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

الإتاحة: https://doi.org/10.1016/j.xhgg.2021.100075Test
https://hdl.handle.net/10447/620282Test

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

الإتاحة: https://doi.org/10.1016/j.xhgg.2021.100075Test
http://hdl.handle.net/11343/305257Test

المؤلفون: Pettinato F., Mostile G., Battini R., Martinelli D., Madeo A., Biamino E., Frattini D., Garozzo D., Gasperini S., Parini R., Sirchia F., Sortino G., Sturiale L., Matthijs G., Morrone A., Di Rocco M., Rizzo R., Jaeken J., Fiumara A., Barone R.

المساهمون: Pettinato, F., Mostile, G., Battini, R., Martinelli, D., Madeo, A., Biamino, E., Frattini, D., Garozzo, D., Gasperini, S., Parini, R., Sirchia, F., Sortino, G., Sturiale, L., Matthijs, G., Morrone, A., Di Rocco, M., Rizzo, R., Jaeken, J., Fiumara, A., Barone, R.

مصطلحات موضوعية: Activities of daily living, Ataxia, Cerebellar atrophy, Congenital disorder(s) of glycosylation, PMM2 variant, Pons atrophy

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33619652; info:eu-repo/semantics/altIdentifier/wos/WOS:000620401900001; volume:20; issue:4; firstpage:596; lastpage:605; numberofpages:10; journal:CEREBELLUM; https://hdl.handle.net/11568/1116716Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85101683015; https://link.springer.com/article/10.1007/s12311-021-01242-xTest

الإتاحة: https://doi.org/10.1007/s12311-021-01242-xTest
https://hdl.handle.net/11568/1116716Test

المؤلفون: Kerkhof J., Squeo G. M., McConkey H., Levy M. A., Piemontese M. R., Castori M., Accadia M., Biamino E., Della Monica M., Di Giacomo M. C., Gervasini C., Maitz S., Melis D., Milani D., Piccione M., Prontera P., Selicorni A., Sadikovic B., Merla G.

المساهمون: Kerkhof, J., Squeo, G. M., Mcconkey, H., Levy, M. A., Piemontese, M. R., Castori, M., Accadia, M., Biamino, E., Della Monica, M., Di Giacomo, M. C., Gervasini, C., Maitz, S., Melis, D., Milani, D., Piccione, M., Prontera, P., Selicorni, A., Sadikovic, B., Merla, G.

مصطلحات موضوعية: Chromatinopathie, DNA methylation, Epigenetic, Genome, Human, Abnormalities, Multiple, Hematologic Disease, Vestibular Diseases

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34906459; info:eu-repo/semantics/altIdentifier/wos/WOS:000819827500006; volume:24; issue:1; firstpage:51; lastpage:60; numberofpages:10; journal:GENETICS IN MEDICINE; http://hdl.handle.net/11386/4803753Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85122344784

الإتاحة: https://doi.org/10.1016/j.gim.2021.08.007Test
http://hdl.handle.net/11386/4803753Test

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

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/10447/579330Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85136511967

الإتاحة: https://doi.org/10.1002/humu.24446Test
https://hdl.handle.net/10447/579330Test

المؤلفون: Makrythanasis, P, van Bon, BW, Steehouwer, M, Rodriguez-Santiago, B, Simpson, M, Dias, P, Anderlid, BM, Arts, P, Bhat, M, Augello, B, Biamino, E, Bongers, EMHF, del Campo, M, Cordeiro, I, Cueto-Gonzalez, A, Cusco, I, Deshpande, C, Frysira, E, Izatt, L, Flores, R, Galan, E, Gener, B, Gilissen, C, Granneman, SM, Hoyer, J, Yntema, HG, Kets, CM, Koolen, DA, Marcelis, CL, Medeira, A, Micale, L, Mohammed, S, de Munnik, SA, Nordgren, A, Psoni, S, Reardon, W, Revencu, N, Roscioli, T, Ruiterkamp-Versteeg, M, Santos, H, Schoumans, J, Schuurs-Hoeijmakers, JHM, Silengo, MC, Toledo, L, Vendrell, T, van der Burgt, I, van Lier, B, Zweier, C, Reymond, A, Trembath, RC, Perez-Jurado, L, Dupont, J, de Vries, BBA, Brunner, HG, Veltman, JA, Merla, G, Antonarakis, SE, Hoischen, A

المصدر: Clinical genetics. 84(6):539-545

مصطلحات موضوعية: Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Neurovetenskaper, Medicinsk genetik

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:128150912Test

المؤلفون: Bayat, A., Valles-Ibanez, G., Pendziwiat, M., Knaus, A., Alt, K., Biamino, E., Bley, A., Calvert, S., Carney, P., Caro-Llopis, A., Ceulemans, B., Cousin, J., Davis, S., Portes, V., Edery, P., England, E., Ferreira, C., Freeman, J., Gener, B., Gorce, M., Heron, D., Hildebrand, M.S., Jezela-Stanek, A., Jouk, P.S., Keren, B., Kloth, K., Kluger, G., Kuhn, M., Lemke, J.R., Li, H., Martinez, F., Maxton, C., Mefford, H.C., Merla, G., Mierzewska, H., Muir, A., Monfort, S., Nicolai, J., Norman, J., O'Grady, G., Oleksy, B., Orellana, C., Orec, L.E., Peinhardt, C., Pronicka, E., Rosello, M., Santos-Simarro, F., Schwaibold, E.M.C., Stegmann, A.P.A., Stumpel, C.T.

المصدر: Bayat , A , Valles-Ibanez , G , Pendziwiat , M , Knaus , A , Alt , K , Biamino , E , Bley , A , Calvert , S , Carney , P , Caro-Llopis , A , Ceulemans , B , Cousin , J , Davis , S , Portes , V , Edery , P , England , E , Ferreira , C , Freeman , J , Gener , B , Gorce , M , Heron , D , Hildebrand , M S , Jezela-Stanek , A , Jouk , P S , Keren ....

مصطلحات موضوعية: congenital disorder of glycosylation, developmental and epileptic encephalopathy, epilepsy, GPI-anchoring disorder, intellectual disability, HYPOTONIA-SEIZURES SYNDROME, CONGENITAL-ANOMALIES, PRENATAL-DIAGNOSIS, MUTATION, PHENOTYPE, PROTEINS

العلاقة: https://cris.maastrichtuniversity.nl/en/publications/0de515e6-beb9-44d5-98da-4fa8681f15b0Test

الإتاحة: https://doi.org/10.1111/epi.17173Test
https://cris.maastrichtuniversity.nl/en/publications/0de515e6-beb9-44d5-98da-4fa8681f15b0Test

المؤلفون: Bayat, A, Valles-Ibanez, G, Pendziwiat, M, Knaus, A, Alt, K, Biamino, E, Bley, A, Calvert, S, Carney, P, Caro-Llopis, A, Ceulemans, B, Cousin, J, Davis, S, Portes, V, Edery, P, England, E, Ferreira, C, Freeman, J, Gener, B, Gorce, M, Heron, D, Hildebrand, MS, Jezela-Stanek, A, Jouk, P-S, Keren, B, Kloth, K, Kluger, G, Kuhn, M, Lemke, JR, Li, H, Martinez, F, Maxton, C, Mefford, HC, Merla, G, Mierzewska, H, Muir, A, Monfort, S, Nicolai, J, Norman, J, O'Grady, G, Oleksy, B, Orellana, C, Orec, LE, Peinhardt, C, Pronicka, E, Rosello, M, Santos-Simarro, F, Schwaibold, EMC, Stegmann, APA, Stumpel, CT, Szczepanik, E, Terczynska, I, Thevenon, J, Tzschach, A, Van Bogaert, P, Vittorini, R, Walsh, S, Weckhuysen, S, Weissman, B, Wolfe, L, Reymond, A, De Nittis, P, Poduri, A, Olson, H, Striano, P, Lesca, G, Scheffer, IE, Moller, RS, Sadleir, LG

العلاقة: NHMRC/2006841; Bayat, A., Valles-Ibanez, G., Pendziwiat, M., Knaus, A., Alt, K., Biamino, E., Bley, A., Calvert, S., Carney, P., Caro-Llopis, A., Ceulemans, B., Cousin, J., Davis, S., Portes, V., Edery, P., England, E., Ferreira, C., Freeman, J., Gener, B. ,. Sadleir, L. G. (2022). PIGN encephalopathy: Characterizing the epileptology. EPILEPSIA, 63 (4), pp.974-991. https://doi.org/10.1111/epi.17173Test.; http://hdl.handle.net/11343/297831Test

الإتاحة: https://doi.org/10.1111/epi.17173Test
http://hdl.handle.net/11343/297831Test

المؤلفون: Keller R., Carli D., Brighenti S., Salerno L., Biamino E., Raino E., Vitiello B., Ferrero G. B.

المساهمون: Keller R., Carli D., Brighenti S., Salerno L., Biamino E., Raino E., Vitiello B., Ferrero G.B.

مصطلحات موضوعية: Autism spectrum disorder, Bullying, Schizophrenia

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000655371400008; volume:62; issue:2; firstpage:107; lastpage:111; numberofpages:5; journal:MINERVA PSYCHIATRY; http://hdl.handle.net/2318/1795630Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85107380016

الإتاحة: https://doi.org/10.23736/S2724-6612.20.02142-1Test
http://hdl.handle.net/2318/1795630Test

المؤلفون: 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., Kubota K., Lemons J. M., Magrina M. A., Mark P. R., McDonald M. T., Montgomery S., Morley G. M., Ohnishi H., Okamoto N., Rodriguez-Buritica D., Rump P., Sedlacek Z., Schatz K., Streff H., Uehara T., Walia J. S., Wheeler P. G., Wiesener A., Zweier C., Kawakami K., Wentzensen I. M., Lalani S. R., Siu V. M., Bi W., Balci T. B.

المساهمون: 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., Kubota K., Lemons J.M., Magrina M.A., Mark P.R., McDonald M.T., Montgomery S., Morley G.M., Ohnishi H., Okamoto N., Rodriguez-Buritica D., Rump P., Sedlacek Z., Schatz K., Streff H., Uehara T., Walia J.S., Wheeler P.G., Wiesener A., Zweier C., Kawakami K., Wentzensen I.M., Lalani S.R., Siu V.M., Bi W., Balci T.B.

مصطلحات موضوعية: Mutation, Missense, Haploinsufficiency, Intellectual Disability, PRR12, neurodevelopmental disorder

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33824499; info:eu-repo/semantics/altIdentifier/wos/WOS:000637478700001; volume:23; issue:7; firstpage:1234; lastpage:1245; numberofpages:12; journal:GENETICS IN MEDICINE; http://hdl.handle.net/2318/1808620Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85103629659; https://www.nature.com/articles/s41436-021-01129-6Test

الإتاحة: https://doi.org/10.1038/s41436-021-01129-6Test
http://hdl.handle.net/2318/1808620Test
https://www.nature.com/articles/s41436-021-01129-6Test