المؤلفون: Radio, FC, Pang, KF, Ciolfi, A, Levy, MA, Hernandez-Garcia, A, Pedace, L, Pantaleoni, F, Liu, ZD, de Boer, E, Jackson, A, Bruselles, A, McConkey, H, Stellacci, E, Lo Cicero, S, Motta, M, Carrozzo, R, Dentici, ML, McWalter, K, Desai, M, Monaghan, KG, Telegrafi, A, Philippe, C, Vitobello, A, Au, M, Grand, K, Sanchez-Lara, PA, Baez, J, Lindstrom, K, Kulch, P, Sebastian, J, Madan-Khetarpal, S, Roadhouse, C, MacKenzie, JJ, Monteleone, B, Saunders, CJ, Cuevas, JKJ, Cross, L, Zhou, DH, Hartley, T, Sawyer, SL, Monteiro, FP, Secches, TV, Kok, F, Schultz-Rogers, LE, Macke, EL, Morava, E, Klee, EW, Kemppainen, J, Iascone, M, Selicorni, A, Tenconi, R, Amor, DJ, Pais, L, Gallacher, L, Turnpenny, PD, Stals, K, Ellard, S, Cabet, S, Lesca, G, Pascal, J, Steindl, K, Ravid, S, Weiss, K, Castle, AMR, Carter, MT, Kalsner, L, de Vries, BBA, van Bon, BW, Wevers, MR, Pfundt, R, Stegmann, APA, Kerr, B, Kingston, HM, Chandler, KE, Sheehan, W, Elias, AF, Shinde, DN, Towne, MC, Robin, NH, Goodloe, D, Vanderver, A, Sherbini, O, Bluske, K, Hagelstrom, RT, Zanus, C, Faletra, F, Musante, L, Kurtz-Nelson, EC, Earl, RK, Anderlid, BM, Morin, G, van Slegtenhorst, M, Diderich, KEM, Brooks, AS, Gribnau, J, Boers, RG, Finestra, TR, Carter, LB, Rauch, A, Gasparini, P, Boycott, KM, Barakat, TS, Graham, JM, Faivre, L, Banka, S, Wang, TY, Eichler, EE, Priolo, M, Dallapiccola, B, Vissers, LELM, Sadikovic, B, Scott, DA, Holder, JL, Tartaglia, M

المصدر: American journal of human genetics. 108(3):502-516

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:146295590Test

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

الإتاحة: https://doi.org/10.1016/j.gim.2023.101041Test
https://hdl.handle.net/10447/623193Test

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

الإتاحة: https://doi.org/10.3390/ijms23031815Test
http://hdl.handle.net/10447/547094Test

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: 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

العلاقة: https://repository.ubn.ru.nl/handle/2066/305178Test

الإتاحة: https://doi.org/10.1016/j.gim.2023.101050Test
https://repository.ubn.ru.nl/handle/2066/305178Test

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

العلاقة: https://research.manchester.ac.uk/en/publications/392b223a-877d-4c89-ba37-a44eac3d0adcTest

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

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: Thomas, Q, Motta, M, Gautier, T, Zaki, MS, Ciolfi, A, Paccaud, J, Girodon, F, Boespflug-Tanguy, O, Besnard, T, Kerkhof, J, McConkey, H, Masson, A, Denommé-Pichon, AS, Cogné, B, Trochu, E, Vignard, V, El It, F, Rodan, LH, Alkhateeb, MA, Jamra, RA, Duplomb, L, Tisserant, E, Duffourd, Y, Bruel, AL, Jackson, A, Banka, S, McEntagart, M, Saggar, A, Gleeson, JG, Sievert, D, Bae, H, Lee, BH, Kwon, K, Seo, GH, Lee, H, Saeed, A, Anjum, N, Cheema, H, Alawbathani, S, Khan, I, Pinto-Basto, J, Teoh, J, Wong, J, Sahari, UBM, Houlden, H, Zhelcheska, K, Pannetier, M, Awad, MA, Lesieur-Sebellin, M, Barcia, G, Amiel, J, Delanne, J, Philippe, C, Faivre, L, Odent, S, Bertoli-Avella, A, Thauvin, C, Sadikovic, B, Reversade, B, Maroofian, R, Govin, J, Tartaglia, M, Vitobello, A

المصدر: American Journal of Human Genetics , 109 (10) pp. 1909-1922. (2022)

مصطلحات موضوعية: DNA methylation, LBR, Pelger-Huët anomaly, TMEM147, facial dysmorphism, intellectual disability, neurodevelopmental disorder, nuclear envelope instability, transcriptomics, translocon dysfunction, Cell Nucleus, Child, Chromatin, Humans, Loss of Heterozygosity, Musculoskeletal Abnormalities, Pelger-Huet Anomaly

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10158009/1/1-s2.0-S0002929722003603-main.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10158009Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10158009/1/1-s2.0-S0002929722003603-main.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10158009Test/

المؤلفون: Al-Jawahiri, R, Foroutan, A, Kerkhof, J, McConkey, H, Levy, M, Haghshenas, S, Rooney, K, Turner, J, Shears, D, Holder, M, Lefroy, H, Castle, B, Reis, LM, Semina, EV, Lachlan, K, Chandler, K, Wright, T, Clayton-Smith, J, Hug, FP, Pitteloud, N, Bartoloni, L, Hoffjan, S, Park, S-M, Thankamony, A, Lees, M, Wakeling, E, Naik, S, Hanker, B, Girisha, KM, Agolini, E, Giuseppe, Z, Alban, Z, Tessarech, M, Keren, B, Afenjar, A, Zweier, C, Reis, A, Smol, T, Tsurusaki, Y, Nobuhiko, O, Sekiguchi, F, Tsuchida, N, Matsumoto, N, Kou, I, Yonezawa, Y, Ikegawa, S, Callewaert, B, Freeth, M, Kleinendorst, L, Donaldson, A, Alders, M, De Paepe, A, Sadikovic, B, McNeill, A, Nickerson, D, Bamshad, M, Leal, S, Ambrose, JC, Arumugam, P, Bevers, R, Bleda, M, Boardman-Pretty, F, Boustred, CR, Brittain, H, Caulfield, MJ, Chan, GC, Elgar, G, Fowler, T, Giess, A, Hamblin, A, Henderson, S, Hubbard, TJP, Jackson, R, Jones, LJ, Kasperaviciute, D, Kayikci, M, Kousathanas, A, Lahnstein, L, Leigh, SEA, Leong, IUS, Lopez, JF, FionaMaleady-Crowe, McEntagart, M, Minneci, F, Moutsianas, L, Mueller, M, Murugaesu, N, Need, AC, O’Donovan, P, Odhams, CA, Patch, C, Pereira, MB, Perez-Gil, D, Pullinger, J, TahrimaRahim, Rendon, A, TimRogers, Savage, K, Sawant, K, Scott, RH, Siddiq, A, Sieghart, A, Smith, SC, Sosinsky, A, Stuckey, A, Tanguy, M, Taylor Tavares, AL, Thomas, ERA, Thompson, SR, Tucci, A, Welland, MJ, Williams, E, Witkowska, K, Wood, SM

وصف الملف: text

العلاقة: https://eprints.whiterose.ac.uk/190170/1/Al-Jawahiri%20et%20al.%202022.pdfTest; Al-Jawahiri, R orcid.org/0000-0002-5689-3368 , Foroutan, A, Kerkhof, J et al. (111 more authors) (2022) SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile. Genetics in Medicine, 24 (6). pp. 1261-1273. ISSN 1098-3600

الإتاحة: https://eprints.whiterose.ac.uk/190170Test/
https://eprints.whiterose.ac.uk/190170/1/Al-Jawahiri%20et%20al.%202022.pdfTest

المؤلفون: Weerts, MJA, Lanko, K, Guzmán-Vega, FJ, Jackson, A, Ramakrishnan, R, Cardona-Londoño, KJ, Peña-Guerra, KA, van Bever, Y, van Paassen, BW, Kievit, A, van Slegtenhorst, M, Allen, NM, Kehoe, CM, Robinson, HK, Pang, L, Banu, SH, Zaman, M, Efthymiou, S, Houlden, H, Järvelä, I, Lauronen, L, Määttä, T, Schrauwen, I, Leal, SM, Ruivenkamp, CAL, Barge-Schaapveld, DQCM, Peeters-Scholte, CMPCD, Galehdari, H, Mazaheri, N, Sisodiya, SM, Harrison, V, Sun, A, Thies, J, Pedroza, LA, Lara-Taranchenko, Y, Chinn, IK, Lupski, JR, Garza-Flores, A, McGlothlin, J, Yang, L, Huang, S, Wang, X, Jewett, T, Rosso, G, Lin, X, Mohammed, S, Merritt, JL, Mirzaa, GM, Timms, AE, Scheck, J, Elting, MW, Polstra, AM, Schenck, L, Ruzhnikov, MRZ, Vetro, A, Montomoli, M, Guerrini, R, Koboldt, DC, Mosher, TM, Pastore, MT, McBride, KL, Peng, J, Pan, Z, Willemsen, M, Koning, S, Turnpenny, PD, de Vries, BBA, Gilissen, C, Pfundt, R, Lees, M, Braddock, SR, Klemp, KC, Vansenne, F, van Gijn, ME, Quindipan, C, Deardorff, MA, Hamm, JA, Putnam, AM, Baud, R, Walsh, L, Lynch, SA, Baptista, J, Person, RE, Monaghan, KG, Crunk, A, Keller-Ramey, J, Reich, A, Elloumi, HZ, Alders, M, Kerkhof, J, McConkey, H, Haghshenas, S, Genomics England Research Consortium, Maroofian, R, Sadikovic, B, Banka, S, Arold, ST, Barakat, TS

وصف الملف: application/pdf; application/vnd.ms-excel

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/114578/1/1-s2.0-S1098360021051728-main.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/114578/6/1-s2.0-S1098360021051728-mmc1.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/114578/11/1-s2.0-S1098360021051728-mmc2.xlsxTest; https://openaccess.sgul.ac.uk/id/eprint/114578/12/1-s2.0-S1098360021051728-mmc3.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/114578/17/1-s2.0-S1098360021051728-mmc4.xlsxTest; https://openaccess.sgul.ac.uk/id/eprint/114578/18/1-s2.0-S1098360021051728-mmc5.xlsxTest; Weerts, MJA; Lanko, K; Guzmán-Vega, FJ; Jackson, A; Ramakrishnan, R; Cardona-Londoño, KJ; Peña-Guerra, KA; van Bever, Y; van Paassen, BW; Kievit, A; et al. Weerts, MJA; Lanko, K; Guzmán-Vega, FJ; Jackson, A; Ramakrishnan, R; Cardona-Londoño, KJ; Peña-Guerra, KA; van Bever, Y; van Paassen, BW; Kievit, A; van Slegtenhorst, M; Allen, NM; Kehoe, CM; Robinson, HK; Pang, L; Banu, SH; Zaman, M; Efthymiou, S; Houlden, H; Järvelä, I; Lauronen, L; Määttä, T; Schrauwen, I; Leal, SM; Ruivenkamp, CAL; Barge-Schaapveld, DQCM; Peeters-Scholte, CMPCD; Galehdari, H; Mazaheri, N; Sisodiya, SM; Harrison, V; Sun, A; Thies, J; Pedroza, LA; Lara-Taranchenko, Y; Chinn, IK; Lupski, JR; Garza-Flores, A; McGlothlin, J; Yang, L; Huang, S; Wang, X; Jewett, T; Rosso, G; Lin, X; Mohammed, S; Merritt, JL; Mirzaa, GM; Timms, AE; Scheck, J; Elting, MW; Polstra, AM; Schenck, L; Ruzhnikov, MRZ; Vetro, A; Montomoli, M; Guerrini, R; Koboldt, DC; Mosher, TM; Pastore, MT; McBride, KL; Peng, J; Pan, Z; Willemsen, M; Koning, S; Turnpenny, PD; de Vries, BBA; Gilissen, C; Pfundt, R; Lees, M; Braddock, SR; Klemp, KC; Vansenne, F; van Gijn, ME; Quindipan, C; Deardorff, MA; Hamm, JA; Putnam, AM; Baud, R; Walsh, L; Lynch, SA; Baptista, J; Person, RE; Monaghan, KG; Crunk, A; Keller-Ramey, J; Reich, A; Elloumi, HZ; Alders, M; Kerkhof, J; McConkey, H; Haghshenas, S; Genomics England Research Consortium; Maroofian, R; Sadikovic, B; Banka, S; Arold, ST; Barakat, TS (2021) Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome. Genet Med, 23 (11). pp. 2122-2137. ISSN 1530-0366 https://doi.org/10.1038/s41436-021-01246-2Test SGUL Authors: Maroofian, Reza

الإتاحة: https://doi.org/10.1038/s41436-021-01246-2Test
https://openaccess.sgul.ac.uk/id/eprint/114578Test/
https://openaccess.sgul.ac.uk/id/eprint/114578/1/1-s2.0-S1098360021051728-main.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/114578/6/1-s2.0-S1098360021051728-mmc1.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/114578/11/1-s2.0-S1098360021051728-mmc2.xlsxTest
https://openaccess.sgul.ac.uk/id/eprint/114578/12/1-s2.0-S1098360021051728-mmc3.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/114578/17/1-s2.0-S1098360021051728-mmc4.xlsxTest
https://openaccess.sgul.ac.uk/id/eprint/114578/18/1-s2.0-S1098360021051728-mmc5.xlsxTest