, BOLA2, Phenotype, medicine.anatomical_structure, Serum iron, Female, Chromosome Deletion, Heterozygote, DNA Copy Number Variations, Genotype, 16p11.2 copy number variants, Iron, Biology, Article, 03 medical and health sciences, human evolution, gene duplication, human-specific segmental duplications, medicine, Animals, Humans, Autistic Disorder, [SDV.GEN]Life Sciences [q-bio]/Genetics, Proteins, medicine.disease, Red blood cell, 030104 developmental biology, Iron-deficiency anemia, Hemoglobin, Chromosomes, Human, Pair 16, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4278bbc6b11de493a02ddd8d3c54ba40
https://doi.org/10.1016/j.ajhg.2019.09.023

المؤلفون: Moore, JE, Abascal, F, Acosta, R, Addleman, NJ, Adrian, J, Afzal, V, Aken, B, Akiyama, JA, Jammal, OA, Amrhein, H, Anderson, SM, Edwards, MD, El-Ali, N, Elhajjajy, SI, Andrews, GR, Antoshechkin, I, Ardlie, KG, Armstrong, J, Astley, M, Banerjee, B, Barkal, AA, Barnes, IHA, Barozzi, I, Barrell, D, Barson, G, Bates, D, Baymuradov, UK, Bazile, C, Beer, MA, Beik, S, Bender, MA, Bennett, R, Bouvrette, LPB, Bernstein, BE, Berry, A, Bhaskar, A, Bignell, A, Blue, SM, Bodine, DM, Boix, C, Boley, N, Borrman, T, Borsari, B, Boyle, AP, Brandsmeier, LA, Breschi, A, Bresnick, EH, Brooks, JA, Buckley, M, Burge, CB, Byron, R, Cahill, E, Cai, L, Cao, L, Carty, M, Castanon, RG, Castillo, A, Chaib, H, Chan, ET, Chee, DR, Chee, S, Chen, H, Chen, JY, Chen, S, Cherry, JM, Chhetri, SB, Choudhary, JS, Chrast, J, Chung, D, Clarke, D, Cody, NAL, Coppola, CJ, Coursen, J, D’Ippolito, AM, Dalton, S, Danyko, C, Davidson, C, Davila-Velderrain, J, Davis, CA, Dekker, J, Deran, A, DeSalvo, G, Despacio-Reyes, G, Dewey, CN, Dickel, DE, Diegel, M, Diekhans, M, Dileep, V, Ding, B, Djebali, S, Dobin, A, Dominguez, D, Donaldson, S, Drenkow, J, Dreszer, TR, Drier, Y, Duff, MO, Dunn, D, Eastman, C, Ecker, JR

المساهمون: The ENCODE Project Consortium

المصدر: Nature. 605:E3-E3

مصطلحات موضوعية: Multidisciplinary, epigenomics, data integration, functional genomics

وصف الملف: Print-Electronic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9e320a8d924aa59ce7fdc8824698e8c
https://doi.org/10.1038/s41586-021-04226-3

المؤلفون: den Hoed, Joery, de Boer, Elke, Voisin, N, Dingemans, A, Guex, N, Wiel, L, Nellaker, C, Amudhavalli, S, Banka, S, Bena, F, Ben-Zeev, B, Bonagura, V, Bruel, A, Brunet, T, Brunner, H. G., Chew, H. B., Chrast, J., Cimbalistienė, Loreta, Coon, Hilary, study, The DDD, Délot, Emmanuèlle C, Démurger, Florence, Denommé-Pichon, Anne-Sophie, Depienne, C., Donnai, Dian, Dyment, David A, Elpeleg, Orly, Faivre, L, Gilissen, Christian, Granger, L., Haber, Benjamin, Hachiya, Yasuo, Abedi, Yasmin Hamzavi, Hanebeck, Jennifer, Hehir-Kwa, Jayne Y, Horist, Brooke, Itai, Toshiyuki, Jackson, Adam, Jewell, Rosalyn, Jones, Kelly L., Joss, Shelagh, Kashii, Hirofumi, Kato, Mitsuhiro, Kattentidt-Mouravieva, Anja A, Kok, Fernando, Kotzaeridou, Urania, Krishnamurthy, Vidya, Kučinskas, Vaidutis, Kuechler, Alma, Lavillaureix, Alinoë, Liu, Pengfei, Manwaring, Linda, Matsumoto, Naomichi, Mazel, Benoît, McWalter, Kirsty, Meiner, Vardiella, Mikati, Mohamad A., Miyatake, Satoko, Mizuguchi, Takeshi, Moey, Lip H., Mohammed, Shehla, Mor-Shaked, Hagar, Mountford, Hayley, Newbury-Ecob, Ruth, Odent, Sylvie, Orec, Laura, Osmond, Matthew, Palculict, Timothy Blake, Parker, Michael, Petersen, Andrea K., Pfundt, Rolph, Preikšaitienė, Eglė, Radtke, Kelly, Ranza, Emmanuelle, Rosenfeld, Jill A., Santiago-Sim, Teresa, Schwager, Caitlin, Sinnema, Margje, Blok, Lot Snijders, Spillmann, Rebecca C., Stegmann, Alexander P A, Thiffault, Isabelle, Tran, Linh, Vaknin-Dembinsky, Adi, Vedovato-dos-Santos, Juliana H., Schrier Vergano, Samantha A., Vilain, Eric, Vitobello, Antonio, Wagner, Matias, Waheeb, Androu, Willing, Marcia C., Zuccarelli, Britton D, Kini, Usha, Newbury, Dianne F., Kleefstra, Tjitske, Reymond, Alexandre, Fisher, Simon E., Vissers, Lisenka E L M

المصدر: den Hoed, J, de Boer, E, Voisin, N, Dingemans, A, Guex, N, Wiel, L, Nellaker, C, Amudhavalli, S, Banka, S, Bena, F, Ben-Zeev, B, Bonagura, V, Bruel, A, Brunet, T, Brunner, H G, Chew, H B, Chrast, J, Cimbalistienė, L, Coon, H, study, T DDD, Délot, E C, Démurger, F, Denommé-Pichon, A-S, Depienne, C, Donnai, D, Dyment, D A, Elpeleg, O, Faivre, L, Gilissen, C, Granger, L, Haber, B, Hachiya, Y, Abedi, Y H, Hanebeck, J, Hehir-Kwa, J Y, Horist, B, Itai, T, Jackson, A, Jewell, R, Jones, K L, Joss, S, Kashii, H, Kato, M, Kattentidt-Mouravieva, A A, Kok, F, Kotzaeridou, U, Krishnamurthy, V, Kučinskas, V, Kuechler, A, Lavillaureix, A, Liu, P, Manwaring, L, Matsumoto, N, Mazel, B, McWalter, K, Meiner, V, Mikati, M A, Miyatake, S, Mizuguchi, T, Moey, L H, Mohammed, S, Mor-Shaked, H, Mountford, H, Newbury-Ecob, R, Odent, S, Orec, L, Osmond, M, Palculict, T B, Parker, M, Petersen, A K, Pfundt, R, Preikšaitienė, E, Radtke, K, Ranza, E, Rosenfeld, J A, Santiago-Sim, T, Schwager, C, Sinnema, M, Blok, L S, Spillmann, R C, Stegmann, A P A, Thiffault, I, Tran, L, Vaknin-Dembinsky, A, Vedovato-dos-Santos, J H, Schrier Vergano, S A, Vilain, E, Vitobello, A, Wagner, M, Waheeb, A, Willing, M C, Zuccarelli, B D, Kini, U, Newbury, D F, Kleefstra, T, Reymond, A, Fisher, S E & Vissers, L E L M 2020 ' Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction ' bioRxiv, pp. 1-24 . https://doi.org/10.1101/2020.10.23.352278

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3818::6433631d822315c4351bc5bddd3e6846
http://europepmc.org/abstract/PPR/PPR229744

المؤلفون: den Hoed, J., De Boer, E., Voisin, N., Guex, N., Blok, L. Snijders, Chrast, J., Manwaring, L., Willing, M., Waheeb, A., Osmond, M., McWalter, K., Vitobello, A., Demurger, F., Lavillaureix, A., Odent, S., Mazel, B., Faivre, L., Thiffault, I., Schwager, C., Amudhavalli, S. M., Rosenfeld, J. A., Radtke, K., Preiksaitiene, E., Ranza, E., Depienne, C., Kuechler, A., Mohammed, S., Abedi, Y. Hamzavi, Bonagura, V. R., Zuccarelli, B., Horist, B., Krishnamurthy, V., Kattentidt-Mouravieva, A. A., Granger, L., Petersen, A., Jones, K. L., Sinnema, M., Stegmann, A. P. A., Newbury-Ecob, R., Kini, U., Newbury, D. F., Gilissen, C., Brunner, H., Kleefstra, T., Reymond, A., Vissers, L. E. L. M., Fisher, S. E.

المساهمون: Donders Institute for Brain, Cognition and Behaviour, Radboud university [Nijmegen], Université de Lausanne (UNIL), Washington University in Saint Louis (WUSTL), GeneDx [Gaithersburg, MD, USA], Université Bourgogne Franche-Comté [COMUE] (UBFC), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Groupe Hospitalier Bretagne Sud (GHBS), Institut de Génétique et Développement de Rennes (IGDR), Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), Ambry Genetics [Aliso Viejo, CA, USA], University of Kansas [Lawrence] (KU), Maastricht University [Maastricht], Radboud University [Nijmegen], Université de Lausanne = University of Lausanne (UNIL), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )

المصدر: European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2020, 28 (SUPPL 1), pp.32-33
European Journal of Human Genetics, 2020, 28 (SUPPL 1), pp.32-33

مصطلحات موضوعية: [SDV]Life Sciences [q-bio], ComputingMilieux_MISCELLANEOUS

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::67c2ce3fabc43ad59477a311ce1a69d5
https://hal.archives-ouvertes.fr/hal-03131485