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1دورية أكاديمية
المؤلفون: Van Dijck, A, Vulto-van Silfhout, AT, Cappuyns, E, van der Werf, IM, Mancini, GM, Tzschach, A, Bernier, R, Gozes, I, Eichler, EE, Romano, C, Lindstrand, A, Nordgren, A, Kvarnung, M, Kleefstra, T, de Vries, BBA, Kury, S, Rosenfeld, JA, Meuwissen, ME, Vandeweyer, G, Kooy, RF, Bakshi, M, Wilson, M, Berman, Y, Dickson, R, Fransen, E, Helsmoortel, C, Van den Ende, J, Van der Aa, N, van de Wijdeven, MJ, Rosenblum, J, Monteiro, F, Kok, F, Quercia, N, Bowdin, S, Dyment, D, Chitayat, D, Alkhunaizi, E, Boonen, SE, Keren, B, Jacquette, A, Faivre, L, Bezieau, S, Isidor, B, Riess, A, Moog, U, Lynch, SA, McVeigh, T, Elpeleg, O, Smeland, MF, Fannemel, M, van Haeringen, A, Maas, SM, Veenstra-Knol, HE, Schouten, M, Willemsen, MH, Marcelis, CL, Ockeloen, C, van der Burgt, I, Feenstra, I, van der Smagt, J, Jezela-Stanek, A, Krajewska-Walasek, M, Gonzalez-Lamuno, D, Anderlid, BM, Malmgren, H, Nordenskjold, M, Clement, E, Hurst, J, Metcalfe, K, Mansour, S, Lachlan, K, Clayton-Smith, J, Hendon, LG, Abdulrahman, OA, Morrow, E, McMillan, C, Gerdts, J, Peeden, J, Vergano, SAS, Valentino, C, Chung, WK, Ozmore, JR, Bedrosian-Sermone, S, Dennis, A, Treat, K, Hughes, SS, Safina, N, Le Pichon, JB, McGuire, M, Infante, E, Madan-Khetarpal, S, Desai, S, Benke, P, Krokosky, A, Cristian, I, Baker, L, Gripp, K, Stessman, HA, Eichenberger, J, Jayakar, P, Pizzino, A, Manning, MA, Slattery, L
المصدر: Biological psychiatry. 85(4):287-297
مصطلحات موضوعية: Medicin och hälsovetenskap
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2دورية أكاديمية
المؤلفون: Różdżyńska-Świątkowska, A., Ciara, E., Halat-Wolska, P., Krajewska-Walasek, M., Jezela-Stanek, A.
المصدر: Journal of Applied Genetics ; ISSN 1234-1983 2190-3883
مصطلحات موضوعية: Genetics, General Medicine
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3دورية أكاديمية
المؤلفون: van der Sluijs, E.P.J. (Eline (P.J.)), Jansen, S. (Sandra), Vergano, S.A. (Samantha A.), Adachi-Fukuda, M. (Miho), Alanay, Y. (Yasemin), AlKindy, A. (Adila), Baban, A. (Anwar), Bayat, A. (Allan), Beck-Wödl, S. (Stefanie), Berry, K. (Katherine), Bijlsma, E.K. (Emilia), Bok, L.A. (Levinus), Brouwer, A.F.J. (Alwin F. J.), Burgt, I. (Ineke) van der, Campeau, P.M. (Philippe M.), Canham, N. (Natalie), Chrzanowska, K.H. (Krystyna), Chu, Y.W.Y. (Yoyo W. Y.), Chung, B.H.Y. (Brain H. Y.), Dahan, K. (Karin), De Rademaeker, M. (Marjan), Destrée, A. (Anne), Dudding-Byth, T. (Tracy), Earl, R. (Rachel), Elcioglu, N.H. (Nursel), Elias, E.R. (Ellen R.), Fagerberg, C. (Christina), Gardham, A. (Alice), Gener, B. (Blanca), Gerkes, E.H. (Erica H), Grasshoff, U. (Ute), Haeringen, A. (Arie) van, Heitink, K.R. (Karin R.), Herkert, J.C. (Johanna), Hollander, N.S. (Nicolette) den, Horn, D. (Denise), Hunt, D. (David), Kant, S.G. (Sarina), Kato, M. (Mitsuhiro), Kayserili, H. (Hülya), Kersseboom, R. (Rogier), Kilic, E. (Esra), Krajewska-Walasek, M. (Malgorzata), Lammers, K. (Kylin), Laulund, L.W. (Lone W.), Lederer, D. (Damien), Lees, M.M. (Melissa), López-González, V. (V.), Maas, S.M. (Saskia), Mancini, G.M.S. (Grazia), Marcelis, C.L.M. (Carlo), Martinez, F. (Francisco), Maystadt, I. (Isabelle), McGuire, M. (Marianne), McKee, S., Mehta, S. (Sarju), Metcalfe, K. (Kay), Milunsky, J.M. (Jeff), Mizuno, S. (Seiji), Moeschler, J.B. (John B.), Netzer, C. (Christian), Ockeloen, C. (Charlotte), Oehl-Jaschkowitz, B. (Barbara), Okamoto, N. (Nobuhiko), Olminkhof, S.N.M. (Sharon N. M.), Orellana, C. (Carmen), Pasquier, L. (Laurent), Pottinger, C. (Caroline), Riehmer, V. (Vera), Robertson, S.P. (Stephen), Roifman, M. (Maian), Rooryck, C. (Caroline), Ropers, F.G. (Fabienne G.), Rosello, M. (Monica), Ruivenkamp, C.A. (Claudia), Sagiroglu, M.S. (Mahmut S.), Sallevelt, S.C.E.H. (Suzanne), Sanchis Calvo, A. (Amparo), Simsek-Kiper, P.O. (P.), Soares, G. (Gabriela), Solaeche, L. (Lucia), Mujgan Sonmez, F. (Fatma), Splitt, M. (M.), Steenbeek, D. (Duco), Stegmann, A.P.A. (Alexander P. A.), Stumpel, C. (Connie), Tanabe, S. (Saori), Uctepe, E. (Eyyup), Utine, G.E. (G. Eda), Veenstra-Knol, H.E. (Hermine), Venkateswaran, S. (Sunita), Vilain, C. (Catheline), Vincent-Delorme, C. (Catherine), Vulto-van Silfhout, A.T. (Anneke), Wheeler, P. (Patricia), Wilson, G.N. (Golder N.), Wilson, L.C. (Louise), Wollnik, B. (Bernd), Kosho, T. (Tomoki), Wieczorek, D. (Dagmar), Eichler, E.E. (Evan), Pfundt, R. (Rolph), Vries, B. (Boukje) de, Clayton-Smith, J., Santen, G.W.E. (Gijs)
المصدر: Genetics in Medicine
مصطلحات موضوعية: ARID1B, bias, Coffin–Siris syndrome, intellectual disability
وصف الملف: application/pdf
العلاقة: http://repub.eur.nl/pub/111659Test; urn:hdl:1765/111659
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4دورية أكاديمية
المؤلفون: Brioude, F, Kalish, JM, Mussa, A, Foster, AC, Bliek, J, Ferrero, GB, Boonen, SE, Cole, T, Baker, R, Bertoletti, M, Cocchi, G, Coze, C, De Pellegrin, M, Hussain, K, Ibrahim, A, Kilby, MD, Krajewska-Walasek, M, Kratz, CP, Ladusans, EJ, Lapunzina, P, Le Bouc, Y, Maas, SM, Macdonald, F, Õunap, K, Peruzzi, L, Rossignol, S, Russo, S, Shipster, C, Skórka, A, Tatton-Brown, K, Tenorio, J, Tortora, C, Grønskov, K, Netchine, I, Hennekam, RC, Prawitt, D, Tümer, Z, Eggermann, T, Mackay, DJG, Riccio, A, Maher, ER
وصف الملف: application/pdf
العلاقة: https://openaccess.sgul.ac.uk/id/eprint/109710/1/nrendo.2017.166.pdfTest; Brioude, F; Kalish, JM; Mussa, A; Foster, AC; Bliek, J; Ferrero, GB; Boonen, SE; Cole, T; Baker, R; Bertoletti, M; et al. Brioude, F; Kalish, JM; Mussa, A; Foster, AC; Bliek, J; Ferrero, GB; Boonen, SE; Cole, T; Baker, R; Bertoletti, M; Cocchi, G; Coze, C; De Pellegrin, M; Hussain, K; Ibrahim, A; Kilby, MD; Krajewska-Walasek, M; Kratz, CP; Ladusans, EJ; Lapunzina, P; Le Bouc, Y; Maas, SM; Macdonald, F; Õunap, K; Peruzzi, L; Rossignol, S; Russo, S; Shipster, C; Skórka, A; Tatton-Brown, K; Tenorio, J; Tortora, C; Grønskov, K; Netchine, I; Hennekam, RC; Prawitt, D; Tümer, Z; Eggermann, T; Mackay, DJG; Riccio, A; Maher, ER (2018) Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement. Nat Rev Endocrinol, 14 (4). pp. 229-249. ISSN 1759-5037 https://doi.org/10.1038/nrendo.2017.166Test SGUL Authors: Tatton-Brown, Katrina Louise
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5دورية أكاديمية
المؤلفون: Gucht, Anja, Meima, Marcel, Moran, C, de Agostini, M, Tylki-Szymanska, A, Krajewska-Walasek, M, Chrzanowska, K, Efthymiadou, A, Chrysis, D, Demir, K, Visser, Edward, Visser, Theo, Chatterjee, K, van Dijk, Thamar, Peeters, Robin
المصدر: Gucht , A , Meima , M , Moran , C , de Agostini , M , Tylki-Szymanska , A , Krajewska-Walasek , M , Chrzanowska , K , Efthymiadou , A , Chrysis , D , Demir , K , Visser , E , Visser , T , Chatterjee , K , van Dijk , T & Peeters , R 2017 , ' Anemia in Patients With Resistance to Thyroid Hormone alpha: A Role for Thyroid Hormone Receptor a in Human Erythropoiesis ' , Journal of Clinical Endocrinology and Metabolism , vol. 102 , no. 9 , pp. ....
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1210/jc.2017-00840Test
https://pure.eur.nl/en/publications/afaaf4dc-eb39-45b0-a421-9f70c50c6335Test
https://pure.eur.nl/ws/files/47835502/REPUB_102379-OA.pdfTest
http://hdl.handle.net/1765/102379Test -
6دورية أكاديمية
المؤلفون: Ciara, E., Rokicki, D., Halat, P., Karkucińska-Więckowska, A., Piekutowska-Abramczuk, D., Mayr, J., Trubicka, J., Szymańska-Dębińska, T., Pronicki, M., Pajdowska, M., Dudzińska, M., Giżewska, M., Krajewska-Walasek, M., Książyk, J., Sperl, W., Płoski, R., Pronicka, E.
المساهمون: CMHI, National Science Centre Harmonia 4, EU Structural Funds
المصدر: Molecular Genetics and Metabolism Reports ; volume 7, page 70-76 ; ISSN 2214-4269
مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology
الإتاحة: https://doi.org/10.1016/j.ymgmr.2016.03.004Test
https://api.elsevier.com/content/article/PII:S2214426916300167?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2214426916300167?httpAccept=text/plainTest -
7دورية أكاديمية
المؤلفون: Riegel, M, Schinzel, AA, Balmer, D, Tukel, T, Krajewska-Walasek, M, Baumer, A, Dutly, F
المساهمون: 120403
مصطلحات موضوعية: Sağlık Bilimleri, Dahili Tıp Bilimleri, Tıbbi Genetik, Yaşam Bilimleri, Moleküler Biyoloji ve Genetik, Sitogenetik, Temel Bilimler, GENETİK VE HAYAT, Tıp, Yaşam Bilimleri (LIFE), BİYOKİMYA VE MOLEKÜLER BİYOLOJİ
العلاقة: EUROPEAN JOURNAL OF HUMAN GENETICS; Baumer A., Dutly F., Balmer D., Riegel M., Tukel T., Krajewska-Walasek M., Schinzel A., "High level of unequal meiotic crossovers at the origin of the 22q11.2 and 7q11.23 deletions", EUROPEAN JOURNAL OF HUMAN GENETICS, cilt.6, ss.41, 1998; vv_1032021; av_7c6e55ef-80b3-49fb-b774-7655d9f0ce7c; http://hdl.handle.net/20.500.12627/85104Test; 41
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8دورية أكاديمية
المؤلفون: Różdżyńska-Świątkowska, A., Ciara, E., Halat-Wolska, P., Krajewska-Walasek, M., Jezela-Stanek, A.
المصدر: Journal of Applied Genetics ; ISSN 1234-1983 2190-3883
مصطلحات موضوعية: Genetics, General Medicine
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9
المؤلفون: Sluijs, P.J. van der, Jansen, S., Vergano, S.A., Adachi-Fukuda, M., Alanay, Y., AlKindy, A., Baban, A., Bayat, A., Beck-Wodl, S., Berry, K., Bijlsma, E.K., Bok, L.A., Brouwer, A.F.J., Burgt, I. van der, Campeau, P.M., Canham, N., Chrzanowska, K., Chu, Y.W.Y., Chung, B.H.Y., Dahan, K., Rademaeker, M. de, Destree, A., Dudding-Byth, T., Earl, R., Elcioglu, N., Elias, E.R., Fagerberg, C., Gardham, A., Gener, B., Gerkes, E.H., Grasshoff, U., Haeringen, A. van, Heitink, K.R., Herkert, J.C., Hollander, N.S. den, Horn, D., Hunt, D., Kant, S.G., Kato, M., Kayserili, H., Kersseboom, R., Kilic, E., Krajewska-Walasek, M., Lammers, K., Laulund, L.W., Lederer, D., Lees, M., Lopez-Gonzalez, V., Maas, S., Mancini, G.M.S., Marcelis, C., Martinez, F., Maystadt, I., McGuire, M., Mckee, S., Mehta, S., Metcalfe, K., Milunsky, J., Mizuno, S., Moeschler, J.B., Netzer, C., Ockeloen, C.W., Oehl-Jaschkowitz, B., Okamoto, N., Olminkhof, S.N.M., Orellana, C., Pasquier, L., Pottinger, C., Riehmer, V., Robertson, S.P., Roifman, M., Rooryck, C., Ropers, F.G., Rosello, M., Ruivenkamp, C.A.L., Sagiroglu, M.S., Sallevelt, S.C.E.H., Calvo, A.S., Simsek-Kiper, P.O., Soares, G., Solaeche, L., Sonmez, F.M., Splitt, M., Steenbeek, D., Stegmann, A.P.A., Stumpel, C.T.R.M., Tanabe, S., Uctepe, E., Utine, G.E., Veenstra-Knol, H.E., Venkateswaran, S., Vilain, C., Vincent-Delorme, C., Vulto-van Silfhout, A.T., Wheeler, P., Wilson, G.N., Wilson, L.C., Wollnik, B., Kosho, T., Wieczorek, D., Eichler, E., Pfundt, R., Vries, B.B.A. de, Clayton-Smith, J., Santen, G.W.E.
المساهمون: Acibadem University Dspace
المصدر: GENETICS IN MEDICINE
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
r-FISABIO. Repositorio Institucional de Producción Científica
r-FISABIO: Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::6e2a523486202ae0ea0c08bc1d0d21e7Test
https://hdl.handle.net/1887/122494Test -
10دورية أكاديمية
المؤلفون: Piekutowska-Abramczuk, D., Tanska, A., Kowalski, P., Tonska, K., Ciara, E., Jurkiewicz, D., Borucka-Mankiewicz, M., Luczak, S., Pelc, M., Sykut-Cegielska, J., Krajewska-Walasek, M., Bartnik, E., Pronicka, E.
المصدر: Biochimica et Biophysica Acta (BBA) - Bioenergetics ; volume 1797, page 49-50 ; ISSN 0005-2728
مصطلحات موضوعية: Cell Biology, Biochemistry, Biophysics
الإتاحة: https://doi.org/10.1016/j.bbabio.2010.04.163Test
https://api.elsevier.com/content/article/PII:S0005272810002963?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0005272810002963?httpAccept=text/plainTest
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