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1Academic Journal
المؤلفون: Claussnitzer, M, Dankel, SN, Klocke, B, Grallert, H, Glunk, V, Berulava, T, Lee, H, Oskolkov, N, Fadista, J, Ehlers, K, Wahl, S, Hoffmann, C, Qian, K, Ronn, T, Riess, H, Muller-Nurasyid, M, Bretschneider, N, Schroeder, T, Skurk, T, Horsthemke, B, Spieler, D, Klingenspor, M, Seifert, M, Kern, MJ, Mejhert, N, Dahlman, I, Hansson, O, Hauck, SM, Bluher, M, Arner, P, Groop, L, Illig, T, Suhre, K, Hsu, YH, Mellgren, G, Hauner, H, Laumen, H
المصدر: Cell. 156(1-2):343-358
مصطلحات موضوعية: Medicin och hälsovetenskap
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2Academic Journal
المؤلفون: Leitão, E., Schröder, C., Parenti, I., Dalle, C., Rastetter, A., Kühnel, T., Kuechler, A., Kaya, S., Gérard, B., Schaefer, E., Nava, C., Drouot, N., Engel, C., Piard, J., Duban-Bedu1, B., Villard, L., Stegmann, A., Vanhoutte, E., Verdonschot, J., Kaiser, F., Mau-Them, F., Scala, M., Striano, P., Frints, S., Argilli, E., Sherr, E., Elder, F., Buratti, J., Keren, B., Mignot, C., Héron, D., Mandel, J., Gecz, J., Kalscheuer, V., Horsthemke, B., Piton, A., Depienne, C.
المصدر: Nature Communications
وصف الملف: application/pdf
Relation: http://hdl.handle.net/21.11116/0000-000B-6343-A; http://hdl.handle.net/21.11116/0000-000B-6345-8
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3Academic Journal
المؤلفون: Persio, S D, Leitão, E, Wöste, M, Tekath, T, Cremers, J F, Dugas, M, Xiaolin, L, Meye. z. Hörste, G, Kliesch, S, Laurentino, S, Horsthemke, B, Neuhaus, N
المصدر: Human Reproduction ; volume 36, issue Supplement_1 ; ISSN 0268-1161 1460-2350
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4Academic Journal
المؤلفون: Florian R. T., Kraft F., Leitao E., Kaya S., Klebe S., Magnin E., van Rootselaar A. -F., Buratti J., Kuhnel T., Schroder C., Giesselmann S., Tschernoster N., Altmueller J., Lamiral A., Keren B., Nava C., Bouteiller D., Forlani S., Jornea L., Kubica R., Ye T., Plassard D., Jost B., Meyer V., Deleuze J. -F., Delpu Y., Avarello M. D. M., Vijfhuizen L. S., Rudolf G., Hirsch E., Kroes T., Reif P. S., Rosenow F., Ganos C., Vidailhet M., Thivard L., Mathieu A., Bourgeron T., Kurth I., Rafehi H., Steenpass L., Horsthemke B., Berkovic S. F., Bisulli F., Brancati F., Canafoglia L., Casari G., Guerrini R., Ishiura H., Licchetta L., Mei D., Pippucci T., Sadleir L., Scheffer I. E., Striano P., Tinuper P., Tsuji S., Zara F., LeGuern E., Klein K. M., Labauge P., Bennett M. F., Bahlo M., Gecz J., Corbett M. A., Tijssen M. A. J., van den Maagdenberg A. M. J. M., Depienne C.
المساهمون: Florian, R. T., Kraft, F., Leitao, E., Kaya, S., Klebe, S., Magnin, E., van Rootselaar, A. -F., Buratti, J., Kuhnel, T., Schroder, C., Giesselmann, S., Tschernoster, N., Altmueller, J., Lamiral, A., Keren, B., Nava, C., Bouteiller, D., Forlani, S., Jornea, L., Kubica, R., Ye, T., Plassard, D., Jost, B., Meyer, V., Deleuze, J. -F., Delpu, Y., Avarello, M. D. M., Vijfhuizen, L. S., Rudolf, G., Hirsch, E., Kroes, T., Reif, P. S., Rosenow, F., Ganos, C., Vidailhet, M., Thivard, L., Mathieu, A., Bourgeron, T., Kurth, I., Rafehi, H., Steenpass, L., Horsthemke, B., Berkovic, S. F., Bisulli, F., Brancati, F., Canafoglia, L., Casari, G., Guerrini, R., Ishiura, H., Licchetta, L., Mei, D., Pippucci, T., Sadleir, L., Scheffer, I. E., Striano, P., Tinuper, P., Tsuji, S., Zara, F., Leguern, E., Klein, K. M., Labauge, P., Bennett, M. F., Bahlo, M., Gecz, J., Corbett, M. A., Tijssen, M. A. J., van den Maagdenberg, A. M. J. M., Depienne, C.
وصف الملف: STAMPA
Relation: info:eu-repo/semantics/altIdentifier/pmid/31664039; info:eu-repo/semantics/altIdentifier/wos/WOS:000493042500009; volume:10 - Article number: 4919 (2019); firstpage:4919; lastpage:4929; numberofpages:11; journal:NATURE COMMUNICATIONS; http://hdl.handle.net/11567/1022007; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85074285073
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5Academic Journal
المؤلفون: Florian, RT, Kraft, F, Leitao, E, Kaya, S, Klebe, S, Magnin, E, van Rootselaar, A-F, Buratti, J, Kuehnel, T, Schroeder, C, Giesselmann, S, Tschernoster, N, Altmueller, J, lamiral, A, Keren, B, Nava, C, Bouteiller, D, Forlani, S, Jornea, L, Kubica, R, Ye, T, Plassard, D, Jost, B, Meyer, V, Deleuze, J-F, Delpu, Y, Avarello, MDM, Vijfhuizen, LS, Rudolf, G, Hirsch, E, Kroes, T, Reif, PS, Rosenow, F, Ganos, C, Vidailhet, M, Thivard, L, Mathieu, A, Bourgeron, T, Kurth, I, Rafehi, H, Steenpass, L, Horsthemke, B, Berkovic, SF, Bisulli, F, Brancati, F, Canafoglia, L, Casari, G, Guerrini, R, Ishiura, H, Licchetta, L, Mei, D, Pippucci, T, Sadleir, L, Scheffer, IE, Striano, P, Tinuper, P, Tsuji, S, Zara, F, LeGuern, E, Klein, KM, Labauge, P, Bennett, MF, Bahlo, M, Gecz, J, Corbett, MA, Tijssen, MAJ, van den Maagdenberg, AMJM, Depienne, C
Relation: pii: 10.1038/s41467-019-12763-9; Florian, R. T., Kraft, F., Leitao, E., Kaya, S., Klebe, S., Magnin, E., van Rootselaar, A. -F., Buratti, J., Kuehnel, T., Schroeder, C., Giesselmann, S., Tschernoster, N., Altmueller, J., lamiral, A., Keren, B., Nava, C., Bouteiller, D., Forlani, S., Jornea, L. ,. Depienne, C. (2019). Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3. NATURE COMMUNICATIONS, 10 (1), https://doi.org/10.1038/s41467-019-12763-9.; http://hdl.handle.net/11343/245207
الاتاحة: http://hdl.handle.net/11343/245207
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6Academic JournalThe International Human Epigenome Consortium: A Blueprint for Scientific Collaboration and Discovery
المؤلفون: Stunnenberg, H.G., Abrignani, S., Adams, D., de Almeida, M., Altucci, L., Amin, V., Amit, I., Antonarakis, S.E., Aparicio, S., Arima, T., Arrigoni, L., Arts, R., Asnafi, V., Badosa, M.E., Bae, J.-B., Bassler, K., Beck, S., Berkman, B., Bernstein, B.E., Bilenky, M., Bird, A., Bock, C., Boehm, B., Bourque, G., Breeze, C.E., Brors, B., Bujold, D., Burren, O., Bussemakers, M.J., Butterworth, A., Campo, E., Carrillo-de-Santa-Pau, E., Chadwick, L., Chan, K.M., Chen, W., Cheung, T.H., Chiapperino, L., Choi, N.H., Chung, H.-R., Clarke, L., Connors, J.M., Cronet, P., Danesh, J., Dermitzakis, M., Drewes, G., Durek, P., Dyke, S., Dylag, T., Eaves, C.J., Ebert, P., Eils, R., Eils, J., Ennis, C.A., Enver, T., Feingold, E.A., Felder, B., Ferguson-Smith, A., Fitzgibbon, J., Flicek, P., Foo, R.S.-Y., Fraser, P., Frontini, M., Furlong, E., Gakkhar, S., Gasparoni, N., Gasparoni, G., Geschwind, D.H., Glažar, P., Graf, T., Grosveld, F., Guan, X.-Y., Guigo, R., Gut, I.G., Hamann, A., Han, B.-G., Harris, R.A., Heath, S., Helin, K., Hengstler, J.G., Heravi-Moussavi, A., Herrup, K., Hill, S., Hilton, J.A., Hitz, B.C., Horsthemke, B., Hu, M., Hwang, J.-Y., Ip, N.Y., Ito, T., Javierre, B.-M., Jenko, S., Jenuwein, T., Joly, Y., Jones, S.J.M., Kanai, Y., Kang, H.G., Karsan, A., Kiemer, A.K., Kim, S.C., Kim, B.-J., Kim, H.-H., Kimura, H., Kinkley, S., Klironomos, F., Koh, I.-U., Kostadima, M., Kressler, C., Kreuzhuber, R., Kundaje, A., Küppers, R., Larabell, C., Lasko, P., Lathrop, M., Lee, D.H.S., Lee, S., Lehrach, H., Leitão, E., Lengauer, T., Lernmark, Å., Leslie, R.D., Leung, G.K.K., Leung, D., Loeffler, M., Ma, Y., Mai, A., Manke, T., Marcotte, E.R., Marra, M.A., Martens, J.H.A., Martin-Subero, J.I., Maschke, K., Merten, C., Milosavljevic, A., Minucci, S., Mitsuyama, T., Moore, R.A., Müller, F., Mungall, A.J., Netea, M.G., Nordström, K., Norstedt, I., Okae, H., Onuchic, V., Ouellette, F., Ouwehand, W., Pagani, M., Pancaldi, V., Pap, T., Pastinen, T., Patel, R., Paul, D.S., Pazin, M.J., Pelicci, P.G., Phillips, A.G., Polansky, J., Porse, B., Pospisilik, J.A., Prabhakar, S., Procaccini, D.C., Radbruch, A., Rajewsky, N., Rakyan, V., Reik, W., Ren, B., Richardson, D., Richter, A., Rico, D., Roberts, D.J., Rosenstiel, P., Rothstein, M., Salhab, A., Sasaki, H., Satterlee, J.S., Sauer, S., Schacht, C., Schmidt, F., Schmitz, G., Schreiber, S., Schröder, C., Schübeler, D., Schultze, J.L., Schulyer, R.P., Schulz, M., Seifert, M., Shirahige, K., Siebert, R., Sierocinski, T., Siminoff, L., Sinha, A., Soranzo, N., Spicuglia, S., Spivakov, M., Steidl, C., Strattan, J.S., Stratton, M., Südbeck, P., Sun, H., Suzuki, N., Suzuki, Y., Tanay, A., Torrents, D., Tyson, F.L., Ulas, T., Ullrich, S., Ushijima, T., Valencia, A., Vellenga, E., Vingron, M., Wallace, C., Wallner, S., Walter, J., Wang, H., Weber, S., Weiler, N., Weller, A., Weng, A., Wilder, S., Wiseman, S.M., Wu, A.R., Wu, Z., Xiong, J., Yamashita, Y., Yang, X., Yap, D.Y., Yip, K.Y., Yip, S., Yoo, J.-I., Zerbino, D., Zipprich, G., Hirst, M., 木村宏, Hiroshi Kimura
Relation: http://t2r2.star.titech.ac.jp/cgi-bin/publicationinfo.cgi?q_publication_content_number=CTT100896022; oai:t2r2.star.titech.ac.jp:50660655
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7Academic Journal
المؤلفون: Leitão E., Schröder C., Parenti I., Dalle C., Rastetter A., Kühnel T., Kuechler A., Kaya S., Gérard B., Schaefer E., Nava C., Drouot N., Engel C., Piard J., Duban-Bedu B., Villard L., Stegmann A. P. A., Vanhoutte E. K., Verdonschot J. A. J., Kaiser F. J., Tran Mau-Them F., Scala M., Striano P., Frints S. G. M., Argilli E., Sherr E. H., Elder F., Buratti J., Keren B., Mignot C., Héron D., Mandel J. L., Gecz J., Kalscheuer V. M., Horsthemke B., Piton A., Depienne C.
المساهمون: Leitão, E., Schröder, C., Parenti, I., Dalle, C., Rastetter, A., Kühnel, T., Kuechler, A., Kaya, S., Gérard, B., Schaefer, E., Nava, C., Drouot, N., Engel, C., Piard, J., Duban-Bedu, B., Villard, L., Stegmann, A. P. A., Vanhoutte, E. K., Verdonschot, J. A. J., Kaiser, F. J., Tran Mau-Them, F., Scala, M., Striano, P., Frints, S. G. M., Argilli, E., Sherr, E. H., Elder, F., Buratti, J., Keren, B., Mignot, C., Héron, D., Mandel, J. L., Gecz, J., Kalscheuer, V. M., Horsthemke, B., Piton, A., Depienne, C.
وصف الملف: ELETTRONICO
Relation: info:eu-repo/semantics/altIdentifier/pmid/36323681; info:eu-repo/semantics/altIdentifier/wos/WOS:000879356300008; volume:13; firstpage:6570; lastpage:6587; numberofpages:18; journal:NATURE COMMUNICATIONS; https://hdl.handle.net/11567/1119303; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85141183419
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8Academic Journal
المؤلفون: Holland, A., Whittington, J., Cohen, O., Curfs, L., Delahaye, F., Dudley, O., Horsthemke, B., Lindgren, A. -C, Nourissier, C., Sharma, N., Vogels, A.
المصدر: Journal of Intellectual Disability Research. Jun 2009 53(6):538-547.
Peer Reviewed: Y
Page Count: 10
Descriptors: Data Collection, Databases, Genetic Disorders, Neurological Impairments, Age Differences, Symptoms (Individual Disorders), Foreign Countries, Cooperation, Research Methodology, Disabilities, Research Needs
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9Academic JournalThe International Human Epigenome Consortium: A Blueprint for Scientific Collaboration and Discovery
المؤلفون: Stunnenberg, HG, Abrignani, S, Adams, D, de Almeida, M, Altucci, L, Amin, V, Amit, I, Antonarakis, SE, Aparicio, S, Arima, T, Arrigoni, L, Arts, R, Asnafi, V, Badosa, ME, Bae, JB, Bassler, K, Beck, S, Berkman, B, Bernstein, BE, Bilenky, M, Bird, A, Bock, C, Boehm, B, Bourque, G, Breeze, CE, Brors, B, Bujold, D, Burren, O, Bussemakers, MJ, Butterworth, A, Campo, E, Carrillo-de-Santa-Pau, E, Chadwick, L, Chan, KM, Chen, W, Cheung, TH, Chiapperino, L, Choi, NH, Chung, HR, Clarke, L, Connors, JM, Cronet, P, Danesh, J, Dermitzakis, M, Drewes, G, Durek, P, Dyke, S, Dylag, T, Eaves, CJ, Ebert, P, Eils, R, Eils, J, Ennis, CA, Enver, T, Feingold, EA, Felder, B, Ferguson-Smith, A, Fitzgibbon, J, Flicek, P, Foo, RSY, Fraser, P, Frontini, M, Furlong, E, Gakkhar, S, Gasparoni, N, Gasparoni, G, Geschwind, DH, Glažar, P, Graf, T, Grosveld, F, Guan, XY, Guigo, R, Gut, IG, Hamann, A, Han, BG, Harris, RA, Heath, S, Helin, K, Hengstler, JG, Heravi-Moussavi, A, Herrup, K, Hill, S, Hilton, JA, Hitz, BC, Horsthemke, B, Hu, M, Hwang, JY, Ip, NY, Ito, T, Javierre, BM, Jenko, S, Jenuwein, T, Joly, Y, Jones, SJM, Kanai, Y, Kang, HG, Karsan, A, Kiemer, AK, Kim, SC
المصدر: Cell , 167 (5) pp. 1145-1149. (2016)
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/1530708/1/Stunnenberg_International_Human_Epigenome_Consortium.pdf; https://discovery.ucl.ac.uk/id/eprint/1530708/
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10Academic Journal
المؤلفون: Wallner, S., Schröder, C., Leitão, E., Berulava, T., Haak, C., Beißer, D., Rahmann, S., Richter, A., Manke, T., Bönisch, U., Arrigoni, L., Fröhler, S., Klironomos, F., Chen, W., Rajewsky, N., Müller, F., Ebert, P., Lengauer, T., Barann, M., Rosenstiel, P., Gasparoni, G., Nordström, K., Walter, J., Brors, B., Zipprich, G., Felder, B., Klein-Hitpass, L., Attenberger, C., Schmitz, G., Horsthemke, B.
المصدر: Epigenetics & Chromatin
وصف الملف: application/pdf
Relation: http://hdl.handle.net/11858/00-001M-0000-002B-1691-6; http://hdl.handle.net/11858/00-001M-0000-002B-1693-2
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11Academic Journal
المؤلفون: Trapphoff, T., Heiligentag, M., Dankert, D., Demond, H., Deutsch, D., Fröhlich, T., Arnold, G.J., Grümmer, R., Horsthemke, B., Eichenlaub-Ritter, U.
المساهمون: German Research Foundation
المصدر: Human Reproduction ; volume 31, issue 1, page 133-149 ; ISSN 0268-1161 1460-2350
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12Conference
المؤلفون: Pechlivanis, S, Scherag, A, Mühleisen, TW, Möhlenkamp, S, Horsthemke, B, Erbel, R, Jöckel, KH, Nöthen, MM, Moebus, S, Heinz Nixdorf Recall Study Group
المصدر: 54. Jahrestagung der Deutschen Gesellschaft für Medizinische Informatik, Biometrie und Epidemiologie (gmds); 20090907-20090910; Essen; DOC09gmds138 /20090831/
مصطلحات موضوعية: Type 2 diabetes, Coronary artery calcification, Genetic, Polymorphism, PPARG, IGF2BP2, CDKAL1, SLC30A8, CDKN2A/2B, HHEX, TCF7L2, FTO, ddc: 610
Relation: http://dx.doi.org/10.3205/09gmds138; http://nbn-resolving.de/urn:nbn:de:0183-09gmds1384; http://www.egms.de/en/meetings/gmds2009/09gmds138.shtml
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13Academic Journal
المؤلفون: Beygo J., Citro V., Sparago A., De crescenzo A., Cerrato F., Heitmann M., Rademacher K., Guala A., Enklaar T., Anichini C., Cirillo silengo M., Graf N., Prawitt D., Cubellis M. V., Horsthemke B., Buiting K., Riccio A.
المساهمون: J. Beygo, V. Citro, A. Sparago, A. De crescenzo, F. Cerrato, M. Heitmann, K. Rademacher, A. Guala, T. Enklaar, C. Anichini, M. Cirillo silengo, N. Graf, D. Prawitt, M.V. Cubelli, B. Horsthemke, K. Buiting, A. Riccio
مصطلحات موضوعية: Beckwith-Wiedemann-syndrome, Silver-Russel-syndrome, insulator protein CTCF, Wilms-tumor, methalation, H19, defect, locu, microdeletion, mutation, Settore BIO/11 - Biologia Molecolare, Settore MED/04 - Patologia Generale, Settore BIO/13 - Biologia Applicata
Relation: info:eu-repo/semantics/altIdentifier/pmid/23118352; info:eu-repo/semantics/altIdentifier/wos/WOS:000313531500011; volume:22; issue:3; firstpage:544; lastpage:557; numberofpages:14; journal:HUMAN MOLECULAR GENETICS; http://hdl.handle.net/2434/724716; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84872373720
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14Academic Journal
المؤلفون: Kuehnen, P., Mischke, M., Wiegand, S., Sers, C., Horsthemke, B., Lau, S., Keil, T., Lee, Y.A., Grueters, A., Krude, H.
مصطلحات موضوعية: Cardiovascular and Metabolic Diseases
وصف الملف: application/pdf
Relation: http://edoc.mdc-berlin.de/12292/1/12292oa.pdf; An Alu element-associated hypermethylation variant of the POMC gene is associated with childhood obesity. Kuehnen, P. and Mischke, M. and Wiegand, S. and Sers, C. and Horsthemke, B. and Lau, S. and Keil, T. and Lee, Y.A. and Grueters, A. and Krude, H. PLoS Genetics 8 (3): e1002543. 15 March 2012
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15Academic Journal
المؤلفون: Poplinski, A., Tüttelmann, F., Kanber, D., Horsthemke, B., Gromoll, J.
المصدر: International Journal of Andrology ; volume 33, issue 4, page 642-649 ; ISSN 0105-6263 1365-2605
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16Academic Journal
المؤلفون: Buiting, K., Kanber, D., Horsthemke, B., Lohmann, D.
المصدر: Briefings in Functional Genomics ; volume 9, issue 4, page 347-353 ; ISSN 2041-2649 2041-2657
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17Academic Journal
المؤلفون: Fischer, S, Kohlhase, J, Böhm, D, Schweiger, B, Hoffmann, D, Heitmann, M, Horsthemke, B, Wieczorek, D
مصطلحات موضوعية: Letters to JMG
وصف الملف: text/html
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18Academic Journal
المؤلفون: Marbach, F., Elgizouli, M., Rech, M., Beygo, J., Erger, F., Velmans, C., Stumpel, C. T. R. M., Stegmann, A. P. A., Beck-Woedl, S., Gillessen-Kaesbach, G., Horsthemke, B., Schaaf, C. P., Kuechler, A.
مصطلحات موضوعية: ddc:no
Relation: Marbach, F., Elgizouli, M., Rech, M., Beygo, J., Erger, F., Velmans, C., Stumpel, C. T. R. M., Stegmann, A. P. A., Beck-Woedl, S., Gillessen-Kaesbach, G., Horsthemke, B., Schaaf, C. P. and Kuechler, A. (2020). The adult phenotype of Schaaf-Yang syndrome. Eur. J. Hum. Genet., 28 (SUPPL 1). S. 360 - 361. LONDON: SPRINGERNATURE. ISSN 1476-5438
الاتاحة: https://kups.ub.uni-koeln.de/30905/
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19Academic Journal
المؤلفون: Ludwig, M, Katalinic, A, Groß, S, Sutcliffe, A, Varon, R, Horsthemke, B
مصطلحات موضوعية: Hypothesis
وصف الملف: text/html
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20Academic Journal
المؤلفون: Ludwig, M., Katalinic, A., Gross, S., Varon, R., Horsthemke, B.
المصدر: Fertility and Sterility ; volume 82, page S49 ; ISSN 0015-0282