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1Academic Journal
المؤلفون: Godfrey, M, Levy, M, Leonardi, E, Campbell, C, Demain, L, Jenkinson, S, Hilton, S, Castillo, BA, Balasubramanian, M, Bijlsma, EK, Burkitt-Wright, E, Cappuccio, G, Chandler, K, Devriendt, K, Haanpää, M, Hörnig, C, Jones, EA, Kocagil, S, Koillinen, H, Narayanan, DL, Madhu, R, Majethia, P, Murgia, A, Rosser, E, Schülke-Gerstenfeld, M, Shukla, A, Soengas-Gonda, E, Sznajer, Y, Venancio, MM, Wright, T, Gokhale, D, Sadikovic, B, Houge, SD, Banka, S
المصدر: Godfrey , M , Levy , M , Leonardi , E , Campbell , C , Demain , L , Jenkinson , S , Hilton , S , Castillo , BA , Balasubramanian , M , Bijlsma , EK , Burkitt-Wright , E , Cappuccio , G , Chandler , K , Devriendt , K , Haanpää , M , Hörnig , C , Jones , EA , Kocagil , S , Koillinen , H , Narayanan , DL , Madhu , R , Majethia , P , Murgia , A , Rosser , E , Schülke-Gerstenfeld , M ....
الاتاحة: https://research.manchester.ac.uk/en/publications/811c4cc3-0812-4531-9327-340b6cfde870
https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=pure_starter&SrcAuth=WosAPI&KeyUT=WOS:001147414903411&DestLinkType=FullRecord&DestApp=WOS_CPL
https://www.nature.com/articles/s41431-023-01482-x#Sec2009 -
2Academic Journal
المؤلفون: Jia, X., Zhang, S., Tan, S., Du, B., He, M., Qin, H., Chen, J., Duan, X., Luo, J., Chen, F., Ouyang, L., Wang, J., Chen, G., Yu, B., Zhang, G., Zhang, Z., Lyu, Y., Huang, Y., Jiao, J., Chen, J. Y. H., Swoboda, K. J., Agolini, E., Novelli, A., Leoni, C., Zampino, G., Cappuccio, G., Brunetti-Pierri, N., Gerard, B., Ginglinger, E., Richer, J., Mcmillan, H., White-Brown, A., Hoekzema, K., Bernier, R. A., Kurtz-Nelson, E. C., Earl, R. K., Meddens, C., Alders, M., Fuchs, M., Caumes, Roselyne, Brunelle, Perrine, Smol, Thomas, Kuehl, R., Day-Salvatore, D. L., Monaghan, K. G., Morrow, M. M., Eichler, E. E., Hu, Z., Yuan, L., Tan, J., Xia, K., Shen, Y., Guo, H.
المساهمون: Université de Lille, CHU Lille, Laboratoire de Diagnostic Génétique CHU Strasbourg, Les Hôpitaux Universitaires de Strasbourg (HUS), Centre Hospitalier de Mulhouse, site du Hasenrain (Mulhouse), Centre Hospitalier Régional Universitaire CHU Lille CHRU Lille, Pôle de Biologie Pathologie Génétique CHU Lille, Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 RADEME
وصف الملف: application/octet-stream; application/rdf+xml; charset=utf-8; application/pdf
Relation: Science Advances; Sci Adv; http://hdl.handle.net/20.500.12210/84140
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3Academic Journal
المؤلفون: Van Haute, L, O'Connor, E, Díaz-Maldonado, H, Munro, B, Polavarapu, K, Hock, DH, Arunachal, G, Athanasiou-Fragkouli, A, Bardhan, M, Barth, M, Bonneau, D, Brunetti-Pierri, N, Cappuccio, G, Caruana, NJ, Dominik, N, Goel, H, Helman, G, Houlden, H, Lenaers, G, Mention, K, Murphy, D, Nandeesh, B, Olimpio, C, Powell, CA, Preethish-Kumar, V, Procaccio, V, Rius, R, Rebelo-Guiomar, P, Simons, C, Vengalil, S, Zaki, MS, Ziegler, A, Thorburn, DR, Stroud, DA, Maroofian, R, Christodoulou, J, Gustafsson, C, Nalini, A, Lochmüller, H, Minczuk, M, Horvath, R
Relation: NHMRC/1140851; NHMRC/1140906; pii: 10.1038/s41467-023-36277-7; Van Haute, L., O'Connor, E., Díaz-Maldonado, H., Munro, B., Polavarapu, K., Hock, D. H., Arunachal, G., Athanasiou-Fragkouli, A., Bardhan, M., Barth, M., Bonneau, D., Brunetti-Pierri, N., Cappuccio, G., Caruana, N. J., Dominik, N., Goel, H., Helman, G., Houlden, H., Lenaers, G. ,. Horvath, R. (2023). TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease. Nat Commun, 14 (1), pp.1009-. https://doi.org/10.1038/s41467-023-36277-7.; http://hdl.handle.net/11343/327342
الاتاحة: http://hdl.handle.net/11343/327342
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4Academic Journal
المؤلفون: Levy M. A., 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 B. R., Elting M. W., Faivre L., Fee T., Ferilli M., Fletcher R. S., Cherick 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., Ostergaard E., Pallares N. R., Piccione M., Plomp A. S., Poulton C., Reilly J., Rius R., Robertson S., Rooney K., Rousseau J., Santen G. W. E., Santos-Simarro F., Schijns J., Squeo G. M., John M. S., Thauvin-Robinet C., Traficante G., van der Sluijs P. J., Vergano S. A., Vos N., Walden K. K., Azmanov D., Balci T. B., 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., Campion D., Christodoulou J., Dyment D., Esber N., Fahrner J. A., Fleming M. D., Genevieve D., Heron D., Husson T., Kernohan K. D., McNeill A., Menke L. A., Merla G., Prontera P., Rockman-Greenberg C., Schwartz C., Skinner S. A., Stevenson R. E., Vincent M., Vitobello A., Tartaglia M., Alders M., Tedder M. L., Sadikovic B.
المساهمون: Levy M.A., 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 B.R., Elting M.W., Faivre L., Fee T., Ferilli M., Fletcher R.S., Cherick 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., Ostergaard E., Pallares N.R., Piccione M., Plomp A.S., Poulton C., Reilly J., Rius R., Robertson S., Rooney K., Rousseau J., Santen G.W.E., Santos-Simarro F., Schijns J., Squeo G.M., John M.S., Thauvin-Robinet C., Traficante G., van der Sluijs P.J., Vergano S.A., Vos N., Walden K.K., Azmanov D., Balci T.B., 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., Campion D., Christodoulou J., Dyment D., Esber N., Fahrner J.A., Fleming M.D., Genevieve D., Heron D., Husson T., Kernohan K.D., McNeill A., Menke L.A., Merla G., Prontera P., Rockman-Greenberg C., Schwartz C., Skinner S.A., Stevenson R.E., Vincent M., Vitobello A., Tartaglia M., Alders M., Tedder M.L., Sadikovic B.
مصطلحات موضوعية: DNA methylation, clinical diagnostics, episignatures, neurodevelopmental syndromes
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/10447/579330
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5Academic Journal
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
Relation: 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/10447/620282
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6Academic Journal
المؤلفون: Wang, TY, Hoekzema, K, Vecchio, D, Wu, HD, Sulovari, A, Coe, BP, Gillentine, MA, Wilfert, AB, Perez-Jurado, LA, Kvarnung, M, Sleyp, Y, Earl, RK, Rosenfeld, JA, Geisheker, MR, Han, L, Du, B, Barnett, C, Thompson, E, Shaw, M, Carroll, R, Friend, K, Catford, R, Palmer, EE, Zou, XB, Ou, JJ, Li, HH, Guo, H, Gerdts, J, Avola, E, Calabrese, G, Elia, M, Greco, D, Lindstrand, A, Nordgren, A, Anderlid, BM, Vandeweyer, G, Van Dijck, A, Van der Aa, N, McKenna, B, Hancarova, M, Bendova, S, Havlovicova, M, Malerba, G, Bernardina, BD, Muglia, P, van Haeringen, A, Hoffer, MJV, Franke, B, Cappuccio, G, Delatycki, M, Lockhart, PJ, Manning, MA, Liu, PF, Scheffer, IE, Brunetti-Pierri, N, Rommelse, N, Amaral, DG, Santen, GWE, Trabetti, E, Sedlacek, Z, Michaelson, JJ, Pierce, K, Courchesne, E, Kooy, RF, Nordenskjold, M, Romano, C, Peeters, H, Bernier, RA, Gecz, J, Xia, K, Eichler, EE
المصدر: Nature communications. 11(1):5398
مصطلحات موضوعية: Medicin och hälsovetenskap
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7Academic Journal
المؤلفون: Wang, T, Hoekzema, K, Vecchio, D, Wu, HD, Sulovari, A, Coe, BP, Gillentine, MA, Wilfert, AB, Perez-Jurado, LA, Kvarnung, M, Sleyp, Y, Earl, RK, Rosenfeld, JA, Geisheker, MR, Han, L, Du, B, Barnett, C, Thompson, E, Shaw, M, Carroll, R, Friend, K, Catford, R, Palmer, EE, Zou, XB, Ou, JJ, Li, HH, Guo, H, Gerdts, J, Avola, E, Calabrese, G, Elia, M, Greco, D, Lindstrand, A, Nordgren, A, Anderlid, BM, Vandeweyer, G, Van Dijck, A, Van der Aa, N, McKenna, B, Hancarova, M, Bendova, S, Havlovicova, M, Malerba, G, Dalla Bernardina, B, Muglia, P, van Haeringen, A, Hoffer, MJV, Franke, B, Cappuccio, G, Delatycki, M, Lockhart, PJ, Manning, MA, Liu, PF, Scheffer, IE, Brunetti-Pierri, N, Rommelse, N, Amaral, DG, Santen, GWE, Trabetti, E, Sedlacek, Z, Michaelson, JJ, Pierce, K, Courchesne, E, Kooy, RF, Nordenskjold, M, Romano, C, Peeters, H, Bernier, RA, Gecz, J, Xia, K, Eichler, EE
المصدر: Nature communications. 11(1):4932
مصطلحات موضوعية: Medicin och hälsovetenskap
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8Academic Journal
المؤلفون: Srivastava, AK, Wang, Y, Huang, R, Skinner, C, Thompson, T, Pollard, L, Wood, T, Luo, F, Stevenson, R, Polimanti, R, Gelernter, J, Lin, X, Lim, IY, Wu, Y, Teh, AL, Chen, L, Aris, IM, Soh, SE, Tint, MT, MacIsaac, JL, Yap, F, Kwek, K, Saw, SM, Kobor, MS, Meaney, MJ, Godfrey, KM, Chong, YS, Holbrook, JD, Lee, YS, Gluckman, PD, Karnani, N, GUSTO study group, Kapoor, A, Lee, D, Chakravarti, A, Maercker, C, Graf, F, Boutros, M, Stamoulis, G, Santoni, F, Makrythanasis, P, Letourneau, A, Guipponi, M, Panousis, N, Garieri, M, Ribaux, P, Falconnet, E, Borel, C, Antonarakis, SE, Kumar, S, Curran, J, Blangero, J, Chatterjee, S, Akiyama, J, Auer, D, Berrios, C, Pennacchio, L, Donti, TR, Cappuccio, G, Miller, M, Atwal, P, Kennedy, A, Cardon, A, Bacino, C, Emrick, L, Hertecant, J, Baumer, F, Porter, B, Bainbridge, M, Bonnen, P, Graham, B, Sutton, R, Sun, Q, Elsea, S, Hu, Z, Wang, P, Zhu, Y, Zhao, J, Xiong, M, Bennett, David A, Hidalgo-Miranda, A, Romero-Cordoba, S, Rodriguez-Cuevas, S, Rebollar-Vega, R, Tagliabue, E, Iorio, M, D’Ippolito, E, Baroni, S, Kaczkowski, B, Tanaka, Y, Kawaji, H, Sandelin, A, Andersson, R, Itoh, M, Lassmann, T, The FANTOM5 Consortium, Hayashizaki, Y, Carninci, P
المصدر: Human Genomics. 10(Suppl 1)
مصطلحات موضوعية: Cancer, Biotechnology, Rare Diseases, Human Genome, Clinical Research, Prevention, Genetics, 2.1 Biological and endogenous factors, Aetiology, Genetics & Heredity
وصف الملف: application/pdf
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9Electronic Resource
المؤلفون: LaFlamme, CW, Rastin, C, Sengupta, S, Pennington, HE, Russ-Hall, SJ, Schneider, AL, Bonkowski, ES, Almanza Fuerte, EP, Allan, TJ, Zalusky, MP-G, Goffena, J, Gibson, SB, Nyaga, DM, Lieffering, N, Hebbar, M, Walker, EV, Darnell, D, Olsen, SR, Kolekar, P, Djekidel, MN, Rosikiewicz, W, McConkey, H, Kerkhof, J, Levy, MA, Relator, R, Lev, D, Lerman-Sagie, T, Park, KL, Alders, M, Cappuccio, G, Chatron, N, Demain, L, Genevieve, D, Lesca, G, Roscioli, T, Sanlaville, D, Tedder, ML, Gupta, S, Jones, EA, Weisz-Hubshman, M, Ketkar, S, Dai, H, Worley, KC, Rosenfeld, JA, Chao, H-T, Undiagnosed Diseases Network, Neale, G, Carvill, GL, University of Washington Center for Rare Disease Research, Wang, Z, Berkovic, SF, Sadleir, LG, Miller, DE, Scheffer, IE, Sadikovic, B, Mefford, HC
مصطلحات الفهرس: Journal Article
URL:
http://hdl.handle.net/11343/350134
NHMRC/1172897
NHMRC/2006841
NHMRC/2010562 -
10Academic Journal
المؤلفون: Jia, X., Zhang, S., Tan, S., Du, B., He, M., Qin, H., Chen, J., Duan, X., Luo, J., Chen, F., Ouyang, L., Wang, J., Chen, G., Yu, B., Zhang, G., Zhang, Z., Lyu, Y., Huang, Y., Jiao, J., Chen, J. Y. H., Swoboda, K. J., Agolini, E., Novelli, A., Leoni, C., Zampino, G., Cappuccio, G., Brunetti-Pierri, N., Gerard, B., Ginglinger, E., Richer, J., Mcmillan, H., White-Brown, A., Hoekzema, K., Bernier, R. A., Kurtz-Nelson, E. C., Earl, R. K., Meddens, C., Alders, M., Fuchs, M., Caumes, Roselyne, Brunelle, Perrine, Smol, Thomas, Kuehl, R., Day-Salvatore, D. L., Monaghan, K. G., Morrow, M. M., Eichler, E. E., Hu, Z., Yuan, L., Tan, J., Xia, K., Shen, Y., Guo, H.
المساهمون: Laboratoire de Diagnostic Génétique CHU Strasbourg, Université de Strasbourg (UNISTRA)-Centre Hospitalier Universitaire Strasbourg (CHU Strasbourg), Les Hôpitaux Universitaires de Strasbourg (HUS)-Les Hôpitaux Universitaires de Strasbourg (HUS), Les Hôpitaux Universitaires de Strasbourg (HUS), Centre Hospitalier de Mulhouse, site du Hasenrain (Mulhouse), Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Pôle de Biologie Pathologie Génétique CHU Lille, Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 (RADEME), Université de Lille-Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille)
المصدر: ISSN: 2375-2548 ; Science Advances ; https://hal.univ-lille.fr/hal-04470583 ; Science Advances , 2022, Science Advances, 8, pp.eabo7112. ⟨10.1126/sciadv.abo7112⟩.
مصطلحات موضوعية: [SDV]Life Sciences [q-bio]
Relation: info:eu-repo/semantics/altIdentifier/pmid/35977029; hal-04470583; https://hal.univ-lille.fr/hal-04470583; https://hal.univ-lille.fr/hal-04470583/document; https://hal.univ-lille.fr/hal-04470583/file/sciadv.abo7112.pdf; PUBMED: 35977029
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11Academic Journal
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
Relation: 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.2021.100075.; http://hdl.handle.net/11343/305257
الاتاحة: http://hdl.handle.net/11343/305257
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12Academic Journal
المؤلفون: van Geest, FS, Groeneweg, S, van den Akker, ELT, Bacos, I, Barca, D, van den Berg, SAA, Bertini, E, Brunner, D, Brunetti-Pierri, N, Cappa, M, Cappuccio, G, Chatterjee, K, Chesover, AD, Christian, P, Coutant, R, Craiu, D, Crock, P, Dewey, C, Dica, A, Dimitri, P, Dubey, R, Enderli, A, Fairchild, J, Gallichan, J, Garibaldi, LR, George, B, Hackenberg, A, Heinrich, B, Huynh, T, Kłosowska, A, Lawson-Yuen, A, Linder-Lucht, M, Lyons, G, Monti Lora, F, Moran, C, Müller, KE, Paone, L, Paul, PG, Polak, M, Porta, F, Reinauer, C, de Rijke, YB, Seckold, R, Menevşe, TS, Simm, P, Simon, A, Spada, M, Stoupa, A, Szeifert, L, Tonduti, D, van Toor, H, Turan, S, Vanderniet, J, de Waart, M, van der Wal, R, van der Walt, A, van Wermeskerken, A-M, Wierzba, J, Zibordi, F, Zung, A, Peeters, RP, Visser, WE
Relation: pii: 6408637; van Geest, F. S., Groeneweg, S., van den Akker, E. L. T., Bacos, I., Barca, D., van den Berg, S. A. A., Bertini, E., Brunner, D., Brunetti-Pierri, N., Cappa, M., Cappuccio, G., Chatterjee, K., Chesover, A. D., Christian, P., Coutant, R., Craiu, D., Crock, P., Dewey, C., Dica, A. ,. Visser, W. E. (2022). Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study. Journal of Clinical Endocrinology and Metabolism, 107 (3), pp.e1136-e1147. https://doi.org/10.1210/clinem/dgab750.; http://hdl.handle.net/11343/307712
الاتاحة: http://hdl.handle.net/11343/307712
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13Academic Journal
المؤلفون: Taylor, J., Spiller, M., Ranguin, K., Vitobello, A., Philippe, C., Bruel, A., Cappuccio, G., Brunetti‐Pierri, N., Willems, M., Isidor, B., Park, K., Balasubramanian, M.
وصف الملف: text
Relation: https://eprints.whiterose.ac.uk/183978/1/American%20J%20of%20Med%20Genetics%20Pt%20A%20-%202022%20-%20Taylor%20-%20Expanding%20the%20phenotype%20of%20HNRNPU%E2%80%90related%20neurodevelopmental%20disorder.pdf; Taylor, J., Spiller, M., Ranguin, K. et al. (9 more authors) (2022) Expanding the phenotype of HNRNPU-related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature. American Journal of Medical Genetics Part A, 188 (5). pp. 1497-1514. ISSN 1552-4825
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14Academic Journal
المؤلفون: Cappuccio G, Compagno G
المساهمون: Cappuccio G, Compagno G
مصطلحات موضوعية: Riflessività, Neurodidattica, Tecniche Brain-Based, Digital Storytelling, Com-petenza Narrativa, Pensiero Critico, Settore M-PED/04 - Pedagogia Sperimentale, Settore M-PED/03 - Didattica E Pedagogia Speciale
Relation: volume:XIX; issue:1; firstpage:680; lastpage:692; numberofpages:13; journal:FORMAZIONE & INSEGNAMENTO; http://hdl.handle.net/10447/521600
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15Academic Journal
المؤلفون: Cappuccio G, Compagno G
المساهمون: Cappuccio G, Compagno G
مصطلحات موضوعية: Capability Approach, citizenship, DigComp, digital skills, inclusive education, Settore M-PED/04 - Pedagogia Sperimentale, Settore M-PED/03 - Didattica E Pedagogia Speciale
Relation: issue:12(1); firstpage:43; lastpage:51; numberofpages:9; journal:MEDIA EDUCATION; http://hdl.handle.net/10447/521598
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16Academic Journal
المؤلفون: Cappuccio G., Caiazza M., Roca A., Melis D., Iuliano A., Matyas G., Rubino M., Limongelli G., Brunetti-Pierri N.
المساهمون: Cappuccio, G., Caiazza, M., Roca, A., Melis, D., Iuliano, A., Matyas, G., Rubino, M., Limongelli, G., Brunetti-Pierri, N.
مصطلحات موضوعية: losartan, Myhre syndrome, SMAD4, systemic sclerosi, TGF-beta, Adolescent, Adult, Angiotensin II Type 1 Receptor Blocker, Child, Preschool, Cryptorchidism, Facie, Female, Follow-Up Studie, Growth Disorder, Hand Deformities, Congenital, Human, Intellectual Disability, Male, Pilot Project, Prognosi, Young Adult
Relation: volume:185; issue:3; firstpage:702; lastpage:709; numberofpages:8; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; https://hdl.handle.net/11563/153057; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85099504377
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17Electronic Resource
المؤلفون: Saettini, F, Guerra, F, Fazio, G, Bugarin, C, Mcmillan, H, Ohtake, A, Ardissone, A, Itoh, M, Giglio, S, Cappuccio, G, Giardino, G, Romano, R, Quadri, M, Gasperini, S, Moratto, D, Chiarini, M, Akira, I, Fukuhara, Y, Hayakawa, I, Okazaki, Y, Mauri, M, Piazza, R, Cazzaniga, G, Biondi, A, Saettini F., Guerra F., Fazio G., Bugarin C., McMillan H. J., Ohtake A., Ardissone A., Itoh M., Giglio S., Cappuccio G., Giardino G., Romano R., Quadri M., Gasperini S., Moratto D., Chiarini M., Akira I., Fukuhara Y., Hayakawa I., Okazaki Y., Mauri M., Piazza R., Cazzaniga G., Biondi A.
مصطلحات الفهرس: Aminoacyl-tRNA synthetase, Hypogammaglobulinemia, Immunodeficiency, Inborn errors of immunity, KARS, KARS-related disease, KARS1, MED/15 - MALATTIE DEL SANGUE, info:eu-repo/semantics/article
URL:
https://hdl.handle.net/10281/470963
info:eu-repo/semantics/altIdentifier/pmid/37770806
info:eu-repo/semantics/altIdentifier/wos/WOS:001076806500003
volume:43
issue:8
firstpage:2115
lastpage:2125
numberofpages:11
journal:JOURNAL OF CLINICAL IMMUNOLOGY -
18Electronic Resource
المؤلفون: Saettini F., Saettini, F, Guerra, F, Fazio, G, Bugarin, C, Mcmillan, H, Ohtake, A, Ardissone, A, Itoh, M, Giglio, S, Cappuccio, G, Giardino, G, Romano, R, Quadri, M, Gasperini, S, Moratto, D, Chiarini, M, Ishiguro, A, Fukuhara, Y, Hayakawa, I, Okazaki, Y, Mauri, M, Piazza, R, Cazzaniga, G, Biondi, A, Saettini F., Guerra F., Fazio G., Bugarin C., McMillan H. J., Ohtake A., Ardissone A., Itoh M., Giglio S., Cappuccio G., Giardino G., Romano R., Quadri M., Gasperini S., Moratto D., Chiarini M., Ishiguro A., Fukuhara Y., Hayakawa I., Okazaki Y., Mauri M., Piazza R., Cazzaniga G., Biondi A.
مصطلحات الفهرس: Erratum, Correction, Corrigendum, info:eu-repo/semantics/other
URL: info:eu-repo/semantics/altIdentifier/wos/WOS:001098558500001
volume:43
firstpage:2126 -
19Report
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20Book
المؤلفون: Ferrara G., Cappuccio G.
المساهمون: Ferrara G., Cappuccio G.
مصطلحات موضوعية: laboratory, Storytelling, reflective learning, research, narrative competence, Settore M-PED/03 - Didattica E Pedagogia Speciale
Relation: info:eu-repo/semantics/altIdentifier/isbn/978-84-09-14755-7; ispartofbook:ICERI2019 proceedings, International Academy of Technology, Education and Development; ICERI2019 proceedings, International Academy of Technology, Education and Development; numberofpages:11; serie:ICERI PROCEEDINGS; http://hdl.handle.net/10447/544019
الاتاحة: http://hdl.handle.net/10447/544019