المؤلفون: Scherer, SW, Cheung, J, MacDonald, JR, Osborne, LR, Nakabayashi, K, Herbrick, JA, Carson, AR, Parker-Katiraee, L, Skaug, J, Khaja, R, Zhang, JJ, Hudek, AK, Li, M, Haddad, M, Duggan, GE, Fernandez, BA, Kanematsu, E, Gentles, S, Christopoulos, CC, Choufani, S, Kwasnicka, D, Zheng, XQH, Lai, ZW, Nusskern, D, Zhang, Q, Gu, ZP, Lu, F, Zeesman, S, Nowaczyk, MJ, Teshima, I, Chitayat, D, Shuman, C, Weksberg, R, Zackai, EH, Grebe, TA, Cox, SR, Kirkpatrick, SJ, Rahman, N, Friedman, JM, Heng, HHQ, Pelicci, PG, Lo-Coco, F, Belloni, E, Shaffer, LG, Pober, B, Morton, CC, Gusella, JF, Bruns, GAP, Korf, BR, Quade, BJ, Ligon, AH, Ferguson, H, Higgins, AW, Leach, NT, Herrick, SR, Lemyre, E, Farra, CG, Kim, HG, Summers, AM, Gripp, KW, Roberts, W, Szatmari, P, Winsor, EJT, Grzeschik, KH, Teebi, A, Minassian, BA, Kere, J, Armengol, L, Pujana, MA, Estivill, X, Wilson, MD, Koop, BF, Tosi, S, Moore, GE, Boright, AP, Zlotorynski, E, Kerem, B, Kroisel, PM, Petek, E, Oscier, DG, Mould, SJ, Dohner, H, Dohner, K, Rommens, JM, Vincent, JB, Venter, JC, Li, PW, Mural, RJ, Adams, MD, Tsui, LC

المصدر: Science (New York, N.Y.). 300(5620):767-772

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:1934840Test

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

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

المؤلفون: Redin, C, van den Brand, H, Collins, RL, Kammin, T, Mitchell, E, Hodge, JC, Hanscom, C, Pillalamarri, V, Seabra, CM, Abbott, MA, Abdul-Rahman, OA, Aberg, E, Adley, R, Alcaraz-Estrada, SL, Alkuraya, FS, An, Y, Anderson, MA, Antolik, C, Anyane-Yeboa, K, Atkin, JF, Bartell, T, Bernstein, JA, Beyer, E, Blumenthal, I, Bongers, E, Brilstra, EH, Brown, CW, Bruggenwirth, HT, Callewaert, B, Chiang, C, Corning, K, Cox, H, Cuppen, E, Currall, BB, Cushing, T, David, D, Deardorff, MA, Dheedene, A, D'Hooghe, M, de Vries, BBA, Earl, DL, Ferguson, HL, Fisher, H, Fitzpatrick, DR, Gerrol, P, Giachino, D, Glessner, JT, Gliem, T, Grady, M, Graham, BH, Griffis, C, Gripp, KW, Gropman, AL, Hanson-Kahn, A, Harris, DJ, Hayden, MA, Hill, R, Hochstenbach, R, Hoffman, J D, Hopkin, RJ, Hubshman, MW, Innes, AM, Irons, M, Irving, M, Jacobsen, JC, Janssens, S, Jewett, T, Johnson, JP, Jongmans, M C, Kahler, SG, Koolen, DA (David), Korzelius, J, Kroisel, PM, Lacassie, Y, Lawless, W, Lemyre, E, Leppig, K, Levin, AV, Li, HB, Li, H, Liao, EC, Lim, C, Lose, EJ, Lucente, D, Macera, MJ, Manavalan, P, Mandrile, G, Marcelis, CL, Margolin, L, Mason, T, Masser-Frye, D, McClellan, MW, Mendoza, CJZ, Menten, B, Middelkamp, S, Mikami, LR, Moe, E, Mohammed, S, Mononen, T, Mortenson, ME, Moya, G, Nieuwint, AW, Ordulu, Z, Parkash, S, Pauker, SP, Pereira, S, Perrin, D, Phelan, K, Aguilar, REP, Poddighe, PJ, Pregno, G, Raskin, S, Reis, L, Rhead, W, Rita, D, Renkens, I, Roelens, F, Ruliera, J, Rump, P, Schilit, SLP, Shaheen, R, Sparkes, R, Spiegel, E, Stevens, B, Stone, MR, Tagoe, J, Thakuria, JV, van Bon, BW, Kamp, J, van der Burgt, I, van Essen, T, van Ravenswaaij-Arts, CM, van Roosmalen, MJ, Vergult, S, Volker-Touw, CML, Warburton, DP, Waterman, MJ, Wiley, S, Wilson, A, Yerena-de Vega, MDA, Zori, RT, Levy, B, Brunner, HG, de Leeuw, N, Kloosterman, WP, Thorland, EC, Morton, CC, Gusella, JF, Talkowski, ME

المصدر: Redin , C , van den Brand , H , Collins , RL , Kammin , T , Mitchell , E , Hodge , JC , Hanscom , C , Pillalamarri , V , Seabra , CM , Abbott , MA , Abdul-Rahman , OA , Aberg , E , Adley , R , Alcaraz-Estrada , SL , Alkuraya , FS , An , Y , Anderson , MA , Antolik , C , Anyane-Yeboa , K , Atkin , JF , Bartell , T , Bernstein , JA , Beyer , E , Blumenthal , I , Bongers ....

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01, name=EMC OR-01

العلاقة: https://pure.eur.nl/en/publications/0fcc4f6c-08f0-40fb-8699-0b62afce544cTest

الإتاحة: https://doi.org/10.1038/ng.3720Test
https://pure.eur.nl/en/publications/0fcc4f6c-08f0-40fb-8699-0b62afce544cTest
http://hdl.handle.net/1765/108340Test

المؤلفون: Van Der Werf, CS, Wabbersen, TD, Hsiao, NH, Paredes, J, Etchevers, HC, Kroisel, PM, Tibboel, Dick, Babarit, C, Schreiber, RA, Hoffenberg, EJ, Vekemans, M, Zeder, SL, Ceccherini, I, Lyonnet, S, Ribeiro, AS, Seruca, R, Meerman, GJT, van Ijzendoorn, SCD, Shepherd, IT, Verheij, JBGM, Hofstra, Robert

المصدر: Van Der Werf , CS , Wabbersen , TD , Hsiao , NH , Paredes , J , Etchevers , HC , Kroisel , PM , Tibboel , D , Babarit , C , Schreiber , RA , Hoffenberg , EJ , Vekemans , M , Zeder , SL , Ceccherini , I , Lyonnet , S , Ribeiro , AS , Seruca , R , Meerman , GJT , van Ijzendoorn , SCD , Shepherd , IT , Verheij , JBGM & Hofstra , R 2012 , ' CLMP Is Required for Intestinal Development, and Loss-of-Function Mutations Cause ....

مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, SDG 3 - Good Health and Well-being

الإتاحة: https://doi.org/10.1053/j.gastro.2011.11.038Test
https://pure.eur.nl/en/publications/55e679a9-6c7f-4431-b9d8-0281f3dde723Test
http://hdl.handle.net/1765/71322Test

المؤلفون: Jacquemont S, Reymond A, Zufferey F, Harewood L, Walters RG, Kutalik Z, Martinet D, Shen Y, Valsesia A, Beckmann ND, Thorleifsson G, Belfiore M, Bouquillon S, Campion D, de Leeuw N, de Vries BB, Esko T, Fernandez BA, Fernández-Aranda F, Fernández-Real JM, Gratacòs M, Guilmatre A, Hoyer J, Jarvelin MR, Kooy RF, Kurg A, Le Caignec C, Männik K, Platt OS, Sanlaville D, Van Haelst MM, Villatoro Gomez S, Walha F, Wu BL, Yu Y, Aboura A, Addor MC, Alembik Y, Antonarakis SE, Arveiler B, Barth M, Bednarek N, Béna 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, El-Sayed Moustafa JS, Elliott P, Faas BH, 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, Jiménez-Murcia S, Helas GJ, Jonveaux P, Kaksonen S, Keren B, Kloss-Brandstätter A, Knoers NV, 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, Tengström C, Thorsteinsdóttir U, Tinahones FJ, Touraine R, Vallée L, van Binsbergen E, Van der Aa N, Vincent-Delorme C, Visvikis-Siest S, Vollenweider P, Völzke 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 AI, Beckmann JS, Froguel P

المساهمون: Jacquemont, S, Reymond, A, Zufferey, F, Harewood, L, Walters, Rg, Kutalik, Z, Martinet, D, Shen, Y, Valsesia, A, Beckmann, Nd, Thorleifsson, G, Belfiore, M, Bouquillon, S, Campion, D, de Leeuw, N, de Vries, Bb, Esko, T, Fernandez, Ba, Fernández-Aranda, F, Fernández-Real, Jm, Gratacòs, M, Guilmatre, A, Hoyer, J, Jarvelin, Mr, Kooy, Rf, Kurg, A, Le Caignec, C, Männik, K, Platt, O, Sanlaville, D, Van Haelst, Mm, Villatoro Gomez, S, Walha, F, Wu, Bl, Yu, Y, Aboura, A, Addor, Mc, Alembik, Y, Antonarakis, Se, Arveiler, B, Barth, M, Bednarek, N, Béna, 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, El-Sayed Moustafa, J, Elliott, P, Faas, Bh, 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, Jiménez-Murcia, S, Helas, Gj

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000295575400042; journal:NATURE; https://hdl.handle.net/11588/916957Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-80053920983

الإتاحة: https://hdl.handle.net/11588/916957Test

المؤلفون: Kroepfl, T, Petek, E, Schwarzbraun, T, Kroisel, PM, Plecko, B

المصدر: Clinical Genetics ; volume 73, issue 5, page 492-495 ; ISSN 0009-9163 1399-0004

الإتاحة: https://doi.org/10.1111/j.1399-0004.2008.00982.xTest

المؤلفون: Kaufhold, A, Kroisel, PM, Haas, JP, Tomczak, H, Armbrust, S, Tönnies, H, Stiller, B, Fusch, C

المصدر: Zeitschrift für Geburtshilfe und Neonatologie ; volume 210, issue S 5 ; ISSN 0948-2393 1439-1651

الإتاحة: https://doi.org/10.1055/s-2006-943288Test

المؤلفون: Maier, E, Kroisel, PM, Claes, L, De Jonghe, P, Mach, M, Petek, E, Plecko, B

المصدر: Neuropediatrics ; volume 36, issue 02 ; ISSN 0174-304X 1439-1899

الإتاحة: https://doi.org/10.1055/s-2005-867975Test

المؤلفون: Runte, Maren, Kroisel, PM, Gillessen-Kaesbach, G, Varon, R, Horn, D, Cohen, MY, Wagstaff, J, Horsthemke, B, Buiting, K

المصدر: Human Genetics, 114 (6), 553-561 (2004)

مصطلحات موضوعية: Life sciences, Genetics & genetic processes, Sciences du vivant, Génétique & processus génétiques

العلاقة: urn:issn:1432-1203; https://orbilu.uni.lu/handle/10993/20842Test; info:hdl:10993/20842; scopus-id:2-s2.0-2942744481; info:pmid:15014980; wos:000220966500005

الإتاحة: https://doi.org/10.1007/s00439-004-1104-zTest
https://orbilu.uni.lu/handle/10993/20842Test

المؤلفون: Zhang, J, Gusella, JF, Morton, CC, Pober, B, Shaffer, LG, Belloni, E, LoCoco, F, Pelicci, PG, Farra, CG, Kim, HG, Summers, AM, Gripp, KW, Roberts, W, Heng, HHQ, Friedman, JM, Rahman, N, Kirkpatrick, SJ, Cox, SR, Grebe, TA, Zackai, EH, Weksberg, R, Shuman, C, Chitayat, D, Teshima, I, Nowaczyk, MJ, Zeesman, S, Lu, F, Gu, Z, Zhang, Q, Nusskern, D, Lai, Z, Zheng, XH, Kwasnicka, D, Choufani, S, Christopoulos, CC, Gentles, S, Kanematsu, E, Fernandez, BA, Duggan, GE, Haddad, M, Li, M, Hudek, AK, Bruns, GAP, Khaja, R, Skaug, J, ParkerKatiraee, L, Carson, AR, Herbrick, JA, Szatmari, P, Nakabayashi, K, Winsor, EJT, Grzeschik, KH, Teebi, A, Minassian, BA, Kere, J, Armengol, L, Pujana, MA, Estivill, X, Osborne, LR, MacDonald, JR, Cheung, J, Scherer, SW, Wilson, MD, Koop, BF, Tosi, S, Moore, GE, Boright, AP, Zlotorynski, E, Kerem, B, Kroisel, PM, Petek, E, Oscier, DG, Mould, SJ, Döhner, H, Döhner, K, Rommens, JM, Vincent, JB, Venter, JC, Li, PW, Mural, RJ, Adams, MD, Tsui, LC, Lemyre, E, Herrick, SR, Leach, NT, Higgins, AW, Ferguson, H, Ligon, AH, Quade, BJ, Korf, BR

مصطلحات موضوعية: Dna, complementary, Expressed sequence tags, Chromosomes, human, pair 7 - genetics, Genetic diseases, inborn - genetics, Sequence analysis

العلاقة: Science; http://www.scopus.com/mlt/select.url?eid=2-s2.0-0038756128&selection=ref&src=s&origin=recordpageTest; Science, 2003, v. 300 n. 5620, p. 767-772; 772; WOS:000182579800041; 5620; http://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0036-8075&volume=300&issue=5620&spage=767&epage=772&date=2003&atitle=Human+Chromosome+7:+DNA+sequence+and+biologyTest; PMC2882961; eid_2-s2.0-0038756128; 767; http://hdl.handle.net/10722/44382Test; 300

الإتاحة: https://doi.org/10.1126/science.1083423Test
http://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0036-8075&volume=300&issue=5620&spage=767&epage=772&date=2003&atitle=Human+Chromosome+7:+DNA+sequence+and+biologyTest
http://hdl.handle.net/10722/44382Test