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1دورية 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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2دورية 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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3دورية أكاديمية
المؤلفون: de Boer, E, Ockeloen, CW, Kampen, RA, Hampstead, JE, Dingemans, AJM, Rots, D, Lütje, L, Ashraf, T, Baker, R, Barat-Houari, M, Angle, B, Chatron, N, Denommé-Pichon, A-S, Devinsky, O, Dubourg, C, Elmslie, F, Elloumi, HZ, Faivre, L, Fitzgerald-Butt, S, Geneviève, D, Goos, JAC, Helm, BM, Kini, U, Lasa-Aranzasti, A, Lesca, G, Lynch, SA, Mathijssen, IMJ, McGowan, R, Monaghan, KG, Odent, S, Pfundt, R, Putoux, A, van Reeuwijk, J, Santen, GWE, Sasaki, E, Sorlin, A, van der Spek, PJ, Stegmann, APA, Swagemakers, SMA, Valenzuela, I, Viora-Dupont, E, Vitobello, A, Ware, SM, Wéber, M, Gilissen, C, Low, KJ, Fisher, SE, Vissers, LELM, Wong, MMK, Kleefstra, T
وصف الملف: application/pdf; application/zip; application/vnd.ms-excel
العلاقة: https://openaccess.sgul.ac.uk/id/eprint/115087/1/1-s2.0-S1098360022008164-main.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/115087/6/1-s2.0-S1098360022008164-mmc1.zipTest; https://openaccess.sgul.ac.uk/id/eprint/115087/7/1-s2.0-S1098360022008164-mmc2.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/115087/12/1-s2.0-S1098360022008164-mmc3.xlsxTest; https://openaccess.sgul.ac.uk/id/eprint/115087/13/1-s2.0-S1098360022008164-mmc4.xlsxTest; https://openaccess.sgul.ac.uk/id/eprint/115087/14/1-s2.0-S1098360022008164-mmc5.xlsxTest; https://openaccess.sgul.ac.uk/id/eprint/115087/15/1-s2.0-S1098360022008164-mmc6.xlsxTest; https://openaccess.sgul.ac.uk/id/eprint/115087/16/1-s2.0-S1098360022008164-mmc7.xlsxTest; https://openaccess.sgul.ac.uk/id/eprint/115087/17/1-s2.0-S1098360022008164-mmc8.xlsxTest; de Boer, E; Ockeloen, CW; Kampen, RA; Hampstead, JE; Dingemans, AJM; Rots, D; Lütje, L; Ashraf, T; Baker, R; Barat-Houari, M; et al. de Boer, E; Ockeloen, CW; Kampen, RA; Hampstead, JE; Dingemans, AJM; Rots, D; Lütje, L; Ashraf, T; Baker, R; Barat-Houari, M; Angle, B; Chatron, N; Denommé-Pichon, A-S; Devinsky, O; Dubourg, C; Elmslie, F; Elloumi, HZ; Faivre, L; Fitzgerald-Butt, S; Geneviève, D; Goos, JAC; Helm, BM; Kini, U; Lasa-Aranzasti, A; Lesca, G; Lynch, SA; Mathijssen, IMJ; McGowan, R; Monaghan, KG; Odent, S; Pfundt, R; Putoux, A; van Reeuwijk, J; Santen, GWE; Sasaki, E; Sorlin, A; van der Spek, PJ; Stegmann, APA; Swagemakers, SMA; Valenzuela, I; Viora-Dupont, E; Vitobello, A; Ware, SM; Wéber, M; Gilissen, C; Low, KJ; Fisher, SE; Vissers, LELM; Wong, MMK; Kleefstra, T (2022) Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein. Genet Med, 24 (10). pp. 2051-2064. ISSN 1530-0366 https://doi.org/10.1016/j.gim.2022.06.007Test SGUL Authors: Elmslie, Frances
الإتاحة: https://doi.org/10.1016/j.gim.2022.06.007Test
https://openaccess.sgul.ac.uk/id/eprint/115087Test/
https://openaccess.sgul.ac.uk/id/eprint/115087/1/1-s2.0-S1098360022008164-main.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/115087/6/1-s2.0-S1098360022008164-mmc1.zipTest
https://openaccess.sgul.ac.uk/id/eprint/115087/7/1-s2.0-S1098360022008164-mmc2.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/115087/12/1-s2.0-S1098360022008164-mmc3.xlsxTest
https://openaccess.sgul.ac.uk/id/eprint/115087/13/1-s2.0-S1098360022008164-mmc4.xlsxTest
https://openaccess.sgul.ac.uk/id/eprint/115087/14/1-s2.0-S1098360022008164-mmc5.xlsxTest
https://openaccess.sgul.ac.uk/id/eprint/115087/15/1-s2.0-S1098360022008164-mmc6.xlsxTest
https://openaccess.sgul.ac.uk/id/eprint/115087/16/1-s2.0-S1098360022008164-mmc7.xlsxTest -
4دورية أكاديمية
المؤلفون: De Boer, E., Ockeloen, C., Kampen, R., Hampstead, J., Dingemans, A., Rots, D., Lütje, L., Ashraf, T., Baker, R., Barat-Houari, M., Angle, B., Chatron, N., Denommé-Pichon, A., Devinsky, O., Dubourg, C., Elmslie, F., Elloumi, H., Faivre, L., Fitzgerald-Butt, S., Geneviève, D., Goos, J., Helm, B., Kini, U., Lasa-Aranzasti, A., Lesca, G., Lynch, S., Mathijssen, I., McGowan, R., Monaghan, K., Odent, S., Pfundt, R., Putoux, A., Van Reeuwijk, J., Santen, G., Sasaki, E., Sorlin, A., Van der Spek, P., Stegmann, A., Swagemakers, S., Valenzuela, I., Viora-Dupont, E., Vitobello, A., Ware, S., Wéber, M., Gilissen, C., Low, K., Fisher, S., Vissers, L., Wong, M., Kleefstra, T.
المصدر: Genetics in Medicine
وصف الملف: application/pdf
العلاقة: http://hdl.handle.net/21.11116/0000-000A-B956-5Test; http://hdl.handle.net/21.11116/0000-000B-325E-4Test; http://hdl.handle.net/21.11116/0000-000E-066F-0Test
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5دورية أكاديمية
المؤلفون: Boer, E. de, Ockeloen, C.W., Kampen, R.A., Hampstead, J.E., Dingemans, A.J.M., Rots, D., Lütje, L., Ashraf, T., Baker, R., Barat-Houari, M., Angle, B., Chatron, N., Denommé-Pichon, A.S., Devinsky, O., Dubourg, C., Elmslie, F., Elloumi, H.Z., Faivre, L., Fitzgerald-Butt, S., Geneviéve, D., Goos, J.A.C., Helm, B.M., Kini, U., Lasa-Aranzasti, A., Lesca, G., Lynch, S.A., Mathijssen, I.M.J., McGowan, R., Monaghan, K.G., Odent, S., Pfundt, R., Putoux, A., Reeuwijk, J. van, Santen, G.W.E., Sasaki, E., Sorlin, A., Spek, P.J. van der, Stegmann, A.P.A., Swagemakers, S.M.A., Valenzuela, I., Viora-Dupont, E., Vitobello, A., Ware, S.M., Wéber, M., Gilissen, C., Low, K.J., Fisher, S.E., Vissers, L.E.L.M., Wong, M.M.K., Kleefstra, T.
المصدر: Genetics in Medicine
وصف الملف: application/pdf
العلاقة: https://www.sciencedirect.com/science/article/pii/S1098360023009784?via%3DihubTest; lumc-id: 185116162; https://hdl.handle.net/1887/3736229Test
الإتاحة: https://doi.org/10.1016/j.gim.2023.100962Test
https://hdl.handle.net/1887/3736229Test
https://www.sciencedirect.com/science/article/pii/S1098360023009784?via%3DihubTest -
6دورية أكاديمية
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
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7دورية أكاديمية
المؤلفون: Boer, E. de, Ockeloen, C.W., Kampen, R.A., Hampstead, J.E., Dingemans, A.J.M., Rots, D., Lutje, L., Ashraf, T., Baker, R., Barat-Houari, M., Angle, B., Chatron, N., Denomme-Pichon, A.S., Devinsky, O., Dubourg, C., Elmslie, F., Elloumi, H.Z., Faivre, L., Fitzgerald-Butt, S., Genevieve, D., Goos, J.A.C., Helm, B.M., Kini, U., Lasa-Aranzasti, A., Lesca, G., Lynch, S.A., Mathijssen, I.M.J., McGowan, R., Monaghan, K.G., Odent, S., Pfundt, R., Putoux, A., Reeuwijk, J. van, Santen, G.W.E., Sasaki, E., Sorlin, A., Spek, P.J. van der, Stegmann, A.P.A., Swagemakers, S.M.A., Valenzuela, I., Viora-Dupont, E., Vitobello, A., Ware, S.M., Weber, M., Gilissen, C., Low, K.J., Fisher, S.E., Vissers, L.E.L.M., Wong, M.M.K., Kleefstra, T.
المصدر: Genetics in Medicine
مصطلحات موضوعية: ANKRD11, Genotype-phenotype study, KBG syndrome, Missense variants, Neurodevelopmental disorders
وصف الملف: application/pdf
العلاقة: lumc-id: 176394463; https://hdl.handle.net/1887/3561457Test
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8دورية أكاديمية
المؤلفون: Rouxel, F., Yauy, K., Boursier, G., Gatinois, V., Barat-Houari, M., Sanchez, E., Lacombe, D., Arpin, S., Giuliano, F., Haye, D., Rio, M., Toutain, A., Dieterich, K., Brischoux-Boucher, E., Julia, S., Nizon, M., Afenjar, A., Keren, B., Jacquette, A., Moutton, S., Jacquemont, M.L., Duflos, C., Capri, Y., Amiel, J., Blanchet, P., Lyonnet, S., Sanlaville, D., Genevieve, D.
المصدر: European journal of human genetics, vol. 30, no. 6, pp. 682-686
مصطلحات موضوعية: Abnormalities, Multiple/diagnosis, Multiple/genetics, Face/abnormalities, Facial Recognition, Hematologic Diseases/diagnosis, Hematologic Diseases/genetics, Humans, Mutation, Vestibular Diseases/diagnosis, Vestibular Diseases/genetics
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34803161; info:eu-repo/semantics/altIdentifier/eissn/1476-5438; https://serval.unil.ch/notice/serval:BIB_5FB010BE5972Test; urn:issn:1018-4813
الإتاحة: https://doi.org/10.1038/s41431-021-00994-8Test
https://serval.unil.ch/notice/serval:BIB_5FB010BE5972Test -
9دورية أكاديمية
المؤلفون: Willems, M., Amouroux, C., Barat-Houari, M., Salles, J.-P., Edouard, T.
المصدر: Archives de Pédiatrie ; volume 28, issue 8, page 28/8S27-28/8S32 ; ISSN 0929-693X
مصطلحات موضوعية: Pediatrics, Perinatology and Child Health
الإتاحة: https://doi.org/10.1016/s0929-693xTest(22)00040-9
https://api.elsevier.com/content/article/PII:S0929693X22000409?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0929693X22000409?httpAccept=text/plainTest -
10دورية أكاديمية
المؤلفون: Bögershausen, N., Gatinois, V., Riehmer, V., Kayserili, H., Becker, J., Thoenes, M., Simsek-Kiper, P., Barat-Houari, M., Elcioğlu, N.H., Wieczorek, D., Tinschert, S., Sarrabay, G., Strom, T.M., Fabre, A., Baynam, G., Sanchez, E., Nurnberg, G., Altunoglu, U., Capri, Y., Isidor, B., Lacombe, D., Corsini, C., Cormier-Daire, V., Sanlaville, D., Giuliano, F., Sang, K.L., Kayirangwa, H., Nürnberg, P., Meitinger, T., Boduroglu, K., Zoll, B., Lyonnet, S., Tzschach, A., Verloes, A., Donato, N.D., Touitou, I., Netzer, C., Li, Y., Geneviève, D., Yigit, G., Wollnik, B.
المصدر: Hum. Mutat. 37, 847-864 (2016)
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27302555; info:eu-repo/semantics/altIdentifier/wos/WOS:000382777100002; info:eu-repo/semantics/altIdentifier/isbn/1059-7794; info:eu-repo/semantics/altIden; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=48929Test; urn:isbn:1059-7794; urn:issn:1059-7794; urn:issn:1098-1004
الإتاحة: https://doi.org/10.1002/humu.23026Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=48929Test
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