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1Academic Journal
المؤلفون: Alves, CAPF, Sherbini, O, D'Arco, F, Steel, D, Kurian, MA, Radio, FC, Ferrero, GB, Carli, D, Tartaglia, M, Balci, TB, Powell-Hamilton, NN, Schrier Vergano, SA, Reutter, H, Hoefele, J, Günthner, R, Roeder, ER, Littlejohn, RO, Lessel, D, Lüttgen, S, Kentros, C, Anyane-Yeboa, K, Catarino, CB, Mercimek-Andrews, S, Denecke, J, Lyons, MJ, Klopstock, T, Bhoj, EJ, Bryant, L, Vanderver, A
المصدر: American Journal of Neuroradiology , 43 (7) pp. 1048-1053. (2022)
مصطلحات موضوعية: Brain, Brain Neoplasms, Child, Germ Cells, Humans, Male, Malformations of Cortical Development, Neurodevelopmental Disorders, Retrospective Studies
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/10153679/1/AJNR-22-00175.R1_Proof_hi.pdf; https://discovery.ucl.ac.uk/id/eprint/10153679/
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2Academic Journal
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
Relation: 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/2434/991312; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85136511967
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3Academic Journal
المؤلفون: Chowdhury, F, Wang, L, Al-Raqad, M, Amor, DJ, Baxova, A, Bendova, S, Biamino, E, Brusco, A, Caluseriu, O, Cox, NJ, Froukh, T, Gunay-Aygun, M, Hancarova, M, Haynes, D, Heide, S, Hoganson, G, Kaname, T, Keren, B, Kosaki, K, Kubota, K, Lemons, JM, Magrina, MA, Mark, PR, McDonald, MT, Montgomery, S, Morley, GM, Ohnishi, H, Okamoto, N, Rodriguez-Buritica, D, Rump, P, Sedlacek, Z, Schatz, K, Streff, H, Uehara, T, Walia, JS, Wheeler, PG, Wiesener, A, Zweier, C, Kawakami, K, Wentzensen, IM, Lalani, SR, Siu, VM, Bi, W, Balci, TB
Relation: pii: S1098-3600(21)05035-8; Chowdhury, F., Wang, L., Al-Raqad, M., Amor, D. J., Baxova, A., Bendova, S., Biamino, E., Brusco, A., Caluseriu, O., Cox, N. J., Froukh, T., Gunay-Aygun, M., Hancarova, M., Haynes, D., Heide, S., Hoganson, G., Kaname, T., Keren, B., Kosaki, K. ,. Balci, T. B. (2021). Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities. GENETICS IN MEDICINE, 23 (7), pp.1234-1245. https://doi.org/10.1038/s41436-021-01129-6.; http://hdl.handle.net/11343/309565
الاتاحة: http://hdl.handle.net/11343/309565
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