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1دورية أكاديمية
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
العلاقة: Science Advances; Sci Adv; http://hdl.handle.net/20.500.12210/84140Test
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2دورية أكاديمية
المؤلفون: Schühle, P., Stöber, R., Semmel, M., Schaadt, A., Szolak, R., Thill, S., Alders, M., Hebling, C., Wasserscheid, P., Salem, O.
المصدر: Energy & Environmental Science ; volume 16, issue 7, page 3002-3013 ; ISSN 1754-5692 1754-5706
الإتاحة: https://doi.org/10.1039/d3ee00228dTest
http://pubs.rsc.org/en/content/articlepdf/2023/EE/D3EE00228DTest -
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: Karimi K., Mol M. O., Haghshenas S., Relator R., Levy M. A., Kerkhof J., McConkey H., Brooks A., Zonneveld-Huijssoon E., Gerkes E. H., Tedder M. L., Vissers L., Salzano E., Piccione M., Asaftei S. D., Carli D., Mussa A., Shukarova-Angelovska E., Trajkova S., Brusco A., Merla G., Alders M. M., Bouman A., Sadikovic B.
المساهمون: Karimi K., Mol M.O., Haghshenas S., Relator R., Levy M.A., Kerkhof J., McConkey H., Brooks A., Zonneveld-Huijssoon E., Gerkes E.H., Tedder M.L., Vissers L., Salzano E., Piccione M., Asaftei S.D., Carli D., Mussa A., Shukarova-Angelovska E., Trajkova S., Brusco A., Merla G., Alders M.M., Bouman A., Sadikovic B.
مصطلحات موضوعية: CTCF, DNA methylation, Developmental disorder, Episignature,IDD21
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38054406; volume:26; issue:3; firstpage:101041; numberofpages:14; journal:GENETICS IN MEDICINE; https://hdl.handle.net/10447/623193Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85182571710
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6دورية أكاديمية
المؤلفون: Laan, L. van der, Karimi, K., Rooney, K., Lauffer, P., McConkey, H., Caro, P., Relator, R., Levy, M.A., Bhai, P., Mignot, C., Keren, B., Briuglia, S., Sobering, A.K., Li, D., Vissers, L.E.L.M., Dingemans, A.J.M., Valenzuela, I., Verberne, E.A., Misra-Isrie, M., Zwijnenburg, P.J., Waisfisz, Q., Alders, M., Sailer, S., Schaaf, C.P., Mannens, M., Sadikovic, B., Haelst, M.M. van, Henneman, P.
المصدر: Genetics in Medicine, 26, 3, pp. 101050
مصطلحات موضوعية: Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience, Radboudumc 7: Neurodevelopmental disorders Human Genetics
الإتاحة: https://doi.org/10.1016/j.gim.2023.101050Test
https://repository.ubn.ru.nl/handle/2066/305178Test -
7دورية أكاديمية
المؤلفون: Kerkhof, J, Rastin, C, Levy, MA, Relator, R, McConkey, H, Demain, L, Dominguez-Garrido, E, Kaat, LD, Houge, SD, DuPont, BR, Fee, T, Gokhale, D, Haukanes, BI, Henneman, P, Hilton, BA, Louie, RJ, Motazacker, MM, Rzasa, J, Plomp, A, van der Laan, L, van der Smagt, J, Walden, KK, Banka, S, Mannens, M, Skinner, SA, Friez, MJ, Tedder, ML, Alders, M, Sadikovic, B
المصدر: Kerkhof , J , Rastin , C , Levy , MA , Relator , R , McConkey , H , Demain , L , Dominguez-Garrido , E , Kaat , LD , Houge , SD , DuPont , BR , Fee , T , Gokhale , D , Haukanes , BI , Henneman , P , Hilton , BA , Louie , RJ , Motazacker , MM , Rzasa , J , Plomp , A , van der Laan , L , van der Smagt , J , Walden , KK , Banka , S , Mannens , M ....
مصطلحات موضوعية: DNA methylation, EpiSign, Episignature, Molecular diagnostics, VUS classi fi cation
الإتاحة: https://doi.org/10.1016/j.gim.2024.101075Test
https://research.manchester.ac.uk/en/publications/392b223a-877d-4c89-ba37-a44eac3d0adcTest
https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=pure_starter&SrcAuth=WosAPI&KeyUT=WOS:001204147500001&DestLinkType=FullRecord&DestApp=WOS_CPLTest -
8دورية أكاديمية
المؤلفون: Levy, MA, McConkey, H, Kerkhof, J, Barat-Houari, M, Bargiacchi, S, Biamino, E, Bralo, MP, 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, Østergaard, 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
المصدر: urn:ISSN:2666-2477 ; Human Genetics and Genomics Advances, 3, 1, 100075
مصطلحات موضوعية: Genetics, Brain Disorders, Biotechnology, Human Genome, Clinical Research, Genetic Testing, 2 Aetiology, 4 Detection, screening and diagnosis, 2.1 Biological and endogenous factors, 4.1 Discovery and preclinical testing of markers and technologies, Generic health relevance, Clinical diagnostics, DNA methylation, Epigenetics, Episignatures, Neurodevelopmental disorders
وصف الملف: application/pdf
العلاقة: http://hdl.handle.net/1959.4/unsworks_78775Test; https://unsworks.unsw.edu.au/bitstreams/89d9f616-5d1d-48c9-bf65-5ec9d92e2243/downloadTest; https://unsworks.unsw.edu.au/bitstreams/dd07773a-6272-4e23-8592-b96422f494dd/downloadTest; https://doi.org/10.1016/j.xhgg.2021.100075Test
الإتاحة: https://doi.org/10.1016/j.xhgg.2021.100075Test
http://hdl.handle.net/1959.4/unsworks_78775Test
https://unsworks.unsw.edu.au/bitstreams/89d9f616-5d1d-48c9-bf65-5ec9d92e2243/downloadTest
https://unsworks.unsw.edu.au/bitstreams/dd07773a-6272-4e23-8592-b96422f494dd/downloadTest -
9دورية 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: A. Foroutan, S. Haghshena, P. Bhai, M.A. Levy, J. Kerkhof, H. Mcconkey, M. Niceta, A. Ciolfi, L. Pedace, E. Miele, D. Genevieve, S. Heide, M. Alder, G. Zampino, G. Merla, M. Fradin, E. Bieth, D. Bonneau, K. Dieterich, P. Fergelot, E. Schaefer, L. Faivre, A. Vitobello, S. Maitz, R. Fischetto, C. Gervasini, M. Piccione, I. van de Laar, M. Tartaglia, B. Sadikovic, A.-. Lebre
مصطلحات موضوعية: DNA methylation, Epigenetic, Episignature, Intellectual disability, KMT2A gene, Neurodevelopmental disorder, Wiedemann–Steiner syndrome, Settore MED/03 - Genetica Medica
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35163737; info:eu-repo/semantics/altIdentifier/wos/WOS:000759997000001; volume:23; issue:3; firstpage:1; lastpage:17; numberofpages:17; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; http://hdl.handle.net/2434/912303Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85123938038
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10دورية أكاديمية
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-04470583Test ; Science Advances , 2022, Science Advances, 8, pp.eabo7112. ⟨10.1126/sciadv.abo7112⟩.
مصطلحات موضوعية: [SDV]Life Sciences [q-bio]
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35977029; hal-04470583; https://hal.univ-lille.fr/hal-04470583Test; https://hal.univ-lille.fr/hal-04470583/documentTest; https://hal.univ-lille.fr/hal-04470583/file/sciadv.abo7112.pdfTest; PUBMED: 35977029
الإتاحة: https://doi.org/10.1126/sciadv.abo7112Test
https://hal.univ-lille.fr/hal-04470583Test
https://hal.univ-lille.fr/hal-04470583/documentTest
https://hal.univ-lille.fr/hal-04470583/file/sciadv.abo7112.pdfTest