-
1Academic Journal
المؤلفون: Cooper, G. M., Bayram, J. M., Clement, N. D.
المصدر: Scientific Reports ; volume 14, issue 1 ; ISSN 2045-2322
-
2Academic Journal
المؤلفون: Nicolas A., Kenna K. P., Renton A. E., Ticozzi N., Faghri F., Chia R., Dominov J. A., Kenna B. J., Nalls M. A., Keagle P., Rivera A. M., van Rheenen W., Murphy N. A., van Vugt J. J. F. A., Geiger J. T., Van der Spek R. A., Pliner H. A., Shankaracharya, Smith B. N., Marangi G., Topp S. D., Abramzon Y., Gkazi A. S., Eicher J. D., Kenna A., Logullo F. O., Simone I. L., Logroscino G., Salvi F., Bartolomei I., Borghero G., Murru M. R., Costantino E., Pani C., Puddu R., Caredda C., Piras V., Tranquilli S., Cuccu S., Corongiu D., Melis M., Milia A., Marrosu F., Marrosu M. G., Floris G., Cannas A., Capasso M., Caponnetto C., Mancardi G., Origone P., Mandich P., Conforti F. L., Cavallaro S., Mora G., Marinou K., Sideri R., Penco S., Mosca L., Lunetta C., Pinter G. L., Corbo M., Riva N., Carrera P., Volanti P., Mandrioli J., Fini N., Fasano A., Tremolizzo L., Arosio A., Ferrarese C., Trojsi F., Tedeschi G., Monsurro M. R., Piccirillo G., Femiano C., Ticca A., Ortu E., La Bella V., Spataro R., Colletti T., Sabatelli M., Zollino M., Conte A., Luigetti M., Lattante S., Santarelli M., Petrucci A., Pugliatti M., Pirisi A., Parish L. D., Occhineri P., Giannini F., Battistini S., Ricci C., Benigni M., Cau T. B., Loi D., Calvo A., Moglia C., Brunetti M., Barberis M., Restagno G., Casale F., Marrali G., Fuda G., Ossola I., Cammarosano S., Canosa A., Ilardi A., Manera U., Grassano M., Tanel R., Pisano F., Mazzini L., Messina S., D'Alfonso S., Corrado L., Ferrucci L., Harms M. B., Goldstein D. B., Shneider N. A., Goutman S. A., Simmons Z., Miller T. M., Chandran S., Pal S., Manousakis G., Appel S. H., Simpson E., Wang L., Baloh R. H., Gibson S. B., Bedlack R., Lacomis D., Sareen D., Sherman A., Bruijn L., Penny M., Moreno C. D. A. M., Kamalakaran S., Allen A. S., Boone B. E., Brown R. H., Carulli J. P., Chesi A., Chung W. K., Cirulli E. T., Cooper G. M., Couthouis J., Day-Williams A. G., Dion P. A., Gitler A. D., Glass J. D., Han Y., Harris T., Hayes S. D., Jones A. L., Keebler J., Krueger B. J., Lasseigne B. N., Levy S. E., Lu Y. -F., Maniatis T., McKenna-Yasek D., Myers R. M., Petrovski S., Pulst S. M., Raphael A. R., Ravits J. M., Ren Z., Rouleau G. A., Sapp P. C., Sims K. B., Staropoli J. F., Waite L. L., Wang Q., Wimbish J. R., Xin W. W., Phatnani H., Kwan J., Broach J., Arcila-Londono X., Lee E. B., Van Deerlin V. M., Fraenkel E., Ostrow L. W., Baas F., Zaitlen N., Berry J. D., Malaspina A., Fratta P., Cox G. A., Thompson L. M., Finkbeiner S., Dardiotis E., Hornstein E., MacGowan D. J. L., Heiman-Patterson T., Hammell M. G., Patsopoulos N. A., Dubnau J., Nath A., Musunuri R. L., Evani U. S., Abhyankar A., Zody M. C., Kaye J., Wyman S. K., LeNail A., Lima L., Rothstein J. D., Svendsen C. N., Van Eyk J. E., Maragakis N. J., Kolb S. J., Cudkowicz M., Baxi E., Benatar M., Taylor J. P., Wu G., Rampersaud E., Wuu J., Rademakers R., Zuchner S., Schule R., McCauley J., Hussain S., Cooley A., Wallace M., Clayman C., Barohn R., Statland J., Swenson A., Jackson C., Trivedi J., Khan S., Katz J., Jenkins L., Burns T., Gwathmey K., Caress J., McMillan C., Elman L., Pioro E. P., Heckmann J., So Y., Walk D., Maiser S., Zhang J., Silani V., Gellera C., Ratti A., Taroni F., Lauria G., Verde F., Fogh I., Tiloca C., Comi G. P., Soraru G., Cereda C., De Marchi F., Corti S., Ceroni M., Siciliano G., Filosto M., Inghilleri M., Peverelli S., Colombrita C., Poletti B., Maderna L., Del Bo R., Gagliardi S., Querin G., Bertolin C., Pensato V., Castellotti B., Camu W., Mouzat K., Lumbroso S., Corcia P., Meininger V., Besson G., Lagrange E., Clavelou P., Guy N., Couratier P., Vourch P., Danel V., Bernard E., Lemasson G., Laaksovirta H., Myllykangas L., Jansson L., Valori M., Ealing J., Hamdalla H., Rollinson S., Pickering-Brown S., Orrell R. W., Sidle K. C., Hardy J., Singleton A. B., Johnson J. O., Arepalli S., Polak M., Asress S., Al-Sarraj S., King A., Troakes C., Vance C., de Belleroche J., ten Asbroek A. L. M. A., Munoz-Blanco J. L., Hernandez D. G., Ding J., Gibbs J. R., Scholz S. W., Floeter M. K., Campbell R. H., Landi F., Bowser R., Kirby J., Pamphlett R., Gerhard G., Dunckley T. L., Brady C. B., Kowall N. W., Troncoso J. C., Le Ber I., Heiman-Patterson T. D., Kamel F., Van Den Bosch L., Strom T. M., Meitinger T., Shatunov A., Van Eijk K. R., de Carvalho M., Kooyman M., Middelkoop B., Moisse M., McLaughlin R. L., Van Es M. A., Weber M., Boylan K. B., Van Blitterswijk M., Morrison K. E., Basak A. N., Mora J. S., Drory V. E., Shaw P. J., Turner M. R., Talbot K., Hardiman O., Williams K. L., Fifita J. A., Nicholson G. A., Blair I. P., Esteban-Perez J., Garcia-Redondo A., Al-Chalabi A., Al Kheifat A., Andersen P. M., Chio A., Cooper-Knock J., Dekker A., Redondo A. G., Gotkine M., Hide W., Iacoangeli A., Kiernan M., Landers J. E., Mill J., Neto M. M., Pardina J. M., Newhouse S., Pinto S., Pulit S., Robberecht W., Shaw C., Sproviero W., Tazelaar G., Van Damme P., van den Berg L. H., van Vugt J., Veldink J. H., Zatz M., Bauer D. C., Twine N. A., Rogaeva E., Zinman L., Brice A., Feldman E. L., Ludolph A. C., Weishaupt J. H., Trojanowski J. Q., Stone D. J., Tienari P., Shaw C. E., Traynor B. J.
المساهمون: Nicolas, A., Kenna, K. P., Renton, A. E., Ticozzi, N., Faghri, F., Chia, R., Dominov, J. A., Kenna, B. J., Nalls, M. A., Keagle, P., Rivera, A. M., van Rheenen, W., Murphy, N. A., van Vugt, J. J. F. A., Geiger, J. T., Van der Spek, R. A., Pliner, H. A., Shankaracharya, Smith, B. N., Marangi, G., Topp, S. D., Abramzon, Y., Gkazi, A. S., Eicher, J. D., Kenna, A., Logullo, F. O., Simone, I. L., Logroscino, G., Salvi, F., Bartolomei, I., Borghero, G., Murru, M. R., Costantino, E., Pani, C., Puddu, R., Caredda, C., Piras, V., Tranquilli, S., Cuccu, S., Corongiu, D., Melis, M., Milia, A., Marrosu, F., Marrosu, M. G., Floris, G., Cannas, A., Capasso, M., Caponnetto, C., Mancardi, G., Origone, P., Mandich, P., Conforti, F. L., Cavallaro, S., Mora, G., Marinou, K., Sideri, R., Penco, S., Mosca, L., Lunetta, C., Pinter, G. L., Corbo, M., Riva, N., Carrera, P., Volanti, P., Mandrioli, J., Fini, N., Fasano, A., Tremolizzo, L., Arosio, A., Ferrarese, C., Trojsi, F., Tedeschi, G., Monsurro, M. R., Piccirillo, G., Femiano, C., Ticca, A., Ortu, E., La Bella, V., Spataro, R., Colletti, T., Sabatelli, M., Zollino, M., Conte, A., Luigetti, M., Lattante, S., Santarelli, M., Petrucci, A., Pugliatti, M., Pirisi, A., Parish, L. D., Occhineri, P., Giannini, F., Battistini, S., Ricci, C., Benigni, M., Cau, T. B., Loi, D., Calvo, A., Moglia, C., Brunetti, M.
وصف الملف: ELETTRONICO
Relation: info:eu-repo/semantics/altIdentifier/pmid/29566793; info:eu-repo/semantics/altIdentifier/wos/WOS:000428235400013; volume:97 (6); firstpage:1268; lastpage:1283.e6; numberofpages:22; journal:NEURON; info:eu-repo/grantAgreement/EC/FP7/259867; http://hdl.handle.net/11567/963861; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85044172835
-
3Academic Journal
المؤلفون: Toepffer, E. M., Ojeda, N. Meave, Bakhtiari, S., Efthymiou, S., Horvath, R., Lochmüller, H., Zaki, M. S., Azam, M., Ben-Omran, T., Karagoz, I., Kaiyrzhanov, R., Guliyeva, U., Gulieva, S., Salayev, K., Hiz, S., Hiatt, S. M., Kunstmann, E., Miryounesi, M., Hashemi-Gorji, F., Cooper, G. M.
المصدر: Neuropediatrics; 2023 Supplement 1, Vol. 54, pS1-S32, 32p
مصطلحات موضوعية: MOVEMENT disorders, GENETIC counseling, SKELETAL abnormalities, PATIENTS' families, DIAGNOSTIC imaging, ATAXIA
-
4Academic Journal
المؤلفون: Blanchet, P., Bebin, M., Bruet, S., Cooper, G. M., Thompson, M. L., Duban-Bedu, B., Gerard, B., Piton, A., Suckno, S., Deshpande, C., Clowes, V., Vogt, J., Turnpenny, Peter, Williamson, M. P., Alembik, Y., Glasgow, E., McNeill, A.
مصطلحات موضوعية: Wessex Classification Subject Headings::Oncology. Pathology.::Genetics, Adult, Animals, CRISPR-Cas Systems, Cell Line, Child, Chromosome Deletion, Chromosomes, Human, Pair 2, Female, Gene Expression Regulation, Gene Knockout Techniques, Humans, Hypothalamus, Intellectual Disability, Male, Mutation, Nerve Tissue Proteins, Obesity, Polymorphism, Single Nucleotide, Transcription Factors, Zebrafish
وصف الملف: application/pdf
Relation: http://dx.plos.org/10.1371/journal.pgen.1006957; MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus. 2017, 13 (8):e1006957 PLoS Genet.; http://hdl.handle.net/11287/620470; PLoS genetics
-
5Academic Journal
المؤلفون: Voisin N., Schnur R. E., Douzgou S., Hiatt S. M., Rustad C. F., Brown N. J., Earl D. L., Keren B., Levchenko O., Geuer S., Verheyen S., Johnson D., Zarate Y. A., Hancarova M., Amor D. J., Bebin E. M., Blatterer J., Brusco A., Cappuccio G., Charrow J., Chatron N., Cooper G. M., Courtin T., Dadali E., Delafontaine J., Del Giudice E., Doco M., Douglas G., Eisenkolbl A., Funari T., Giannuzzi G., Gruber-Sedlmayr U., Guex N., Heron D., Holla O. L., Hurst A. C. E., Juusola J., Kronn D., Lavrov A., Lee C., Lorrain S., Merckoll E., Mikhaleva A., Norman J., Pradervand S., Prchalova D., Rhodes L., Sanders V. R., Sedlacek Z., Seebacher H. A., Sellars E. A., Sirchia F., Takenouchi T., Tanaka A. J., Taska-Tench H., Tonne E., Tveten K., Vitiello G., Vlckova M., Uehara T., Nava C., Yalcin B., Kosaki K., Donnai D., Mundlos S., Brunetti-Pierri N., Chung W. K., Reymond A.
المساهمون: Voisin, N., Schnur, R. E., Douzgou, S., Hiatt, S. M., Rustad, C. F., Brown, N. J., Earl, D. L., Keren, B., Levchenko, O., Geuer, S., Verheyen, S., Johnson, D., Zarate, Y. A., Hancarova, M., Amor, D. J., Bebin, E. M., Blatterer, J., Brusco, A., Cappuccio, G., Charrow, J., Chatron, N., Cooper, G. M., Courtin, T., Dadali, E., Delafontaine, J., Del Giudice, E., Doco, M., Douglas, G., Eisenkolbl, A., Funari, T., Giannuzzi, G., Gruber-Sedlmayr, U., Guex, N., Heron, D., Holla, O. L., Hurst, A. C. E., Juusola, J., Kronn, D., Lavrov, A., Lee, C., Lorrain, S., Merckoll, E., Mikhaleva, A., Norman, J., Pradervand, S., Prchalova, D., Rhodes, L., Sanders, V. R., Sedlacek, Z., Seebacher, H. A., Sellars, E. A., Sirchia, F., Takenouchi, T., Tanaka, A. J., Taska-Tench, H., Tonne, E., Tveten, K., Vitiello, G., Vlckova, M., Uehara, T., Nava, C., Yalcin, B., Kosaki, K., Donnai, D., Mundlos, S., Brunetti-Pierri, N., Chung, W. K., Reymond, A.
مصطلحات موضوعية: AFF3, AFF4, horseshoe kidney, intellectual disability, mesomelic dysplasia, Adolescent, Amino Acid Sequence, Animal, Brain Disease, Child, Preschool, Epilepsy, Evolution, Molecular, Female, Fused Kidney, Gene Frequency, Human, Infant, Male, Mice, Models, Nuclear Protein, Osteochondrodysplasia, Phenotype, Protein Stability, Syndrome, Transcriptional Elongation Factor, Young Adult, Zebrafish
Relation: info:eu-repo/semantics/altIdentifier/pmid/33961779; info:eu-repo/semantics/altIdentifier/wos/WOS:000658896700007; volume:108; issue:5; firstpage:857; lastpage:873; numberofpages:17; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11571/1451931; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85105081668
-
6Academic Journal
المؤلفون: Cooper, G. M., Bullen, J.
المصدر: BMJ: British Medical Journal, 2001 Nov . 323(7323), 1256-1256.
URL الوصول: https://www.jstor.org/stable/25468404
-
7Academic Journal
المؤلفون: Feig, L. A., Bast, R. C., Knapp, R. C., Cóoper, G. M.
المصدر: Science, 1984 Feb . 223(4637), 698-701.
URL الوصول: https://www.jstor.org/stable/1692169
-
8Academic Journal
المؤلفون: Carney, W. P., Petit, D., Hamer, P., Der, C. J., Finkel, T., Cooper, G. M., Lefebvre, M., Mobtaker, H., Delellis, R., Tischler, A. S., Dayal, Y., Wolfe, H., Rabin, H.
المصدر: Proceedings of the National Academy of Sciences of the United States of America, 1986 Oct 01. 83(19), 7485-7489.
URL الوصول: https://www.jstor.org/stable/28498
-
9Academic Journal
المؤلفون: MacArthur, D G, Manolio, T A, Dimmock, D P, Rehm, H L, Shendure, J, Abecasis, G R, Adams, D R, Altman, R B, Antonarakis, Stylianos, Ashley, E A, Barrett, J C, Biesecker, L G, Conrad, D F, Cooper, G M, Cox, N J, Daly, M J, Gerstein, M B, Goldstein, D B, Hirschhorn, J N, Leal, S M, Pennacchio, L A, Stamatoyannopoulos, J A, Sunyaev, S R, Valle, D, Voight, B F, Winckler, W, Gunter, C
المصدر: ISSN: 0028-0836 ; Nature, vol. 508, no. 7497 (2014) p. 469-476.
مصطلحات موضوعية: info:eu-repo/classification/ddc/576.5, Disease, False Positive Reactions, Genes/genetics, Genetic Predisposition to Disease/genetics, Genetic Variation/genetics, Guidelines as Topic, Humans, Information Dissemination, Publishing, Reproducibility of Results, Research Design, Translational Medical Research/standards
Relation: info:eu-repo/semantics/altIdentifier/pmid/24759409; https://archive-ouverte.unige.ch/unige:42274; unige:42274
-
10Academic Journal
المؤلفون: MacArthur, D. G., Manolio, T. A., Dimmock, D. P., Rehm, H. L., Shendure, J., Abecasis, G. R., Adams, D. R., Altman, R. B., Antonarakis, S. E., Ashley, E. A., Barrett, J. C., Biesecker, L. G., Conrad, D. F., Cooper, G. M., Cox, N. J., Daly, M. J., Gerstein, M. B., Goldstein, D. B., Hirschhorn, J. N., Leal, S. M., Pennacchio, L. A., Stamatoyannopoulos, J. A., Sunyaev, S. R., Valle, D., Voight, B. F., Winckler, W., Gunter, C.
المصدر: Nature ; volume 508, issue 7497, page 469-476 ; ISSN 0028-0836 1476-4687
-
11Academic Journal
المؤلفون: Martin, S J, Currie, M J, Deeks, L S, Cooper, G M, Parker, R M, Del Rosario, R, Hocking, J S, Bowden, F J
مصطلحات موضوعية: Poster presentation
وصف الملف: text/html
Relation: http://sti.bmj.com/cgi/content/short/88/Suppl_1/A35-b; http://dx.doi.org/10.1136/sextrans-2012-050601c.75
-
12Academic Journal
المؤلفون: Nayak, G, Cooper, G M
المصدر: Cell Death & Disease ; volume 3, issue 10, page e400-e400 ; ISSN 2041-4889
-
13Academic Journal
المؤلفون: McClure, J. H., Cooper, G. M., Clutton-Brock, T. H., on behalf of the Centre for Maternal and Child Enquiries
مصطلحات موضوعية: Review Articles
وصف الملف: text/html
Relation: http://bja.oxfordjournals.org/cgi/content/short/107/2/127; http://dx.doi.org/10.1093/bja/aer192
-
14Academic Journal
المؤلفون: Hannes, F D, Sharp, A J, Mefford, H C, de Ravel, T, Ruivenkamp, C A, Breuning, M H, Fryns, J-P, Devriendt, K, Van Buggenhout, G, Vogels, A, Stewart, H, Hennekam, R C, Cooper, G M, Regan, R, Knight, S J L, Eichler, E E, Vermeesch, J R
مصطلحات موضوعية: Original articles
وصف الملف: text/html
-
15Academic Journal
المؤلفون: Wilson, M. J. A., MacArthur, C., Cooper, G. M., Bick, D., Moore, P. A. S., Shennan, A.
المصدر: Anaesthesia ; volume 65, issue 2, page 145-153 ; ISSN 0003-2409 1365-2044
-
16Academic Journal
المؤلفون: Cooper, G. M., McClure, J. H.
مصطلحات موضوعية: Special Article
وصف الملف: text/html
-
17Academic Journal
المؤلفون: Carmody, K. A., Mooney, M. P., Cooper, G. M., Bonar, C. J., Siegel, M. I., Dumont, E. R., Smith, T. D.
المصدر: The Cleft Palate Craniofacial Journal ; volume 45, issue 1, page 93-100 ; ISSN 1055-6656 1545-1569
-
18Academic Journal
المؤلفون: Bell S., Rousseau J., Peng H., Aouabed Z., Priam P., Theroux J. -F., Jefri M., Tanti A., Wu H., Kolobova I., Silviera H., Manzano-Vargas K., Ehresmann S., Hamdan F. F., Hettige N., Zhang X., Antonyan L., Nassif C., Ghaloul-Gonzalez L., Sebastian J., Vockley J., Begtrup A. G., Wentzensen I. M., Crunk A., Nicholls R. D., Herman K. C., Deignan J. L., Al-Hertani W., Efthymiou S., Salpietro V., Miyake N., Makita Y., Matsumoto N., Ostern R., Houge G., Hafstrom M., Fassi E., Houlden H., Klein Wassink-Ruiter J. S., Nelson D., Goldstein A., Dabir T., van Gils J., Bourgeron T., Delorme R., Cooper G. M., Martinez J. E., Finnila C. R., Carmant L., Lortie A., Oegema R., van Gassen K., Mehta S. G., Huhle D., Abou Jamra R., Martin S., Brunner H. G., Lindhout D., Au M., Graham J. M., Coubes C., Turecki G., Gravel S., Mechawar N., Rossignol E., Michaud J. L., Lessard J., Ernst C., Campeau P. M.
المساهمون: Bell, S., Rousseau, J., Peng, H., Aouabed, Z., Priam, P., Theroux, J. -F., Jefri, M., Tanti, A., Wu, H., Kolobova, I., Silviera, H., Manzano-Vargas, K., Ehresmann, S., Hamdan, F. F., Hettige, N., Zhang, X., Antonyan, L., Nassif, C., Ghaloul-Gonzalez, L., Sebastian, J., Vockley, J., Begtrup, A. G., Wentzensen, I. M., Crunk, A., Nicholls, R. D., Herman, K. C., Deignan, J. L., Al-Hertani, W., Efthymiou, S., Salpietro, V., Miyake, N., Makita, Y., Matsumoto, N., Ostern, R., Houge, G., Hafstrom, M., Fassi, E., Houlden, H., Klein Wassink-Ruiter, J. S., Nelson, D., Goldstein, A., Dabir, T., van Gils, J., Bourgeron, T., Delorme, R., Cooper, G. M., Martinez, J. E., Finnila, C. R., Carmant, L., Lortie, A., Oegema, R., van Gassen, K., Mehta, S. G., Huhle, D., Abou Jamra, R., Martin, S., Brunner, H. G., Lindhout, D., Au, M., Graham, J. M., Coubes, C., Turecki, G., Gravel, S., Mechawar, N., Rossignol, E., Michaud, J. L., Lessard, J., Ernst, C., Campeau, P. M.
مصطلحات موضوعية: ACTL6B, genetic engineering, intellectual disability, neurodevelopment, seizure, stem cells
وصف الملف: STAMPA
Relation: info:eu-repo/semantics/altIdentifier/pmid/31031012; info:eu-repo/semantics/altIdentifier/wos/WOS:000466608700004; volume:104 (5); firstpage:815; lastpage:834; numberofpages:20; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11567/969530; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85064931418
-
19Conference
المؤلفون: Le Duc, D., Giulivi, C., Hiatt, S. M., Napoli, E., Panoutsopoulos, A., De Crescenzo, A., Kotzaeridou, U., Syrbe, S., Anagnostou, E., Azage, M., Bend, R., Begtrup, A., Brown, N. J., Buettner, B., Cho, M. T., Cooper, G. M., Doering, J. H., Dubourg, C., Everman, D. B., Hildebrand, M. S., Santos, F. J. Reynoso, Kellam, B., Keller-Ramey, J., Lemke, J. R., Liu, S., Niyazov, D., Payne, K., Person, R., Quelin, C., Schnur, R. E., Smith, B. T.
-
20Academic Journal
المؤلفون: Cooper, G. M.
مصطلحات موضوعية: Editorials
وصف الملف: text/html