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1دورية أكاديمية
المؤلفون: Gillentine, M. A., Wang, T., Hoekzema, K., Rosenfeld, J., Liu, P., Guo, H., Kim, C. N., De Vries, B. B. A., Vissers, L. E. L. M., Nordenskjold, M., Kvarnung, M., Lindstrand, A., Nordgren, A., Gecz, J., Iascone, M., Cereda, A., Scatigno, A., Maitz, S., Zanni, G., Bertini, E., Zweier, C., Schuhmann, S., Wiesener, A., Pepper, M., Panjwani, H., Torti, E., Abid, F., Anselm, I., Srivastava, S., Atwal, P., Bacino, C. A., Bhat, G., Cobian, K., Bird, L. M., Friedman, J., Wright, M. S., Callewaert, B., Petit, Florence, Mathieu, S., Afenjar, A., Christensen, C. K., White, K. M., Elpeleg, O., Berger, I., Espineli, E. J., Fagerberg, C., Brasch-Andersen, C., Hansen, L. K., Feyma, T., Hughes, S., Thiffault, I., Sullivan, B., Yan, S., Keller, K., Keren, B., Mignot, C., Kooy, F., Meuwissen, M., Basinger, A., Kukolich, M., Philips, M., Ortega, L., Drummond-Borg, M., Lauridsen, M., Sorensen, K., Lehman, A., Lopez-Rangel, E., Levy, P., Lessel, D., Lotze, T., Madan-Khetarpal, S., Sebastian, J., Vento, J., Vats, D., Benman, L. M., Mckee, S., Mirzaa, G. M., Muss, C., Pappas, J., Peeters, H., Romano, C., Elia, M., Galesi, O., Simon, M. E. H., Van Gassen, K. L. I., Simpson, K., Stratton, R., Syed, S., Thevenon, J., Palafoll, I. V., Vitobello, A., Bournez, M., Faivre, L., Xia, K., Earl, R. K., Nowakowski, T., Bernier, R. A., Eichler, E. E.
المساهمون: Université de Lille, CHU Lille, Washington University School of Medicine Saint Louis, MO, Karolinska University Hospital Solna, Sweden KUH, Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364, Centre de Référence Déficiences Intellectuelles de causes rares / Rare Disease Reference Center for Intellectual Disability CHU Robert Debré, AP-HP
مصطلحات موضوعية: Gene families, hnRNPs, Neurodevelopmental disorders, Cortex development
وصف الملف: application/octet-stream; application/rdf+xml; charset=utf-8; application/pdf
العلاقة: Genome Medicine; Genome Med; http://hdl.handle.net/20.500.12210/84177Test
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2دورية أكاديمية
المؤلفون: Gillentine, MA, Wang, TY, Hoekzema, K, Rosenfeld, J, Liu, PF, Guo, H, Kim, CN, De Vries, BBA, Vissers, LELM, Nordenskjold, M, Kvarnung, M, Lindstrand, A, Nordgren, A, Gecz, J, Iascone, M, Cereda, A, Scatigno, A, Maitz, S, Zanni, G, Bertini, E, Zweier, C, Schuhmann, S, Wiesener, A, Pepper, M, Panjwani, H, Torti, E, Abid, F, Anselm, I, Srivastava, S, Atwal, P, Bacino, CA, Bhat, G, Cobian, K, Bird, LM, Friedman, J, Wright, MS, Callewaert, B, Petit, F, Mathieu, S, Afenjar, A, Christensen, CK, White, KM, Elpeleg, O, Berger, I, Espineli, EJ, Fagerberg, C, Brasch-Andersen, C, Hansen, LK, Feyma, T, Hughes, S, Thiffault, I, Sullivan, B, Yan, S, Keller, K, Keren, B, Mignot, C, Kooy, F, Meuwissen, M, Basinger, A, Kukolich, M, Philips, M, Ortega, L, Drummond-Borg, M, Lauridsen, M, Sorensen, K, Lehman, A, Lopez-Rangel, E, Levy, P, Lessel, D, Lotze, T, Madan-Khetarpal, S, Sebastian, J, Vento, J, Vats, D, Benman, LM, Mckee, S, Mirzaa, GM, Muss, C, Pappas, J, Peeters, H, Romano, C, Elia, M, Galesi, O, Simon, MEH, van Gassen, KLI, Simpson, K, Stratton, R, Syed, S, Thevenon, J, Palafoll, IV, Vitobello, A, Bournez, M, Faivre, L, Xia, K, Earl, RK, Nowakowski, T, Bernier, RA, Eichler, EE
المصدر: Genome medicine. 13(1):63
مصطلحات موضوعية: Medicin och hälsovetenskap
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3دورية أكاديمية
المؤلفون: Foroutan A., Haghshenas S., Bhai P., Levy M. A., Kerkhof J., McConkey H., Niceta M., Ciolfi A., Pedace L., Miele E., Genevieve D., Heide S., Alders M., Zampino G., Merla G., Fradin M., Bieth E., Bonneau D., Dieterich K., Fergelot P., Schaefer E., Faivre L., Vitobello A., Maitz S., Fischetto R., Gervasini C., Piccione M., van de Laar I., Tartaglia M., Sadikovic B., Lebre A. -S.
المساهمون: Foroutan A., Haghshenas S., Bhai P., Levy M.A., Kerkhof J., McConkey H., Niceta M., Ciolfi A., Pedace L., Miele E., Genevieve D., Heide S., Alders M., Zampino G., Merla G., Fradin M., Bieth E., Bonneau D., Dieterich K., Fergelot P., Schaefer E., Faivre L., Vitobello A., Maitz S., Fischetto R., Gervasini C., Piccione M., van de Laar I., Tartaglia M., Sadikovic B., Lebre A.-S.
مصطلحات موضوعية: Abnormalities, Multiple, Craniofacial Abnormalitie, DNA methylation, Epigenetic, Episignature, Facie, Growth Disorder, Human, Hypertrichosi, Intellectual disability, KMT2A gene, Neurodevelopmental disorder, Phenotype, Wiedemann–Steiner syndrome
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35163737; info:eu-repo/semantics/altIdentifier/wos/WOS:000759997000001; volume:23; issue:3; numberofpages:17; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; http://hdl.handle.net/10447/547094Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85123938038
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4دورية أكاديمية
المؤلفون: Levy M. A., McConkey H., Kerkhof J., Barat-Houari M., Bargiacchi S., Biamino E., Bralo M. P., Cappuccio G., Ciolfi A., Clarke A., DuPont B. R., Elting M. W., Faivre L., Fee T., Fletcher R. S., Cherik F., Foroutan A., Friez M. J., Gervasini C., Haghshenas S., Hilton B. A., Jenkins Z., Kaur S., Lewis S., Louie R. J., Maitz S., Milani D., Morgan A. T., Oegema R., Østergaard E., Pallares N. R., Piccione M., Pizzi S., Plomp A. S., Poulton C., Reilly J., Relator R., Rius R., Robertson S., Rooney K., Rousseau J., Santen G. W. E., Santos-Simarro F., Schijns J., Squeo G. M., St John M., Thauvin-Robinet C., Traficante G., van der Sluijs P. J., Vergano S. A., Vos N., Walden K. K., Azmanov D., Balci T., Banka S., Gecz J., Henneman P., Lee J. A., Mannens M. M. A. M., Roscioli T., Siu V., Amor D. J., Baynam G., Bend E. G., Boycott K., Brunetti-Pierri N., Campeau P. M., Christodoulou J., Dyment D., Esber N., Fahrner J. A., Fleming M. D., Genevieve D., Kerrnohan K. D., McNeill A., Menke L. A., Merla G., Prontera P., Rockman-Greenberg C., Schwartz C., Skinner S. A., Stevenson R. E., Vitobello A., Tartaglia M., Alders M., Tedder M. L., Sadikovic B.
المساهمون: Levy M.A., McConkey H., Kerkhof J., Barat-Houari M., Bargiacchi S., Biamino E., Bralo M.P., Cappuccio G., Ciolfi A., Clarke A., DuPont B.R., Elting M.W., Faivre L., Fee T., Fletcher R.S., Cherik F., Foroutan A., Friez M.J., Gervasini C., Haghshenas S., Hilton B.A., Jenkins Z., Kaur S., Lewis S., Louie R.J., Maitz S., Milani D., Morgan A.T., Oegema R., Østergaard E., Pallares N.R., Piccione M., Pizzi S., Plomp A.S., Poulton C., Reilly J., Relator R., Rius R., Robertson S., Rooney K., Rousseau J., Santen G.W.E., Santos-Simarro F., Schijns J., Squeo G.M., St John M., Thauvin-Robinet C., Traficante G., van der Sluijs P.J., Vergano S.A., Vos N., Walden K.K., Azmanov D., Balci T., Banka S., Gecz J., Henneman P., Lee J.A., Mannens M.M.A.M., Roscioli T., Siu V., Amor D.J., Baynam G., Bend E.G., Boycott K., Brunetti-Pierri N., Campeau P.M., Christodoulou J., Dyment D., Esber N., Fahrner J.A., Fleming M.D., Genevieve D., Kerrnohan K.D., McNeill A., Menke L.A., Merla G., Prontera P., Rockman-Greenberg C., Schwartz C., Skinner S.A., Stevenson R.E., Vitobello A., Tartaglia M., Alders M., Tedder M.L., Sadikovic B.
مصطلحات موضوعية: Clinical diagnostics, DNA methylation, Epigenetics, Episignatures, Neurodevelopmental disorders
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35047860; info:eu-repo/semantics/altIdentifier/wos/WOS:000787652900021; volume:3; issue:1; firstpage:100075; numberofpages:18; journal:HGG ADVANCES; https://hdl.handle.net/10447/620282Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85128406827
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5دورية أكاديمية
المؤلفون: Recalcati M. P., Catusi I., Garzo M., Redaelli S., Massimello M., Maitz S. B., Gentile M., Ponzi E., Orsini P., Zilio A., Montaldi A., Calo A., Capra A. P., Briuglia S., La Rosa M. A., Grillo L., Romano C., Bianca S., Malacarne M., Buse M., Piccione M., Larizza L.
المساهمون: Recalcati M.P., Catusi I., Garzo M., Redaelli S., Massimello M., Maitz S.B., Gentile M., Ponzi E., Orsini P., Zilio A., Montaldi A., Calo A., Capra A.P., Briuglia S., La Rosa M.A., Grillo L., Romano C., Bianca S., Malacarne M., Buse M., Piccione M., Larizza L.
مصطلحات موضوعية: 12q21 deletion, array-CGH, congenital anomalies, copy number variants (CNVs), developmental delay/intellectual disability (DD/ID), dysmorphisms, genetic counseling, loss of function, patient management, variation intolerant genes, Settore MED/03 - Genetica Medica
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35627165; info:eu-repo/semantics/altIdentifier/wos/WOS:000802446100001; volume:13; issue:5; firstpage:780; numberofpages:12; journal:GENES; https://hdl.handle.net/10447/579212Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85129732267
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6دورية أكاديمية
المؤلفون: Levy, MA, McConkey, H, Kerkhof, J, Barat-Houari, M, Bargiacchi, S, Biamino, E, 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, Ostergaard, 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
العلاقة: pii: S2666-2477(21)00056-7; Levy, M. A., McConkey, H., Kerkhof, J., Barat-Houari, M., Bargiacchi, S., Biamino, E., Cappuccio, G., Ciolfi, A., Clarke, A., DuPont, B. R., Elting, M. W., Faivre, L., Fee, T., Fletcher, R. S., Cherik, F., Foroutan, A., Friez, M. J., Gervasini, C., Haghshenas, S. ,. Sadikovic, B. (2022). Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders. HUMAN GENETICS AND GENOMICS ADVANCES, 3 (1), https://doi.org/10.1016/j.xhgg.2021.100075Test.; http://hdl.handle.net/11343/305257Test
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7دورية أكاديمية
المؤلفون: Cattoni A., Spano A., Tulone A., Boneschi A., Masera N., Maitz S., Di Blasio A. M., Persani L., Guizzardi F., Rossetti R.
المساهمون: Cattoni, A, Spano, A, Tulone, A, Boneschi, A, Masera, N, Maitz, S, Di Blasio, A, Persani, L, Guizzardi, F, Rossetti, R
مصطلحات موضوعية: antimullerian hormone (AMH), fertility, FIGLA gene, gene variant, gonadal dysgenesis (GD), NOBOX gene, NR5A1 gene, primary ovarian insufficiency (POI)
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33101191; info:eu-repo/semantics/altIdentifier/wos/WOS:000576235800001; volume:11; journal:FRONTIERS IN ENDOCRINOLOGY; http://hdl.handle.net/10281/295465Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85092319245
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8دورية أكاديمية
المؤلفون: Fontana L., Tabano S., Maitz S., Colapietro P., Garzia E., Gerli A. G., Sirchia S. M., Miozzo M.
المساهمون: L. Fontana, S. Tabano, S. Maitz, P. Colapietro, E. Garzia, A.G. Gerli, S.M. Sirchia, M. Miozzo
مصطلحات موضوعية: Beckwith-Wiedemann syndrome, Clinical diagnosi, Discordant monozygotic twin, Molecular testing, Multilocus imprinting disturbance, X-chromosome inactivation, Settore MED/03 - Genetica Medica
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33810554; info:eu-repo/semantics/altIdentifier/wos/WOS:000638646600001; volume:22; issue:7; firstpage:1; lastpage:20; numberofpages:20; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; http://hdl.handle.net/2434/851677Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85103053768
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9دورية أكاديمية
المؤلفون: Amenta, S., Marangi, G., Orteschi, D., Frangella, S., Gurrieri, F., Paccagnella, E., Torella, A., Cappuccio, G., Musacchia, F., Mutarelli, M., Carrella, D., Vitiello, G., Parenti, G., Leuzzi, V., Selicorni, A., Maitz, S., Brunetti-Pierri, N., Banfi, S., Montomoli, M., Milani, D., Romano, C., Tummolo, A., De Brasi, D., Coppola, A., Santoro, C., Scala, M., Romano, F., Capra, V., Nigro, V., Zollino, M.
المساهمون: Amenta, S., Marangi, G., Orteschi, D., Frangella, S., Gurrieri, F., Paccagnella, E., Torella, A., Cappuccio, G., Musacchia, F., Mutarelli, M., Carrella, D., Vitiello, G., Parenti, G., Leuzzi, V., Selicorni, A., Maitz, S., Brunetti-Pierri, N., Banfi, S., Montomoli, M., Milani, D., Romano, C., Tummolo, A., De Brasi, D., Coppola, A., Santoro, C., Scala, M., Romano, F., Capra, V., Nigro, V., Zollino, M.
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36797464; info:eu-repo/semantics/altIdentifier/wos/WOS:000939855800002; volume:31; firstpage:648; lastpage:653; numberofpages:6; journal:EUROPEAN JOURNAL OF HUMAN GENETICS; https://hdl.handle.net/11567/1119309Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85148354032
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10دورية أكاديمية
المؤلفون: Rovina D., La Vecchia M., Cortesi A., Fontana L., Pesant M., Maitz S., Tabano S., Bodega B., Miozzo M., Sirchia S. M.
المساهمون: D. Rovina, M. La Vecchia, A. Cortesi, L. Fontana, M. Pesant, S. Maitz, S. Tabano, B. Bodega, M. Miozzo, S.M. Sirchia
مصطلحات موضوعية: Settore MED/03 - Genetica Medica
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32427849; info:eu-repo/semantics/altIdentifier/wos/WOS:000540568100068; volume:10; issue:1; journal:SCIENTIFIC REPORTS; http://hdl.handle.net/2434/738695Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85084964861