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1دورية أكاديمية
المؤلفون: E.K. Bancroft, E.C. Page, E. Castro, H. Lilja, A. Vickers, D. Sjoberg, M. Assel, C.S. Foster, G. Mitchell, K. Drew, L. Maehle, K. Axcrona, D.G. Evans, B. Bulman, D. Eccles, D. McBride, C. van Asperen, H. Vasen, L.A. Kiemeney, J. Ringelberg, C. Cybulski, D. Wokolorczyk, C. Selkirk, P.J. Hulick, A. Bojesen, A.B. Skytte, J. Lam, L. Taylor, R. Oldenburg, R. Cremers, G. Verhaegh, W.A. van Zelst-Stams, J.C. Oosterwijk, I. Blanco, M. Salinas, J. Cook, D.J. Rosario, S. Buys, T. Conner, M.G. Ausems, K.R. Ong, J. Hoffman, S. Domchek, J. Powers, M.R. Teixeira, S. Maia, W.D. Foulkes, N. Taherian, M. Ruijs, A.T. den Enden, L. Izatt, R. Davidson, M.A. Adank, L. Walker, R. Schmutzler, K. Tucker, J. Kirk, S. Hodgson, M. Harris, F. Douglas, G.J. Lindeman, J. Zgajnar, M. Tischkowitz, V.E. Clowes, R. Susman, T. Ramón Y Cajal, N. Patcher, N. Gadea, A. Spigelman, T. van Os, A. Liljegren, L. Side, C. Brewer, A.F. Brady, A. Donaldson, V. Stefansdottir, E. Friedman, R. Chen-Shtoyerman, D.J. Amor, L. Copakova, J. Barwell, V.N. Giri, V. Murthy, N. Nicolai, S.H. Teo, L. Greenhalgh, S. Strom, A. Henderson, J. McGrath, D. Gallagher, N.K. Aaronson, A. Ardern-Jones, C. Bangma, D. Dearnaley, P. Costello, J. Eyfjord, J. Rothwell, A. Falconer, H. Gronberg, F.C. Hamdy, O. Johannsson, V. Khoo, Z. Kote-Jarai, J. Lubinski, U. Axcrona, J. Melia, J. McKinley, A.V. Mitra, C. Moynihan, G. Rennert, M. Suri, P. Wilson, E. Killick, S. Moss, R.A. Eeles
المصدر: European Urology (03022838) vol.66 (2014) nr.3 p.489-499
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المؤلفون: M.A. Aitken, B.J. McClaren, R.J. Massie, D.J. Amor, S.A. Metcalfe
المصدر: Journal of Cystic Fibrosis. 7
مصطلحات موضوعية: Pulmonary and Respiratory Medicine, Newborn screening, Pediatrics, medicine.medical_specialty, business.industry, Grandparent, Pedigree chart, Carrier testing, Dna testing, medicine.disease, Cystic fibrosis, Pediatrics, Perinatology and Child Health, medicine, Diagnostic laboratory, Pediatrics, Perinatology, and Child Health, Family history, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97b04d5d6622c3790d5120ee8511158aTest
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3دورية أكاديمية
المؤلفون: Levy, Michael A, McConkey, Haley, Kerkhof, Jennifer, Barat-Houari, Mouna, Bargiacchi, Sara, Biamino, Elisa, Bralo, María Palomares, Cappuccio, Gerarda, Ciolfi, Andrea, Clarke, Angus, DuPont, Barbara R, Elting, Mariet W, Faivre, Laurence, Fee, Timothy, Fletcher, Robin S, Cherik, Florian, Foroutan, Aidin, Friez, Michael J, Gervasini, Cristina, Haghshenas, Sadegheh, Hilton, Benjamin A, Jenkins, Zandra, Kaur, Simranpreet, Lewis, Suzanne, Louie, Raymond J, Maitz, Silvia, Milani, Donatella, Morgan, Angela T, Oegema, Renske, Østergaard, Elsebet, Pallares, Nathalie Ruiz, Piccione, Maria, Pizzi, Simone, Plomp, Astrid S, Poulton, Cathryn, Reilly, Jack, Relator, Raissa, Rius, Rocio, Robertson, Stephen, Rooney, Kathleen, Rousseau, Justine, Santen, Gijs W E, Santos-Simarro, Fernando, Schijns, Josephine, Squeo, Gabriella Maria, St John, Miya, Thauvin-Robinet, Christel, Traficante, Giovanna, van der Sluijs, Pleuntje J, Vergano, Samantha A, Vos, Niels, Walden, Kellie K, Azmanov, Dimitar, Balci, Tugce, Banka, Siddharth, Gecz, Jozef, Henneman, Peter, Lee, Jennifer A, Mannens, Marcel M A M, Roscioli, Tony, Siu, Victoria, Amor, David J, Baynam, Gareth, Bend, Eric G, Boycott, Kym, Brunetti-Pierri, Nicola, Campeau, Philippe M, Christodoulou, John, Dyment, David, Esber, Natacha, Fahrner, Jill A, Fleming, Mark D, Genevieve, David, Kerrnohan, Kristin D, McNeill, Alisdair, Menke, Leonie A, Merla, Giuseppe, Prontera, Paolo, Rockman-Greenberg, Cheryl, Schwartz, Charles, Skinner, Steven A, Stevenson, Roger E, Vitobello, Antonio, Tartaglia, Marco, Alders, Marielle, Tedder, Matthew L, Sadikovic, Bekim
المساهمون: M.A. Levy, H. Mcconkey, J. Kerkhof, M. Barat-Houari, S. Bargiacchi, E. Biamino, M.P. Bralo, G. Cappuccio, A. Ciolfi, A. Clarke, B.R. Dupont, M.W. Elting, L. Faivre, T. Fee, R.S. Fletcher, F. Cherik, A. Foroutan, M.J. Friez, C. Gervasini, S. Haghshena, B.A. Hilton, Z. Jenkin, S. Kaur, S. Lewi, R.J. Louie, S. Maitz, D. Milani, A.T. Morgan, R. Oegema, E. Østergaard, N.R. Pallare, M. Piccione, S. Pizzi, A.S. Plomp, C. Poulton, J. Reilly, R. Relator, R. Riu, S. Robertson, K. Rooney, J. Rousseau, G.W.E. Santen, F. Santos-Simarro, J. Schijn, G.M. Squeo, M. St John, C. Thauvin-Robinet, G. Traficante, P.J. van der Sluij, S.A. Vergano, N. Vo, K.K. Walden, D. Azmanov, T. Balci, S. Banka, J. Gecz, P. Henneman, J.A. Lee, M.M.A.M. Mannen, T. Roscioli, V. Siu, D.J. Amor, G. Baynam, E.G. Bend, K. Boycott, N. Brunetti-Pierri, P.M. Campeau, J. Christodoulou, D. Dyment, N. Esber, J.A. Fahrner, M.D. Fleming, D. Genevieve, K.D. Kerrnohan, A. Mcneill, L.A. Menke, G. Merla, P. Prontera, C. Rockman-Greenberg, C. Schwartz, S.A. Skinner, R.E. Stevenson, A. Vitobello, M. Tartaglia, M. Alder, M.L. Tedder, B. Sadikovic
مصطلحات موضوعية: Clinical diagnostic, DNA methylation, Epigenetic, Episignature, Neurodevelopmental disorder, Settore MED/03 - Genetica Medica
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35047860; info:eu-repo/semantics/altIdentifier/wos/WOS:000787652900021; volume:3; issue:1; firstpage:1; lastpage:18; numberofpages:18; journal:HGG ADVANCES; http://hdl.handle.net/2434/912301Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85128406827
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4دورية أكاديمية
المؤلفون: Voisin N., Schnur R. E., Douzgou S., Hiatt S. M., Rustad C. F., Brown N. J., Earl D. L., Keren B., Levchenko O., Geuer S., Verheyen S., Johnson D., Zarate Y. A., Hancarova M., Amor D. J., Bebin E. M., Blatterer J., Brusco A., Cappuccio G., Charrow J., Chatron N., Cooper G. M., Courtin T., Dadali E., Delafontaine J., Del Giudice E., Doco M., Douglas G., Eisenkolbl A., Funari T., Giannuzzi G., Gruber-Sedlmayr U., Guex N., Heron D., Holla O. L., Hurst A. C. E., Juusola J., Kronn D., Lavrov A., Lee C., Lorrain S., Merckoll E., Mikhaleva A., Norman J., Pradervand S., Prchalova D., Rhodes L., Sanders V. R., Sedlacek Z., Seebacher H. A., Sellars E. A., Sirchia F., Takenouchi T., Tanaka A. J., Taska-Tench H., Tonne E., Tveten K., Vitiello G., Vlckova M., Uehara T., Nava C., Yalcin B., Kosaki K., Donnai D., Mundlos S., Brunetti-Pierri N., Chung W. K., Reymond A.
المساهمون: N. Voisin, R.E. Schnur, S. Douzgou, S.M. Hiatt, C.F. Rustad, N.J. Brown, D.L. Earl, B. Keren, O. Levchenko, S. Geuer, S. Verheyen, D. Johnson, Y.A. Zarate, M. Hancarova, D.J. Amor, E.M. Bebin, J. Blatterer, A. Brusco, G. Cappuccio, J. Charrow, N. Chatron, G.M. Cooper, T. Courtin, E. Dadali, J. Delafontaine, E. Del Giudice, M. Doco, G. Dougla, A. Eisenkolbl, T. Funari, G. Giannuzzi, U. Gruber-Sedlmayr, N. Guex, D. Heron, O.L. Holla, A.C.E. Hurst, J. Juusola, D. Kronn, A. Lavrov, C. Lee, S. Lorrain, E. Merckoll, A. Mikhaleva, J. Norman, S. Pradervand, D. Prchalova, L. Rhode, V.R. Sander, Z. Sedlacek, H.A. Seebacher, E.A. Sellar, F. Sirchia, T. Takenouchi, A.J. Tanaka, H. Taska-Tench, E. Tonne, K. Tveten, G. Vitiello, M. Vlckova, T. Uehara, C. Nava, B. Yalcin, K. Kosaki, D. Donnai, S. Mundlo, N. Brunetti-Pierri, W.K. Chung, A. Reymond
مصطلحات موضوعية: AFF3, AFF4, horseshoe kidney, intellectual disability, mesomelic dysplasia, Adolescent, Amino Acid Sequence, Animal, Brain Disease, Child, Preschool, Epilepsy, Evolution, Molecular, Female, Fused Kidney, Gene Frequency, Human, Infant, Male, Mice, Models, Nuclear Protein, Osteochondrodysplasia, Phenotype, Protein Stability, Syndrome, Transcriptional Elongation Factor, Young Adult, Zebrafish
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33961779; info:eu-repo/semantics/altIdentifier/wos/WOS:000658896700007; volume:108; issue:5; firstpage:857; lastpage:873; numberofpages:17; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/2434/869663Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85105081668
