المؤلفون: Rots, D., Jakub, T. E., Keung, C., Jackson, A., Banka, S., Pfundt, R., De Vries, B. B. A., Van Jaarsveld, R. H., Hopman, S. M. J., Van Binsbergen, E., Valenzuela, I., Hempel, M., Bierhals, T., Kortüm, F., Lecoquierre, Francois, Goldenberg, Alice, Hertz, J. M., Andersen, C. B., Kibæk, M., Prijoles, E. J., Stevenson, R. E., Everman, D. B., Patterson, W. G., Meng, L., Gijavanekar, C., De Dios, K., Lakhani, S., Levy, T., Wagner, M., Wieczorek, D., Benke, P. J., Lopez Garcia, M. S., Perrier, R., Sousa, S. B., Almeida, P. M., Simões, M. J., Isidor, Bertrand, Deb, Wallid, Schmanski, A. A., Abdul-Rahman, O., Philippe, Christophe, Bruel, A. L., Faivre, L., Vitobello, A., Thauvin, Christel, Smits, J. J., Garavelli, L., Caraffi, S. G., Peluso, F., Davis-Keppen, L., Platt, D., Royer, E., Leeuwen, L., Sinnema, M., Stegmann, A. P. A., Stumpel, C. T. R. M., Tiller, G. E., Bosch, D. G. M., Potgieter, S. T., Joss, S., Splitt, M., Holden, S., Prapa, M., Foulds, N., Douzgou, S., Puura, K., Waltes, R., Chiocchetti, A. G., Freitag, C. M., Satterstrom, F. K., De Rubeis, S., Buxbaum, J., Gelb, B. D., Branko, A., Kushima, I., Howe, J., Scherer, S. W., Arado, A., Baldo, C., Patat, O., Bénédicte, Demeer, Lopergolo, D., Santorelli, F. M., Haack, T. B., Dufke, A., Bertrand, M., Falb, R. J., Rieß, A., Krieg, P., Spranger, S., Bedeschi, M. F., Iascone, M., Josephi-Taylor, S., Roscioli, T., Buckley, M. F., Liebelt, J., Dagli, A. I., Aten, E., Hurst, A. C. E., Hicks, A., Suri, M., Aliu, E., Naik, S., Sidlow, R., Coursimault, Juliette, Nicolas, G., Küpper, H., Petit, Florence, Ibrahim, V., Top, D., Di Cara, F., Louie, R. J., Stolerman, E., Brunner, H. G., Vissers, L. E. L. M., Kramer, J. M., Kleefstra, T.

المساهمون: Université de Lille, CHU Lille, CHU Rouen, Université de Rouen Normandie UNIROUEN, Cancer and Brain Genomics CBG, Service de génétique médicale - Unité de génétique clinique Nantes, Institut du Thorax Nantes, Génétique des anomalies du développement (CTM UMR 1231) GAD, Unité fonctionnelle d' Innovation en Diagnostic Génomique des Maladies Rares (CHU Dijon) UF6254, Service Génétique Médicale CHU Toulouse, CHU Amiens-Picardie, Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364

وصف الملف: application/octet-stream

العلاقة: American Journal of Human Genetics; Am J Hum Genet; http://hdl.handle.net/20.500.12210/84123Test

الإتاحة: https://doi.org/20.500.12210/84123Test
https://hdl.handle.net/20.500.12210/84123Test

المؤلفون: Soranzo, N, Sanna, S, Wheeler, E, Gieger, C, Radke, D, Dupuis, J, Bouatia-Naji, N, Langenberg, C, Prokopenko, I, Stolerman, E, Sandhu, MS, Heeney, MM, Devaney, JM, Reilly, MP, Ricketts, SL, Stewart, AFR, Voight, BF, Willenborg, C, Wright, B, Altshuler, D, Arking, D, Balkau, B, Barnes, D, Boerwinkle, E, Bohm, B, Bonnefond, A, Bonnycastle, LL, Boomsma, DI, Boinstein, SR, Bottcher, Y, Bumpstead, S, Burnett-Miller, MS, Campbell, H, Cao, A, Chambers, J, Clark, R, Collins, FS, Coresh, J, de Geus, EJC, Dei, M, Deloukas, P, Doring, A, Egan, JM, Elosua, R, Ferrucci, L, Forouhi, N, Fox, CS, Franklin, C, Franzosi, MG, Gallina, S, Goe, A, Graessler, J, Grallert, H, Greinacher, A, Hadley, D, Hall, A, Hamsten, A, Hayward, C, Heath, S, Herder, C, Homuth, G, Hottenga, JJ, Hunter-Merrill, R, Illig, T, Jackson, AU, Jula, A, Kleber, M, Knouff, CW, Kong, A, Kooner, J, Kottgen, A, Kovacs, P, Krohn, K, Kuhne, B, Kuusisto, J, Laakso, M, Lathrop, M, Lecoeur, C, Li, M, Li, MY, Loos, RJF, Luan, JA, Lyssenko, V, Magi, R, Magnusson, PKE, Malarstig, A, Mangino, M, Martinez-Larrad, MT, Marz, W, McArdle, WL, McPherson, R, Meisinger, C, Meitinger, T, Melander, O, Mohlke, KL, Mooser, VE, Morken, MA, Narisu, N, Nathan, DM, Nauck, M, O'Donne, C, Oexle, K, Olla, N, Pankow, JS, Payne, F, Peden, JF, Pedersen, NL, Peltonen, L, Perola, M, Polasek, O, Porcu, E, Rader, DJ, Rathmann, W, Ripatti, S, Rocheleau, G, Roden, M, Rudan, I, Salomaa, V, Saxena, R, Schlessinger, D, Schunkert, H, Schwarz, P, Seedorf, U, Selvin, E, Serrano-Rios, M, Shrader, P, Silveira, A, Siscovick, D, Song, K, Spector, TD, Stefansson, K, Steinthorsdottir, V, Strachan, DP, Strawbridge, R, Stumvoll, M, Surakka, I, Swift, AJ, Tanaka, T, Teumer, A, Thorleifsson, G, Thorsteinsdottir, U, Tonjes, A, Usalai, G, Vitart, V, Volzke, H, Wallaschofski, H, Waterworth, DM, Watkins, H, Wichmann, HE, Wild, SH, Willemsen, G, Williams, GH, Wilson, JF, Winkelmann, J, Wright, AF, Zabena, C, Zhao, JH, Epstein, SE, Erdmann, J, Hakonarson, HH, Kathiresan, S, Khaw, KT, Roberts, R, Samani, NJ, Fleming, MD, Sladek, R, Abecasis, G, Boehnke, M, Froguel, P, Groop, L, McCarthy, MI, Kao, WHL, Florez, JC, Uda, M, Wareham, NJ, Barroso, I, Meigs, JB

المصدر: Diabetes. 59(12):3229-3239

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:121818660Test

المؤلفون: Rots, D., Jakub, T.E., Keung, C., Jackson, A., Banka, S., Pfundt, R.P., Vries, B.B.A. de, Jaarsveld, R.H. van, Hopman, S.M.J., Binsbergen, E. van, Valenzuela, I., Hempel, M., Bierhals, T., Kortüm, F., Lecoquierre, F., Goldenberg, A., Hertz, J.M., Andersen, C.B., Kibæk, M., Prijoles, E.J., Stevenson, R.E., Everman, D.B., Patterson, W.G., Meng, L., Gijavanekar, C., Dios, K. De, Lakhani, S., Levy, T., Wagner, M., Wieczorek, D., Benke, P.J., Lopez Garcia, M.S., Perrier, R., Sousa, S.B., Almeida, P.M., Simões, M.J., Isidor, B., Deb, W., Schmanski, A.A., Abdul-Rahman, O., Philippe, C., Bruel, A.L., Faivre, L., Vitobello, A., Thauvin, C., Smits, J.J., Garavelli, L., Caraffi, S.G., Peluso, F., Davis-Keppen, L., Platt, D., Royer, E., Leeuwen, L van, Sinnema, M., Stegmann, A.P.A., Stumpel, C.T., Tiller, G.E., Bosch, D.G.M., Potgieter, S.T., Joss, S., Splitt, M., Holden, S., Prapa, M., Foulds, N., Douzgou, S., Puura, K., Waltes, R., Chiocchetti, A.G., Freitag, C.M., Satterstrom, F.K., Rubeis, S. de, Buxbaum, J., Gelb, B.D., Branko, A., Kushima, I., Howe, J., Scherer, S.W., Arado, A., Baldo, C., Patat, O., Bénédicte, D., Lopergolo, D., Santorelli, F.M., Haack, T.B., Dufke, A., Bertrand, M., Falb, R.J., Rieß, A., Krieg, P., Spranger, S., Bedeschi, M.F., Iascone, M., Josephi-Taylor, S., Roscioli, T., Buckley, M.F., Liebelt, J., Dagli, A.I., Aten, E., Hurst, A.C.E., Hicks, A., Suri, M., Aliu, E., Naik, S., Sidlow, R., Coursimault, J., Nicolas, G., Küpper, H., Petit, F., Ibrahim, V., Top, D., Cara, F. Di, Louie, R.J., Stolerman, E., Brunner, H.G., Vissers, L.E.L.M., Kramer, J.M., Kleefstra, T.

المصدر: American Journal of Human Genetics, 110, 6, pp. 963-978

مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience

العلاقة: https://repository.ubn.ru.nl/handle/2066/293631Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2023.04.008Test
https://repository.ubn.ru.nl/handle/2066/293631Test

المؤلفون: Hiatt, S.M., Trajkova, S., Sebastiano, M.R., Partridge, E.C., Abidi, F.E., Anderson, A., Ansar, M., Antonarakis, S.E., Azadi, A., Bachmann-Gagescu, R., Bartuli, A., Benech, C., Berkowitz, J.L., Betti, M.J., Brusco, A., Cannon, A., Caron, G., Chen, Y., Cochran, M.E., Coleman, T.F., Crenshaw, M.M., Cuisset, L., Curry, C.J., Darvish, H., Demirdas, S., Descartes, M., Douglas, J., Dyment, D.A., Elloumi, H.Z., Ermondi, G., Faoucher, M., Farrow, E.G., Felker, S.A., Fisher, H., Hurst, ACE, Joset, P., Kelly, M.A., Kmoch, S., Leadem, B.R., Lyons, M.J., Macchiaiolo, M., Magner, M., Mandrile, G., Mattioli, F., McEown, M., Meadows, S.K., Medne, L., Meeks, NJL, Montgomery, S., Napier, M.P., Natowicz, M., Newberry, K.M., Niceta, M., Noskova, L., Nowak, C.B., Noyes, A.G., Osmond, M., Prijoles, E.J., Pugh, J., Pullano, V., Quélin, C., Rahimi-Aliabadi, S., Rauch, A., Redon, S., Reymond, A., Schwager, C.R., Sellars, E.A., Scheuerle, A.E., Shukarova-Angelovska, E., Skraban, C., Stolerman, E., Sullivan, B.R., Tartaglia, M., Thiffault, I., Uguen, K., Umaña, L.A., van Bever, Y., van der Crabben, S.N., van Slegtenhorst, M.A., Waisfisz, Q., Washington, C., Rodan, L.H., Myers, R.M., Cooper, G.M.

المصدر: American journal of human genetics, vol. 110, no. 2, pp. 215-227

مصطلحات موضوعية: Humans, Male, Female, Neurodevelopmental Disorders/genetics, Intellectual Disability/genetics, Phenotype, Gene Expression Regulation, Face, Nervous System Malformations, Nuclear Proteins/genetics, Histone Demethylases/genetics, X-linked intellectual disability, ZMYM3, chromatin modifiers, neurodevelopmental disorder, transcriptional coregulators

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36586412; info:eu-repo/semantics/altIdentifier/eissn/1537-6605; https://serval.unil.ch/notice/serval:BIB_A025F20DEEB6Test; urn:issn:0002-9297

الإتاحة: https://doi.org/10.1016/j.ajhg.2022.12.007Test
https://serval.unil.ch/notice/serval:BIB_A025F20DEEB6Test

المؤلفون: Barish, S, Barakat, Stefan, Michel, BC, Mashtalir, N, Phillips, JB, Valencia, AM, Ugur, B, Wegner, J, Scott, TM, Bostwick, B, Murdock, DR, Dai, H, Perenthaler, Elena, Nikoncuk, Anita, Slegtenhorst, Marjon, Brooks, Alice, Keren, B, Nava, C, Mignot, C, Douglas, J, Rodan, L, Nowak, C, Ellard, S, Stals, K, Lynch, SA, Faoucher, M, Lesca, G, Edery, P, Engleman, KL, Zhou, D, Thiffault, I, Herriges, J, Gass, J, Louie, RJ, Stolerman, E, Washington, C, Vetrini, F, Otsubo, A, Pratt, V M, Conboy, E, Treat, K, Shannon, N, Camacho, J, Wakeling, E, Yuan, B, Chen, CA, Rosenfeld, JA, Westerfield, M, Wangler, M, Yamamoto, S

المصدر: Barish , S , Barakat , S , Michel , BC , Mashtalir , N , Phillips , JB , Valencia , AM , Ugur , B , Wegner , J , Scott , TM , Bostwick , B , Murdock , DR , Dai , H , Perenthaler , E , Nikoncuk , A , Slegtenhorst , M , Brooks , A , Keren , B , Nava , C , Mignot , C , Douglas , J , Rodan , L , Nowak , C , Ellard , S , Stals , K , Lynch , SA ....

الإتاحة: https://doi.org/10.1016/j.ajhg.2020.11.003Test
https://pure.eur.nl/en/publications/61200d89-23e1-4e8e-9b61-ae511e64d2f6Test
http://hdl.handle.net/1765/132480Test

المؤلفون: Mak, C.C., Doherty, D., Lin, A.E., Vegas, N., Cho, M.T., Viot, G., Dimartino, C., Weisfeld-Adams, J.D., Lessel, D., Joss, S., Li, C., Gonzaga-Jauregui, C., Zarate, Y.A., Ehmke, N., Horn, D., Troyer, C., Kant, S.G., Lee, Y., Ishak, G.E., Leung, G., Pritchard, A. Barone, Yang, S., Bend, E.G., Filippini, F., Roadhouse, C., Lebrun, N., Mehaffey, M.G., Martin, P.M., Apple, B., Millan, F., Puk, O., Hoffer, M.J.V., Henderson, L.B., McGowan, R., Wentzensen, I.M., Pei, S., Zahir, F.R., Yu, M., Gibson, W.T., Seman, A., Steeves, M., Murrell, J.R., Luettgen, S., Francisco, E., Strom, T.M., Amlie-Wolf, L., Kaindl, A.M., Wilson, W.G., Halbach, S., Basel-Salmon, L., Lev-El, N., Denecke, J., Vissers, L.E.L.M., Radtke, K., Chelly, J., Zackai, E., Friedman, J.M., Bamshad, M.J., Nickerson, D.A., Reid, R.R., Devriendt, K., Chae, J.H., Stolerman, E., McDougall, C., Powis, Z., Bienvenu, T., Tan, T.Y., Orenstein, N., Dobyns, W.B., Shieh, J.T., Choi, M., Waggoner, D., Gripp, K.W., Parker, M.J., Stoler, J., Lyonnet, S., Cormier-Daire, V., Viskochil, D., Hoffman, T.L., Amiel, J., Chung, B.H., Gordon, C.T.

المصدر: Brain, 143, 1, pp. 55-68

مصطلحات موضوعية: Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience

العلاقة: https://hdl.handle.net/2066/218289Test

الإتاحة: https://doi.org/10.1093/brain/awz379Test
https://hdl.handle.net/2066/218289Test

المؤلفون: Stolerman, E. S., Manning, A. K., McAteer, J. B., Fox, C. S., Dupuis, J., Meigs, J. B., Florez, J. C.

المصدر: Diabetologia ; volume 52, issue 4, page 614-620 ; ISSN 0012-186X 1432-0428

مصطلحات موضوعية: Endocrinology, Diabetes and Metabolism, Internal Medicine

الإتاحة: https://doi.org/10.1007/s00125-009-1266-2Test

المؤلفون: Soranzo, N, Sanna, S, Wheeler, E, Gieger, C, Radke, D, Dupuis, J, Bouatia-Naji, N, Langenberg, C, Prokopenko, I, Stolerman, E, Sandhu, MS, Heeney, M, Devaney, J, Reilly, M, Ricketts, S, Stewart, A, Voight, B, Willenborg, C, Wright, B, Altshuler, D, Arking, D, Balkau, B, Barnes, D, Boerwinkle, E, Böhm, B

العلاقة: https://ora.ox.ac.uk/objects/uuid:1ab297bd-cf5f-4546-a409-9600c7cad233Test

الإتاحة: https://ora.ox.ac.uk/objects/uuid:1ab297bd-cf5f-4546-a409-9600c7cad233Test

المؤلفون: Soranzo, N., Sanna, S., Wheeler, E., Gieger, C., Radke, D., Dupuis, J., Bouatia-Naji, N., Langenberg, C., Prokopenko, I., Stolerman, E., Sandhu, M. S., Oexle, K., Egan, J. M., Elosua, R., Ferrucci, L., Forouhi, N., Fox, C. S., Franklin, C., Franzosi, M. G., Gallina, S., Goel, A., Devaney, J. M., Rader, D. J., Graessler, J., Olla, N., Grallert, H., Greinacher, A., Hadley, D., Hall, A., Hamsten, A., Hayward, C., Heath, S., Schunkert, H., Herder, C., Rathmann, W., Homuth, G., Hottenga, J. J., Pankow, J. S., Hunter-Merrill, R., Illig, T., Jackson, A. U., Jula, A., Kleber, M., Schwarz, P., Knouff, C. W., Kong, A., Ripatti, S., Kooner, J., Köttgen, A., Kovacs, P., Payne, F., Krohn, K., Kühnel, B., Kuusisto, J., Seedorf, U., Laakso, M., Lathrop, M., Lecoeur, C., Rocheleau, G., Li, M., Loos, R. J., Luan, J., Peden, J. F., Lyssenko, V., Selvin, E., Mägi, R., Magnusson, P. K., Mälarstig, A., Mangino, M., Roden, M., Martínez-Larrad, M. T., März, W., McArdle, W. L., McPherson, R., Meisinger, C., Serrano-Ríos, M., Pedersen, N. L., Meitinger, T., Melander, O., Mohlke, K. L., Mooser, V. E., Rudan, I., Morken, M. A., Narisu, N., Nathan, D. M., Nauck, M., Shrader, P., Peltonen, L., Perola, M., Polasek, O., Heeney, M. M., Salomaa, V., Saxena, R., Schlessinger, D., Barnes, D., Silveira, A., Siscovick, D., Song, K., Campbell, H., Boerwinkle, E., Spector, T. D., Reilly, M. P., Stefansson, K, Steinthorsdottir, V., Strachan, D. P., Strawbridge, R., Stumvoll, M., Surakka, I., Swift, A. J., Cao, A., Tanaka, T., Böhm, B., Teumer, A., Thorleifsson, G., Ricketts, S. L., Thorsteinsdottir, U., Tönjes, A., Usala, G., Vitart, V., Völzke, H., Chambers, J., Wallaschofski, H., Waterworth, D. M., Bonnefond, A., Watkins, H., Wichmann, H. E., Wild, S. H., Stewart, A. F., Willemsen, G., Williams, G. H., Wilson, J. F., Clark, R., Winkelmann, J., Wright, A. F., WTCCC, Bonnycastle, L. L., Zabena, C., Zhao, J. H., Epstein, S. E., Erdmann, J., Voight, B. F., Hakonarson, H. H., Collins, F. S., Kathiresan, S., Khaw, K. T., Roberts, R., Samani, N. J., Boomsma, D. I., Fleming, M. D., Sladek, R., Abecasis, G., Boehnke, M., Froguel, P., Coresh, J., Willenborg, C., Groop, L., McCarthy, M. I., Kao, W. H., Florez, J. C., Bornstein, S. R., Uda, M., Wareham, N. J., Barroso, I., Meigs, J. B., de Geus, E. J., Wright, B., Altshuler, D., Arking, D., Balkau, B., Böttcher, Y., Bumpstead, S., Burnett-Miller, M. S., O'Donnell, C., Dei, M., Deloukas, P., Döring, A., Porcu, E.

المصدر: PubMed ; http://www.ncbi.nlm.nih.gov/pubmedTest/

مصطلحات موضوعية: Adult, Blood Glucose, Body Mass Index, Chromosome Mapping, Cohort Studies, European Continental Ancestry Group, Female, Genetic Variation, Genome-Wide Association Study, Hemoglobin A, Glycosylated, Humans, Male, Meta-Analysis as Topic, Middle Aged, Polymorphism, Single Nucleotide

العلاقة: Diabetes, 2010, 59 (12), pp. 3229-3239; http://hdl.handle.net/2381/17135Test; http://diabetes.diabetesjournals.org/content/59/12/3229Test; db10-0502

الإتاحة: https://doi.org/10.2337/db10-0502Test
http://hdl.handle.net/2381/17135Test
http://diabetes.diabetesjournals.org/content/59/12/3229Test

المؤلفون: FANG C., CARLSON, C. S., LESLIE, M. P., TULLI, H., STOLERMAN, E., NI, L., AND DI CESARE, PERRIS R., PERRIS, Roberto

المساهمون: Fang, C., Carlson, C. S., Leslie, M. P., Tulli, H., Stolerman, E., Perris, Roberto, Ni, L., AND DI, Cesare, Perris, R.

العلاقة: volume:18; firstpage:593; lastpage:603; journal:JOURNAL OF ORTHOPAEDIC RESEARCH; http://hdl.handle.net/11381/1459441Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-0034232653

الإتاحة: http://hdl.handle.net/11381/1459441Test