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1دورية أكاديمية
المؤلفون: Chilunga, FP, Henneman, P, Elliott, HR, Cronjé, HT, Walia, GK, Meeks, KAC, Requena-Mendez, A, Venema, A, Bahendeka, S, Danquah, I, Adeyemo, A, Klipstein-Grobusch, K, Pieters, M, Mannens, MMAM, Agyemang, C
المصدر: The lancet. Healthy longevity. 2(6):E327-E339
مصطلحات موضوعية: Medicin och hälsovetenskap
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2دورية أكاديمية
المؤلفون: Verberne, EA, Goh, SX, England, J, van Ginkel, M, Rafael-Croes, L, Maas, S, Polstra, A, Zarate, YA, Bosanko, KA, Pechter, KB, Bedoukian, E, Izumi, K, Chaudhry, A, Robin, NH, Boothe, M, Lippa, NC, Aggarwal, V, De Vivo, DC, Lehman, A, Stockler, S, Bruel, AL, Isidor, B, Lemons, J, Rodriguez-Buritica, DF, Richmond, CM, Stark, Z, Agrawal, PB, Kooy, RF, Meuwissen, MEC, Koolen, DA, Pfundt, R, Lieden, A, Anderlid, BM, Glatz, D, Mannens, MMAM, Bakshi, M, Mallette, FA, van Haelst, MM, Campeau, PM
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 23(2):374-383
مصطلحات موضوعية: Medicin och hälsovetenskap
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3دورية أكاديمية
المؤلفون: Verberne, EA, van der Laan, L, Haghshenas, S, Rooney, K, Levy, MA, Alders, M, Maas, SM, Jansen, S, Lieden, A, Anderlid, BM, Rafael-Croes, L, Campeau, PM, Chaudhry, A, Koolen, DA, Pfundt, R, Hurst, ACE, Tran-Mau-Them, F, Bruel, AL, Lambert, L, Isidor, B, Mannens, MMAM, Sadikovic, B, Henneman, P, van Haelst, MM
المصدر: International journal of molecular sciences. 23(14)
مصطلحات موضوعية: Medicin och hälsovetenskap
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4دورية أكاديمية
المؤلفون: Chilunga, FP, Henneman, P, Venema, A, Meeks, KAC, Requena-Mendez, A, Beune, E, Mockenhaupt, FP, Smeeth, L, Bahendeka, S, Danquah, I, Klipstein-Grobusch, K, Adeyemo, A, Mannens, MMAM, Agyemang, C
المصدر: NPJ genomic medicine. 6(1):46
مصطلحات موضوعية: Medicin och hälsovetenskap
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5دورية أكاديمية
المؤلفون: van Kuilenburg, ABP, Meijer, J, Mul, ANPM, Meinsma, R, Schmid, V, Dobritzsch, D, Hennekam, RCM, Mannens, MMAM, Kiechle, M, Etienne-Grimaldi, MC, Klumpen, HJ, Maring, JG, Derleyn, VA, Maartense, E, Milano, G, Vijzelaar, R, Gross, E
المصدر: Human genetics. 128(5):529-538
مصطلحات موضوعية: Medicin och hälsovetenskap
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6دورية أكاديمية
المؤلفون: Levy, MA, McConkey, H, Kerkhof, J, Barat-Houari, M, Bargiacchi, S, Biamino, E, Bralo, MP, Cappuccio, G, Ciolfi, A, Clarke, A, DuPont, BR, Elting, MW, Faivre, L, Fee, T, Fletcher, RS, Cherik, F, Foroutan, A, Friez, MJ, Gervasini, C, Haghshenas, S, Hilton, BA, Jenkins, Z, Kaur, S, Lewis, S, Louie, RJ, Maitz, S, Milani, D, Morgan, AT, Oegema, R, Østergaard, E, Pallares, NR, Piccione, M, Pizzi, S, Plomp, AS, Poulton, C, Reilly, J, Relator, R, Rius, R, Robertson, S, Rooney, K, Rousseau, J, Santen, GWE, Santos-Simarro, F, Schijns, J, Squeo, GM, St John, M, Thauvin-Robinet, C, Traficante, G, van der Sluijs, PJ, Vergano, SA, Vos, N, Walden, KK, Azmanov, D, Balci, T, Banka, S, Gecz, J, Henneman, P, Lee, JA, Mannens, MMAM, Roscioli, T, Siu, V, Amor, DJ, Baynam, G, Bend, EG, Boycott, K, Brunetti-Pierri, N, Campeau, PM, Christodoulou, J, Dyment, D, Esber, N, Fahrner, JA, Fleming, MD, Genevieve, D, Kerrnohan, KD, McNeill, A, Menke, LA, Merla, G, Prontera, P, Rockman-Greenberg, C, Schwartz, C, Skinner, SA, Stevenson, RE, Vitobello, A, Tartaglia, M, Alders, M, Tedder, ML, Sadikovic, B
المصدر: urn:ISSN:2666-2477 ; Human Genetics and Genomics Advances, 3, 1, 100075
مصطلحات موضوعية: Genetics, Brain Disorders, Biotechnology, Human Genome, Clinical Research, Genetic Testing, 2 Aetiology, 4 Detection, screening and diagnosis, 2.1 Biological and endogenous factors, 4.1 Discovery and preclinical testing of markers and technologies, Generic health relevance, Clinical diagnostics, DNA methylation, Epigenetics, Episignatures, Neurodevelopmental disorders
وصف الملف: application/pdf
العلاقة: http://hdl.handle.net/1959.4/unsworks_78775Test; https://unsworks.unsw.edu.au/bitstreams/89d9f616-5d1d-48c9-bf65-5ec9d92e2243/downloadTest; https://unsworks.unsw.edu.au/bitstreams/dd07773a-6272-4e23-8592-b96422f494dd/downloadTest; https://doi.org/10.1016/j.xhgg.2021.100075Test
الإتاحة: https://doi.org/10.1016/j.xhgg.2021.100075Test
http://hdl.handle.net/1959.4/unsworks_78775Test
https://unsworks.unsw.edu.au/bitstreams/89d9f616-5d1d-48c9-bf65-5ec9d92e2243/downloadTest
https://unsworks.unsw.edu.au/bitstreams/dd07773a-6272-4e23-8592-b96422f494dd/downloadTest -
7دورية أكاديمية
المؤلفون: Solanky, N, Ishida, M, Aléman-Charlet, C, Abu-Amero, S, Alders, M, Alvizi, L, Baird, W, Demetriou, C, Henneman, P, James, C, Knegt, AC, Leon, LJ, Mannens, MMAM, Mul, AN, Nibbering, NA, Peskett, E, Rezwan, FI, Ris-Stalpers, C, van der Post, JAM, Kamp, GA, Plotz, FB, Wit, JM, Stanier, PM, Moore, GE, Hennekam, RC
المصدر: Journal of Clinical Endocrinology and Metabolism , 103 (3) pp. 917-925. (2018)
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10041368/1/James_talman%20et%20al%20JCEM.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10041368Test/
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8دورية أكاديمية
المؤلفون: Levy MA, Relator R, McConkey H, Pranckeviciene E, Kerkhof J, Barat-Houari M, Bargiacchi S, Biamino E, Palomares Bralo M, Cappuccio G, Ciolfi A, Clarke A, DuPont BR, Elting MW, Faivre L, Fee T, Ferilli M, Fletcher RS, Cherick F, Foroutan A, Friez MJ, Gervasini C, Haghshenas S, Hilton BA, Jenkins Z, Kaur S, Lewis S, Louie RJ, Maitz S, Milani D, Morgan AT, Oegema R, Østergaard E, Pallares NR, Piccione M, Plomp AS, Poulton C, Reilly J, Rius R, Robertson S, Rooney K, Rousseau J, Santen GWE, Santos-Simarro F, Schijns J, Squeo GM, John MS, Thauvin-Robinet C, Traficante G, van der Sluijs PJ, Vergano SA, Vos N, Walden KK, Azmanov D, Balci TB, Banka S, Gecz J, Henneman P, Lee JA, Mannens MMAM, Roscioli T, Siu V, Amor DJ, Baynam G, Bend EG, Boycott K, Brunetti-Pierri N, Campeau PM, Campion D, Christodoulou J, Dyment D, Esber N, Fahrner JA, Fleming MD, Genevieve D, Heron D, Husson T, Kernohan KD, McNeill A, Menke LA, Merla G, Prontera P, Rockman-Greenberg C, Schwartz C, Skinner SA, Stevenson RE, Vincent M, Vitobello A, Tartaglia M, Alders M, Tedder ML, Sadikovic B.
المساهمون: M. Levy, R. Relator, H. Mcconkey, E. Pranckeviciene, J. Kerkhof, M. Barat-Houari, S. Bargiacchi, E. Biamino, M. Palomares Bralo, G. Cappuccio, A. Ciolfi, A. Clarke, B. Dupont, M. Elting, L. Faivre, T. Fee, M. Ferilli, R. Fletcher, F. Cherick, A. Foroutan, M. Friez, C. Gervasini, S. Haghshena, B. Hilton, Z. Jenkin, S. Kaur, S. Lewi, R. Louie, S. Maitz, D. Milani, A. Morgan, R. Oegema, E. Østergaard, N. Pallare, M. Piccione, A. Plomp, C. Poulton, J. Reilly, R. Riu, S. Robertson, K. Rooney, J. Rousseau, G. Santen, F. Santos-Simarro, J. Schijn, G. Squeo, M. John, C. Thauvin-Robinet, G. Traficante, P. van der Sluij, S. Vergano, N. Vo, K. Walden, D. Azmanov, T. Balci, S. Banka, J. Gecz, P. Henneman, J. Lee, M. Mannen, T. Roscioli, V. Siu, D. Amor, G. Baynam, E. Bend, K. Boycott, N. Brunetti-Pierri, P. Campeau, D. Campion, J. Christodoulou, D. Dyment, N. Esber, J. Fahrner, M. Fleming, D. Genevieve, D. Heron, T. Husson, K. Kernohan, A. Mcneill, L. Menke, G. Merla, P. Prontera, C. Rockman-Greenberg, C. Schwartz, S. Skinner, R. Stevenson, M. Vincent, A. Vitobello, M. Tartaglia, M. Alder, M. Tedder, B. Sadikovic
مصطلحات موضوعية: DNA methylation, clinical diagnostic, episignature, neurodevelopmental syndrome, Settore MED/03 - Genetica Medica
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35904121; info:eu-repo/semantics/altIdentifier/wos/WOS:000842416800001; volume:43; issue:11; firstpage:1609; lastpage:1628; numberofpages:20; journal:HUMAN MUTATION; https://hdl.handle.net/2434/991312Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85136511967
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9دورية أكاديمية
المؤلفون: van den Wijngaard, A, Volders, P, Tintelen, JP, Jongbloed, JDH, Lambregtse - van den Berg, Mijke, Deprez, RHL, Mannens, MMAM, Hofmann, N, van Slegtenhorst, M, Dooijes, D, Michels, Michelle, Arens, Y, Jongbloed, R, Smeets, BJM
المصدر: van den Wijngaard , A , Volders , P , Tintelen , JP , Jongbloed , JDH , Lambregtse - van den Berg , M , Deprez , RHL , Mannens , MMAM , Hofmann , N , van Slegtenhorst , M , Dooijes , D , Michels , M , Arens , Y , Jongbloed , R & Smeets , BJM 2011 , ' Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy ' , Netherlands Heart Journal , vol. 19 , no. ....
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1007/s12471-011-0135-zTest
https://pure.eur.nl/en/publications/4f3450dd-9335-48e6-8612-3b8fef857d68Test
https://pure.eur.nl/ws/files/47184166/fulltext.pdfTest
http://hdl.handle.net/1765/34444Test -
10دورية أكاديمية
المؤلفون: Joustra, SD, Schoenmakers, N, Persani, L, Campi, I, Bonomi, M, Radetti, G, Beck-Peccoz, P, Zhu, H, Davis, TME, Sun, Y, Corssmit, EP, Appelman-Dijkstra, NM, Heinen, CA, Pereira, AM, Varewijck, Aimee, Janssen, J.A.M.J.L., Endert, E, Hennekam, RC, Lombardi, MP, Mannens, MMAM, Bak, B, Bernard, DJ, Breuning, MH, Chatterjee, K, Dattani, MT, oostdijk, W, Biermasz, NR, Wit, JM, van Trotsenburg, ASP
المصدر: Joustra , SD , Schoenmakers , N , Persani , L , Campi , I , Bonomi , M , Radetti , G , Beck-Peccoz , P , Zhu , H , Davis , TME , Sun , Y , Corssmit , EP , Appelman-Dijkstra , NM , Heinen , CA , Pereira , AM , Varewijck , A , Janssen , J A M J L , Endert , E , Hennekam , RC , Lombardi , MP , Mannens , MMAM , Bak , B , Bernard , DJ , Breuning , MH , Chatterjee , K ....
الإتاحة: https://doi.org/10.1210/jc.2013-2743Test
https://pure.eur.nl/en/publications/51ed2254-11a0-4202-8c57-63351e3c7191Test
http://hdl.handle.net/1765/67249Test
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