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

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

المؤلفون: O'Donnell-Luria, AH, Pais, LS, Faundes, V, Wood, JC, Sveden, A, Luria, V, Abou Jamra, R, Accogli, A, Amburgey, K, Anderlid, BM, Azzarello-Burri, S, Basinger, AA, Bianchini, C, Bird, LM, Buchert, R, Carre, W, Ceulemans, S, Charles, P, Cox, H, Culliton, L, Curro, A, Demurger, F, Dowling, JJ, Duban-Bedu, B, Dubourg, C, Eiset, SE, Escobar, LF, Ferrarini, A, Haack, TB, Hashim, M, Heide, S, Helbig, KL, Helbig, I, Heredia, R, Heron, D, Isidor, B, Jonasson, AR, Joset, P, Keren, B, Kok, F, Kroes, HY, Lavillaureix, A, Lu, X, Maas, SM, Maegawa, GHB, Marcelis, CLM, Mark, PR, Masruha, MR, McLaughlin, HM, McWalter, K, Melchinger, EU, Mercimek-Andrews, S, Nava, C, Pendziwiat, M, Person, R, Ramelli, GP, Ramos, LLP, Rauch, A, Reavey, C, Renieri, A, Riess, A, Sanchez-Valle, A, Sattar, S, Saunders, C, Schwarz, N, Smol, T, Srour, M, Steindl, K, Syrbe, S, Taylor, JC, Telegrafi, A, Thiffault, I, Trauner, DA, van der Linden, H, van Koningsbruggen, S, Villard, L, Vogel, I, Vogt, J, Weber, YG, Wentzensen, IM, Widjaja, E, Zak, J, Baxter, S, Banka, S, Rodan, LH, Mcrae, JF, Clayton, S, Fitzgerald, TW, Kaplanis, J, Prigmore, E, Rajan, D, Sifrim, A, Aitken, S, Akawi, N, Alvi, M, Ambridge, K, Barrett, DM, Bayzetinova, T, Jones, P, Jones, WD, King, D, Krishnappa, N, Mason, LE, Singh, T, Tivey, AR, Ahmed, M, Anjum, U, Archer, H, Armstrong, R, Awada, J, Balasubramanian, M, Baralle, D, Barnicoat, A, Batstone, P, Baty, D, Bennett, C, Berg, J, Bernhard, B, Bevan, AP, Bitner-Glindzicz, M, Blair, E, Blyth, M, Bohanna, D, Bourdon, L, Bourn, D, Bradley, L, Brady, A, Brent, S, Brewer, C, Brunstrom, K, Bunyan, DJ, Burn, J, Canham, N, Castle, B, Chandler, K, Chatzimichali, E, Cilliers, D, Clarke, A, Clasper, S, Clayton-Smith, J, Clowes, V, Coates, A, Cole, T, Colgiu, I, Collins, A, Collinson, MN, Connell, F, Cooper, N, Cresswell, L, Cross, G, Crow, Y, D'Alessandro, M, Dabir, T, Davidson, R, Davies, S, de Vries, D, Dean, J, Deshpande, C, Devlin, G, Dixit, A, Dobbie, A, Donaldson, A, Donnai, D, Donnelly, D, Donnelly, C, Douglas, A, Douzgou, S, Duncan, A, Eason, J, Ellard, S, Ellis, I, Elmslie, F, Evans, K, Everest, S, Fendick, T, Fisher, R, Flinter, F, Foulds, N, Fry, A, Fryer, A, Gardiner, C, Gaunt, L, Ghali, N, Gibbons, R, Gill, H, Goodship, J, Goudie, D, Gray, E, Green, A, Greene, P, Greenhalgh, L, Gribble, S, Harrison, R, Harrison, L, Harrison, V, Hawkins, R, He, L, Hellens, S, Henderson, A, Hewitt, S, Hildyard, L, Hobson, E, Holden, S, Holder, M, Holder, S, Hollingsworth, G, Homfray, T, Humphreys, M, Hurst, J, Hutton, B, Ingram, S, Irving, M, Islam, L, Jackson, A, Jarvis, J, Jenkins, L, Johnson, D, Jones, E, Josifova, D, Joss, S, Kaemba, B, Kazembe, S, Kelsell, R, Kerr, B, Kingston, H, Kini, U, Kinning, E, Kirby, G, Kirk, C, Kivuva, E, Kraus, A, Kumar, D, Kumar, VKA, Lachlan, K, Lam, W, Lampe, A, Langman, C, Lees, M, Lim, D, Longman, C, Lowther, G, Lynch, SA, Magee, A, Maher, E, Male, A, Mansour, S, Marks, K, Martin, K, Maye, U, McCann, E, McConnell, V, McEntagart, M, McGowan, R, Mckay, K, Mckee, S, McMullan, DJ, McNerlan, S, McWilliam, C, Mehta, S, Metcalfe, K, Middleton, A, Miedzybrodzka, Z, Miles, E, Mohammed, S, Montgomery, T, Moore, D, Morgan, S, Morton, J, Mugalaasi, H, Murday, V, Murphy, H, Naik, S, Nemeth, A, Nevitt, L, Newbury-Ecob, R, Norman, A, O'Shea, R, Ogilvie, C, Ong, KR, Park, SM, Parker, MJ, Patel, C, Paterson, J, Payne, S, Perrett, D, Phipps, J, Pilz, DT, Pollard, M, Pottinger, C, Poulton, J, Pratt, N, Prescott, K, Price, S, Pridham, A, Procter, A, Purnell, H, Quarrell, O, Ragge, N, Rahbari, R, Randall, J, Rankin, J, Raymond, L, Rice, D, Robert, L, Roberts, E, Roberts, J, Roberts, P, Roberts, G, Ross, A, Rosser, E, Saggar, A, Samant, S, Sampson, J, Sandford, R, Sarkar, A, Schweiger, S, Scott, R, Scurr, I, Selby, A, Seller, A, Sequeira, C, Shannon, N, Sharif, S, Shaw-Smith, C, Shearing, E, Shears, D, Sheridan, E, Simonic, I, Singzon, R, Skitt, Z, Smith, A, Smith, K, Smithson, S, Sneddon, L, Splitt, M, Squires, M, Stewart, F, Stewart, H, Straub, V, Suri, M, Sutton, V, Swaminathan, GJ, Sweeney, E, Tatton-Brown, K, Taylor, C, Taylor, R, Tein, M, Temple, IK, Thomson, J, Tischkowitz, M, Tomkins, S, Torokwa, A, Treacy, B, Turner, C, Turnpenny, P, Tysoe, C, Vandersteen, A, Varghese, V, Vasudevan, P, Vijayarangakannan, P, Wakeling, E, Wallwark, S, Waters, J, Weber, A, Wellesley, D, Whiteford, M, Widaa, S, Wilcox, S, Wilkinson, E, Williams, D, Williams, N, Wilson, L, Woods, G, Wragg, C, Wright, M, Yates, L, Yau, M, Nellaker, C, Parker, M, Firth, HV, Wright, CF, FitzPatrick, DR, Barrett, JC, Hurles, ME

المصدر: American journal of human genetics. 104(6):1210-1222

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:141067079

المؤلفون: Clara-Hwang, Angela, Stefani, Stefani, Zara, Federico, Srinivasan, Varunvenkat M., Gowda, Vykuntaraju, Guliyeva, Ulviyya, Montavont, Alexandra, Poulat, Anne-Lise, Güleç, Ayten, Berger, Colette, Ville, Dorothee M., de Bellescize, Julitta, Lau, Tracy, Cabet, Sara, Wonneberger, A, Schulz, A, Rodriguez-Palmero, A, Chatron, N, Lesca, G, Per, H, Goel, Himanshu, Brown, J, Frey, T, Scala, Marcello, Steindl, K, Rauch, A, Severino, M, Houlden, H, Nicolaides, P, Striano, P, Efthymiou, S, Aynekin, Busra, Bernardo, Pia, Madia, Francesca, Bakhtadze, Sophia, Kaiyrzhanov, Rauan, Maroofian, Reza

المساهمون: The University of Newcastle. College of Health, Medicine & Wellbeing, School of Medicine and Public Health

مصطلحات موضوعية: CHD2 variants, epilepsy, ADHD, neuroimaging

Relation: Neurology : Genetics Vol. 10, Issue 4, no. e200168; http://hdl.handle.net/1959.13/1512658; uon:56655

الاتاحة: http://hdl.handle.net/1959.13/1512658

المؤلفون: Parenti, I., Lehalle, D., Nava, C., Torti, E., Leitão, E., Person, R., Mizuguchi, T., Matsumoto, N., Kato, M., Nakamura, K., De Man, S. A., Cope, H., Shashi, V., Friedman, J., Joset, P., Steindl, K., Rauch, A., Muffels, I., Van Hasselt, P. M., Petit, Florence, Smol, T., Le Guyader, G., Bilan, F., Sorlin, A., Vitobello, A., Philippe, C., Van De Laar, I. M. B. H., Van Slegtenhorst, M. A., Campeau, P. M., Au, P. Y. B., Nakashima, M., Saitsu, H., Yamamoto, T., Nomura, Y., Louie, R. J., Lyons, M. J., Dobson, A., Plomp, A. S., Motazacker, M. M., Kaiser, F. J., Timberlake, A. T., Fuchs, S. A., Depienne, C., Mignot, C.

المساهمون: Université de Lille, CHU Lille, Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364, Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 RADEME, Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon)

وصف الملف: application/octet-stream; application/rdf+xml; charset=utf-8; application/pdf

Relation: Human Genetics; Hum Genet; http://hdl.handle.net/20.500.12210/84176

الاتاحة: https://hdl.handle.net/20.500.12210/84176

المؤلفون: Maroofian, R, Kaiyrzhanov, R, Cali, E, Zamani, M, Zaki, MS, Ferla, M, Tortora, D, Sadeghian, S, Saadi, SM, Abdullah, U, Karimiani, EG, Efthymiou, S, Yeşil, G, Alavi, S, Al Shamsi, AM, Tajsharghi, H, Abdel-Hamid, MS, Saadi, NW, Al Mutairi, F, Alabdi, L, Beetz, C, Ali, Z, Toosi, MB, Rudnik-Schöneborn, S, Babaei, M, Isohanni, P, Muhammad, J, Khan, S, Al Shalan, M, Hickey, SE, Marom, D, Elhanan, E, Kurian, MA, Marafi, D, Saberi, A, Hamid, M, Spaull, R, Meng, L, Lalani, S, Maqbool, S, Rahman, F, Seeger, J, Palculict, TB, Lau, T, Murphy, D, Mencacci, NE, Steindl, K, Begemann, A, Rauch, A, Akbas, S, Aslanger, AD, Salpietro, V, Yousaf, H, Ben-Shachar, S, Ejeskär, K, Al Aqeel, AI, High, FA, Armstrong-Javors, AE, Zahraei, SM, Seifi, T, Zeighami, J, Shariati, G, Sedaghat, A, Asl, SN, Shahrooei, M, Zifarelli, G, Burglen, L, Ravelli, C, Zschocke, J, Schatz, UA, Ghavideldarestani, M, Kamel, WA, Van Esch, H, Hackenberg, A, Taylor, JC, Al-Gazali, L, Bauer, P, Gleeson, JJ, Alkuraya, FS, Lupski, JR, Galehdari, H, Azizimalamiri, R, Chung, WK, Baig, SM, Houlden, H, Severino, M

وصف الملف: application/pdf; application/zip

Relation: https://openaccess.sgul.ac.uk/id/eprint/116030/1/awad257.pdf; https://openaccess.sgul.ac.uk/id/eprint/116030/6/awad257_supplementary_data.zip; Maroofian, R; Kaiyrzhanov, R; Cali, E; Zamani, M; Zaki, MS; Ferla, M; Tortora, D; Sadeghian, S; Saadi, SM; Abdullah, U; et al. Maroofian, R; Kaiyrzhanov, R; Cali, E; Zamani, M; Zaki, MS; Ferla, M; Tortora, D; Sadeghian, S; Saadi, SM; Abdullah, U; Karimiani, EG; Efthymiou, S; Yeşil, G; Alavi, S; Al Shamsi, AM; Tajsharghi, H; Abdel-Hamid, MS; Saadi, NW; Al Mutairi, F; Alabdi, L; Beetz, C; Ali, Z; Toosi, MB; Rudnik-Schöneborn, S; Babaei, M; Isohanni, P; Muhammad, J; Khan, S; Al Shalan, M; Hickey, SE; Marom, D; Elhanan, E; Kurian, MA; Marafi, D; Saberi, A; Hamid, M; Spaull, R; Meng, L; Lalani, S; Maqbool, S; Rahman, F; Seeger, J; Palculict, TB; Lau, T; Murphy, D; Mencacci, NE; Steindl, K; Begemann, A; Rauch, A; Akbas, S; Aslanger, AD; Salpietro, V; Yousaf, H; Ben-Shachar, S; Ejeskär, K; Al Aqeel, AI; High, FA; Armstrong-Javors, AE; Zahraei, SM; Seifi, T; Zeighami, J; Shariati, G; Sedaghat, A; Asl, SN; Shahrooei, M; Zifarelli, G; Burglen, L; Ravelli, C; Zschocke, J; Schatz, UA; Ghavideldarestani, M; Kamel, WA; Van Esch, H; Hackenberg, A; Taylor, JC; Al-Gazali, L; Bauer, P; Gleeson, JJ; Alkuraya, FS; Lupski, JR; Galehdari, H; Azizimalamiri, R; Chung, WK; Baig, SM; Houlden, H; Severino, M (2023) Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders. Brain, 146 (12). pp. 5031-5043. ISSN 1460-2156 https://doi.org/10.1093/brain/awad257 SGUL Authors: Maroofian, Reza

الاتاحة: https://openaccess.sgul.ac.uk/id/eprint/116030/
https://openaccess.sgul.ac.uk/id/eprint/116030/1/awad257.pdf
https://openaccess.sgul.ac.uk/id/eprint/116030/6/awad257_supplementary_data.zip
https://doi.org/10.1093/brain/awad257

المؤلفون: Sheppard, SE, Bryant, L, Wickramasekara, RN, Vaccaro, C, Robertson, B, Hallgren, J, Hulen, J, Watson, CJ, Faundes, V, Duffourd, Y, Lee, P, Simon, MC, de la Cruz, X, Padilla, N, Flores-Mendez, M, Akizu, N, Smiler, J, Pellegrino Da Silva, R, Li, D, March, M, Diaz-Rosado, A, Peixoto de Barcelos, I, Choa, ZX, Lim, CY, Dubourg, C, Journel, H, Demurger, F, Mulhern, M, Akman, C, Lippa, N, Andrews, M, Baldridge, D, Constantino, J, van Haeringen, A, Snoeck-Streef, I, Chow, P, Hing, A, Graham, JM, Au, M, Faivre, L, Shen, W, Mao, R, Palumbos, J, Viskochil, D, Gahl, W, Tifft, C, Macnamara, E, Hauser, N, Miller, R, Maffeo, J, Afenjar, A, Doummar, D, Keren, B, Arn, P, Macklin-Mantia, S, Meerschaut, I, Callewaert, B, Reis, A, Zweier, C, Brewer, C, Saggar, A, Smeland, MF, Kumar, A, Elmslie, F, Deshpande, C, Nizon, M, Cogne, B, van Ierland, Y, Wilke, M, van Slegtenhorst, M, Koudijs, S, Chen, JY, Dredge, D, Pier, D, Wortmann, S, Kamsteeg, E-J, Koch, J, Haynes, D, Pollack, L, Titheradge, H, Ranguin, K, Denommé-Pichon, A-S, Weber, S, Pérez de la Fuente, R, Sánchez Del Pozo, J, Lezana Rosales, JM, Joset, P, Steindl, K, Rauch, A, Mei, D, Mari, F, Guerrini, R, Lespinasse, J, Tran Mau-Them, F, Philippe, C, Dauriat, B, Raymond, L, Moutton, S, Cueto-González, AM, Tan, TY, Mignot, C, Grotto, S, Renaldo, F, Drivas, TG, Hennessy, L, Raper, A, Parenti, I, Kaiser, FJ, Kuechler, A, Busk, ØL, Islam, L, Siedlik, JA, Henderson, LB, Juusola, J, Person, R, Schnur, RE, Vitobello, A, Banka, S, Bhoj, EJ, Stessman, HAF

وصف الملف: application/pdf; application/zip

Relation: https://openaccess.sgul.ac.uk/id/eprint/115477/1/sciadv.ade1463.pdf; https://openaccess.sgul.ac.uk/id/eprint/115477/6/sciadv.ade1463_sm.pdf; https://openaccess.sgul.ac.uk/id/eprint/115477/11/sciadv.ade1463_tables_s1_and_s5_to_s10.zip; Sheppard, SE; Bryant, L; Wickramasekara, RN; Vaccaro, C; Robertson, B; Hallgren, J; Hulen, J; Watson, CJ; Faundes, V; Duffourd, Y; et al. Sheppard, SE; Bryant, L; Wickramasekara, RN; Vaccaro, C; Robertson, B; Hallgren, J; Hulen, J; Watson, CJ; Faundes, V; Duffourd, Y; Lee, P; Simon, MC; de la Cruz, X; Padilla, N; Flores-Mendez, M; Akizu, N; Smiler, J; Pellegrino Da Silva, R; Li, D; March, M; Diaz-Rosado, A; Peixoto de Barcelos, I; Choa, ZX; Lim, CY; Dubourg, C; Journel, H; Demurger, F; Mulhern, M; Akman, C; Lippa, N; Andrews, M; Baldridge, D; Constantino, J; van Haeringen, A; Snoeck-Streef, I; Chow, P; Hing, A; Graham, JM; Au, M; Faivre, L; Shen, W; Mao, R; Palumbos, J; Viskochil, D; Gahl, W; Tifft, C; Macnamara, E; Hauser, N; Miller, R; Maffeo, J; Afenjar, A; Doummar, D; Keren, B; Arn, P; Macklin-Mantia, S; Meerschaut, I; Callewaert, B; Reis, A; Zweier, C; Brewer, C; Saggar, A; Smeland, MF; Kumar, A; Elmslie, F; Deshpande, C; Nizon, M; Cogne, B; van Ierland, Y; Wilke, M; van Slegtenhorst, M; Koudijs, S; Chen, JY; Dredge, D; Pier, D; Wortmann, S; Kamsteeg, E-J; Koch, J; Haynes, D; Pollack, L; Titheradge, H; Ranguin, K; Denommé-Pichon, A-S; Weber, S; Pérez de la Fuente, R; Sánchez Del Pozo, J; Lezana Rosales, JM; Joset, P; Steindl, K; Rauch, A; Mei, D; Mari, F; Guerrini, R; Lespinasse, J; Tran Mau-Them, F; Philippe, C; Dauriat, B; Raymond, L; Moutton, S; Cueto-González, AM; Tan, TY; Mignot, C; Grotto, S; Renaldo, F; Drivas, TG; Hennessy, L; Raper, A; Parenti, I; Kaiser, FJ; Kuechler, A; Busk, ØL; Islam, L; Siedlik, JA; Henderson, LB; Juusola, J; Person, R; Schnur, RE; Vitobello, A; Banka, S; Bhoj, EJ; Stessman, HAF (2023) Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Sci Adv, 9 (10). eade1463. ISSN 2375-2548 https://doi.org/10.1126/sciadv.ade1463 SGUL Authors: Elmslie, Frances

الاتاحة: https://openaccess.sgul.ac.uk/id/eprint/115477/
https://openaccess.sgul.ac.uk/id/eprint/115477/1/sciadv.ade1463.pdf
https://openaccess.sgul.ac.uk/id/eprint/115477/6/sciadv.ade1463_sm.pdf
https://openaccess.sgul.ac.uk/id/eprint/115477/11/sciadv.ade1463_tables_s1_and_s5_to_s10.zip
https://doi.org/10.1126/sciadv.ade1463

المؤلفون: Cali, E, Suri, M, Scala, M, Ferla, MP, Alavi, S, Faqeih, EA, Bijlsma, EK, Wigby, KM, Baralle, D, Mehrjardi, MYV, Schwab, J, Platzer, K, Steindl, K, Hashem, M, Jones, M, Niyazov, DM, Jacober, J, Littlejohn, RO, Weis, D, Zadeh, N, Rodan, L, Goldenberg, A, Lecoquierre, F, Dutra-Clarke, M, Horvath, G, Young, D, Orenstein, N, Bawazeer, S, Vulto-van Silfhout, AT, Herenger, Y, Dehghani, M, Seyedhassani, SM, Bahreini, A, Nasab, ME, Ercan-Sencicek, AG, Firoozfar, Z, Movahedinia, M, Efthymiou, S, Striano, P, Karimiani, EG, Salpietro, V, Taylor, JC, Redman, M, Stegmann, APA, Laner, A, Abdel-Salam, G, Li, M, Bengala, M, Müller, AJ, Digilio, MC, Rauch, A, Gunel, M, Titheradge, H, Schweitzer, DN, Kraus, A, Valenzuela, I, McLean, SD, Phornphutkul, C, Salih, M, Begtrup, A, Schnur, RE, Torti, E, Haack, TB, Prada, CE, Alkuraya, FS, Houlden, H, Maroofian, R

وصف الملف: application/pdf; application/vnd.ms-excel; application/vnd.openxmlformats-officedocument.wordprocessingml.document

Relation: https://openaccess.sgul.ac.uk/id/eprint/115315/1/1-s2.0-S1098360022009546-main.pdf; https://openaccess.sgul.ac.uk/id/eprint/115315/6/1-s2.0-S1098360022009546-mmc1.xlsx; https://openaccess.sgul.ac.uk/id/eprint/115315/7/1-s2.0-S1098360022009546-mmc2.xlsx; https://openaccess.sgul.ac.uk/id/eprint/115315/8/1-s2.0-S1098360022009546-mmc3.xlsx; https://openaccess.sgul.ac.uk/id/eprint/115315/9/1-s2.0-S1098360022009546-mmc4.docx; Cali, E; Suri, M; Scala, M; Ferla, MP; Alavi, S; Faqeih, EA; Bijlsma, EK; Wigby, KM; Baralle, D; Mehrjardi, MYV; et al. Cali, E; Suri, M; Scala, M; Ferla, MP; Alavi, S; Faqeih, EA; Bijlsma, EK; Wigby, KM; Baralle, D; Mehrjardi, MYV; Schwab, J; Platzer, K; Steindl, K; Hashem, M; Jones, M; Niyazov, DM; Jacober, J; Littlejohn, RO; Weis, D; Zadeh, N; Rodan, L; Goldenberg, A; Lecoquierre, F; Dutra-Clarke, M; Horvath, G; Young, D; Orenstein, N; Bawazeer, S; Vulto-van Silfhout, AT; Herenger, Y; Dehghani, M; Seyedhassani, SM; Bahreini, A; Nasab, ME; Ercan-Sencicek, AG; Firoozfar, Z; Movahedinia, M; Efthymiou, S; Striano, P; Karimiani, EG; Salpietro, V; Taylor, JC; Redman, M; Stegmann, APA; Laner, A; Abdel-Salam, G; Li, M; Bengala, M; Müller, AJ; Digilio, MC; Rauch, A; Gunel, M; Titheradge, H; Schweitzer, DN; Kraus, A; Valenzuela, I; McLean, SD; Phornphutkul, C; Salih, M; Begtrup, A; Schnur, RE; Torti, E; Haack, TB; Prada, CE; Alkuraya, FS; Houlden, H; Maroofian, R (2023) Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities. Genet Med, 25 (1). pp. 135-142. ISSN 1530-0366 https://doi.org/10.1016/j.gim.2022.09.016 SGUL Authors: Karimiani, Ehsan Ghayoor

الاتاحة: https://openaccess.sgul.ac.uk/id/eprint/115315/
https://openaccess.sgul.ac.uk/id/eprint/115315/1/1-s2.0-S1098360022009546-main.pdf
https://openaccess.sgul.ac.uk/id/eprint/115315/6/1-s2.0-S1098360022009546-mmc1.xlsx
https://openaccess.sgul.ac.uk/id/eprint/115315/7/1-s2.0-S1098360022009546-mmc2.xlsx
https://openaccess.sgul.ac.uk/id/eprint/115315/8/1-s2.0-S1098360022009546-mmc3.xlsx
https://openaccess.sgul.ac.uk/id/eprint/115315/9/1-s2.0-S1098360022009546-mmc4.docx
https://doi.org/10.1016/j.gim.2022.09.016

المؤلفون: Snijders Blok, L., Verseput, J., Rots, D., Venselaar, H., Innes, A., Stumpel, C., Õunap, K., Reinson, K., Seaby, E., McKee, S., Burton, B., Kim, K., Van Hagen, J., Waisfisz, Q., Joset, P., Steindl, K., Rauch, A., Li, D., Zackai, E., Sheppard, S., Keena, B., Hakonarson, H., Roos, A., Kohlschmidt, N., Cereda, A., Iascone, M., Rebessi, E., Kernohan, K., Campeau, P., Millan, F., Taylor, J., Lochmüller, H., Higgs, M., Goula, A., Bernhard, B., Velasco, D., Schmanski, A., Stark, Z., Gallacher, L., Pais, L., Marcogliese, P., Yamamoto, S., Raun, N., Jakub, T., Kramer, J., Den Hoed, J., Fisher, S., Brunner, H., Kleefstra, T.

المصدر: Human Genetics and Genomics Advances

وصف الملف: application/pdf

Relation: http://hdl.handle.net/21.11116/0000-000B-5C01-D; http://hdl.handle.net/21.11116/0000-000B-9C38-7

الاتاحة: http://hdl.handle.net/21.11116/0000-000B-5C01-D
http://hdl.handle.net/21.11116/0000-000B-9C38-7

المؤلفون: Asadollahi, R, Delvendahl, I, Muff, R, Tan, G, Rodríguez, D G, Turan, S, Russo, M, Oneda, B, Joset, P, Boonsawat, P, Masood, R, Mocera, M, Ivanovski, I, Baumer, A, Bachmann-Gagescu, R, Schlapbach, R, Rehrauer, H, Steindl, K, Begemann, A, Reis, A, Winkler, J, Winner, B, Müller, M, Rauch, A

المساهمون: Swiss National Science Foundation, University of Zurich Clinical Research Priority Program, University Research Priority Program of the University of Zurich, European Research Council Starting, Bavarian Ministry of Education and Culture, Science

المصدر: Human Molecular Genetics ; volume 32, issue 13, page 2192-2204 ; ISSN 0964-6906 1460-2083

الاتاحة: https://doi.org/10.1093/hmg/ddad048
https://academic.oup.com/hmg/advance-article-pdf/doi/10.1093/hmg/ddad048/50169611/ddad048.pdf
https://academic.oup.com/hmg/article-pdf/32/13/2192/50899320/ddad048.pdf

المؤلفون: Wood K. A., Tong R. S., Motta M., Cordeddu V., Scimone E. R., Bush S. J., Maxwell D. W., Giannoulatou E., Caputo V., Traversa A., Mancini C., Ferrero G. B., Benedicenti F., Grammatico P., Melis D., Steindl K., Brunetti-Pierri N., Trevisson E., Wilkie A. O., Lin A. E., Cormier-Daire V., Twigg S. R., Tartaglia M., Goriely A.

المساهمون: Wood, K. A., Tong, R. S., Motta, M., Cordeddu, V., Scimone, E. R., Bush, S. J., Maxwell, D. W., Giannoulatou, E., Caputo, V., Traversa, A., Mancini, C., Ferrero, G. B., Benedicenti, F., Grammatico, P., Melis, D., Steindl, K., Brunetti-Pierri, N., Trevisson, E., Wilkie, A. O., Lin, A. E., Cormier-Daire, V., Twigg, S. R., Tartaglia, M., Goriely, A.

مصطلحات موضوعية: de novo mutation, paternal age effect, rare disorder, selfish selection, spermatogonial stem cell, TGF-β/BMP/activin pathway

Relation: info:eu-repo/semantics/altIdentifier/pmid/39116879; info:eu-repo/semantics/altIdentifier/wos/WOS:001312382400001; volume:111; issue:9; journal:AMERICAN JOURNAL OF HUMAN GENETICS; https://hdl.handle.net/11577/3537598

الاتاحة: https://hdl.handle.net/11577/3537598
https://doi.org/10.1016/j.ajhg.2024.07.006

المؤلفون: Gokce-Samar, Z., Vetro, A., de Bellescize, J., Pisano, T., Monteiro, Laloa, Penaud, Noémie, Korff, Christian M., Fluss, Joel, Marini, C., Cesaroni, E., Alvarez, B. M., Sanlaville, Damien, Chatron, N., Arzimanoglou, A. A., Labalme, A., Cuddapah, V. A., Ruggiero, S. M., Lecoquierre, François, Nicolas, G., Marie, G. A., Lebas, A., Testard, H. O., Helbig, K. L., Ruiz, A., Ngoh, A., Kurian, M. A., Reid, K., Spaull, R., Joset, P., Ramantani, G., Steindl, K., Krenn, M., Gerstl, L., Vieker, S., Craiu, D., Pendziwiat, M., Haldeman-Englert, C., Kanivets, I., Romanova, I., Rajan, D. S., Rosenfeld, J. A., Au, M., Grand, K., Graham, M., Isapof, A., Villeneuve, N., Smol, Thomas, Caumes, R., Zacher, P., Neuser, S., Tinschert, S., Platzer, K., Bartolomaeus, T., Mohnke, I., Radtke, M., Jamra, R. A., Helbig, I., Jansen, F. E., Koop, K., Rudolf, G., Küry, S., Courchet, J., Guerrini, R., Lesca, G.

المساهمون: Institut NeuroMyoGène (INMG), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université de Lyon, Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Cancer and Brain Genomics (CBG), Normandie Université (NU)-Normandie Université (NU)-Institute for Research and Innovation in Biomedicine (IRIB), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), 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), ANR-11-LABX-0042,CORTEX,Construction, Fonction Cognitive et Réhabilitation du Cerveau(2011), ANR-11-IDEX-0007,Avenir L.S.E.,PROJET AVENIR LYON SAINT-ETIENNE(2011), European Project: 600385,EC:FP7:PEOPLE,FP7-PEOPLE-2012-COFUND,ITHACA(2013)

المصدر: Neurology ; https://hal.univ-lille.fr/hal-04631013 ; Neurology, 2024, Neurology, 102, pp.e207945. ⟨10.1212/WNL.0000000000207945⟩

مصطلحات موضوعية: [SDV]Life Sciences [q-bio]

Relation: info:eu-repo/semantics/altIdentifier/pmid/38165337; info:eu-repo/grantAgreement/EC/FP7/600385/EU/ITHACA/ITHACA; hal-04631013; https://hal.univ-lille.fr/hal-04631013; PUBMED: 38165337

الاتاحة: https://hal.univ-lille.fr/hal-04631013
https://doi.org/10.1212/WNL.0000000000207945

المؤلفون: Harel, T., Spicher, C., Scheer, E., Buchan, J. G., Cech, J., Folland, C., Frey, T., Holtz, A. M., Innes, A. M., Keren, B., Macken, W. L., Marcelis, C., Otten, C. E., Paolucci, S. A., Petit, Florence, Pfundt, R., Pitceathly, R. D. S., Rauch, A., Ravenscroft, G., Sanchev, R., Steindl, K., Tammer, F., Tyndall, A., Devys, D., Vincent, S. D., Elpeleg, O., Tora, L.

المساهمون: Université de Lille, CHU Lille, Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364

Relation: Brain; http://hdl.handle.net/20.500.12210/115620

الاتاحة: https://hdl.handle.net/20.500.12210/115620

المؤلفون: Wood, KA, Tong, RS, Motta, M, Cordeddu, V, Scimone, ER, Bush, SJ, Maxwell, D, Gianoulatou, E, Caputo, V, Traversa, A, Mancini, C, Ferrero, GB, Benedicenti, F, Grammatico, P, Melis, D, Steindl, K, Brunetti-Pierri, N, Trevisson, E, Wilkie, AOM, Lin, AE, Cormier-Daire, V, Twigg, SRF, Tartaglia, M, Goriely, A

Relation: https://ora.ox.ac.uk/objects/uuid:0afa1839-02a0-498d-9acf-a0cae8efe3a7

الاتاحة: https://ora.ox.ac.uk/objects/uuid:0afa1839-02a0-498d-9acf-a0cae8efe3a7

المؤلفون: Parenti, I., Lehalle, D., Nava, C., Torti, E., Leitão, E., Person, R., Mizuguchi, T., Matsumoto, N., Kato, M., Nakamura, K., de Man, S. A., Cope, H., Shashi, V., Friedman, J., Joset, P., Steindl, K., Rauch, A., Muffels, I., van Hasselt, P. M., Petit, Florence, Smol, T., Le Guyader, G., Bilan, F., Sorlin, A., Vitobello, A., Philippe, C., van de Laar, I. M. B. H., van Slegtenhorst, M. A., Campeau, P. M., Au, P. Y. B., Nakashima, M., Saitsu, H., Yamamoto, T., Nomura, Y., Louie, R. J., Lyons, M. J., Dobson, A., Plomp, A. S., Motazacker, M. M., Kaiser, F. J., Timberlake, A. T., Fuchs, S. A., Depienne, C., Mignot, C.

المساهمون: 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), Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), ANR-10-IAHU-0006,IHU-A-ICM,Institut de Neurosciences Translationnelles de Paris(2010)

المصدر: ISSN: 0340-6717.

مصطلحات موضوعية: [SDV]Life Sciences [q-bio]

Relation: info:eu-repo/semantics/altIdentifier/pmid/33944996; PUBMED: 33944996

الاتاحة: https://hal.univ-lille.fr/hal-04219762
https://hal.univ-lille.fr/hal-04219762v1/document
https://hal.univ-lille.fr/hal-04219762v1/file/s00439-021-02283-2.pdf
https://doi.org/10.1007/s00439-021-02283-2

المؤلفون: Lenaerts, L, Reynhout, S, Verbinnen, I, Laumonnier, F, Toutain, A, Bonnet-Brilhault, F, Hoorne, Y, Joss, S, Chassevent, AK, Smith-Hicks, C, Loeys, B, Joset, P, Steindl, K, Rauch, A, Mehta, SG, Chung, WK, DeVriendt, K, Holder, SE, Jewett, T, Baldwin, LM, Wilson, WG, Towner, S, Srivastava, S, Johnson, HF, Daumer-Haas, C, Baethmann, M, Ruiz, A, Gabau, E, Jain, V, Varghese, V, Al-Beshri, A, Fulton, S, Wechsberg, O, Orenstein, N, Prescott, K, Childs, AM, Faivre, L, Moutton, S, Sullivan, JA, Shashi, V, Koudijs, SM, Heijligers, M, Kivuva, E, McTague, A, Male, A, van Ierland, Yvette, Plecko, B, Maystadt, I, Hamid, R, Hannig, VL, Houge, G, Janssens, V

المصدر: Lenaerts , L , Reynhout , S , Verbinnen , I , Laumonnier , F , Toutain , A , Bonnet-Brilhault , F , Hoorne , Y , Joss , S , Chassevent , AK , Smith-Hicks , C , Loeys , B , Joset , P , Steindl , K , Rauch , A , Mehta , SG , Chung , WK , DeVriendt , K , Holder , SE , Jewett , T , Baldwin , LM , Wilson , WG , Towner , S , Srivastava , S , Johnson , HF , Daumer-Haas , C ....

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01, name=EMC OR-01

الاتاحة: https://pure.eur.nl/en/publications/dd1771c1-6507-4ca0-99eb-40b3ea93e39e
https://doi.org/10.1038/s41436-020-00981-2
http://www.scopus.com/inward/record.url?scp=85093843292&partnerID=8YFLogxK
https://www.nature.com/articles/s41436-020-00981-2.pdf

المؤلفون: Meng, L, Isohanni, P, Shao, Y, Graham, BH, Hickey, SE, Brooks, S, Suomalainen, A, Joset, P, Steindl, K, Rauch, A, Hackenberg, A, High, FA, Armstrong-Javors, A, Mencacci, NE, Gonzalez-Latapi, P, Kamel, WA, Al-Hashel, JY, Bustos, B, Hernandez, A, Krainc, D, Lubbe, SJ, Van Esch, H, De Luca, C, Ballon, K, Ravelli, C, Burglen, L, Qebibo, L, Calame, DG, Mitani, T, Marafi, D, Pehlivan, D, Saadi, NW, Sahin, Y, Maroofian, R, Efthymiou, S, Houlden, H, Maqbool, S, Rahman, F, Gu, S, Posey, JE, Lupski, JR, Hunter, J, Wangler, MF, Carroll, CJ, Yang, Y

المصدر: Annals of Neurology , 89 (4) pp. 828-833. (2021)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10124204/3/Efthymiou_MED27_12302020_Annals%20of%20Neurology_clean.pdf; https://discovery.ucl.ac.uk/id/eprint/10124204/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10124204/3/Efthymiou_MED27_12302020_Annals%20of%20Neurology_clean.pdf
https://discovery.ucl.ac.uk/id/eprint/10124204/

المؤلفون: Lenaerts, L, Reynhout, S, Verbinnen, I, Laumonnier, F, Toutain, A, Bonnet-Brilhault, F, Hoorne, Y, Joss, S, Chassevent, AK, Smith-Hicks, C, Loeys, B, Joset, P, Steindl, K, Rauch, A, Mehta, SG, Chung, WK, Devriendt, K, Holder, SE, Jewett, T, Baldwin, LM, Wilson, WG, Towner, S, Srivastava, S, Johnson, HF, Daumer-Haas, C, Baethmann, M, Ruiz, A, Gabau, E, Jain, V, Varghese, V, Al-Beshri, A, Fulton, S, Wechsberg, O, Orenstein, N, Prescott, K, Childs, A-M, Faivre, L, Moutton, S, Sullivan, JA, Shashi, V, Koudijs, SM, Heijligers, M, Kivuva, E, McTague, A, Male, A, van Ierland, Y, Plecko, B, Maystadt, I, Hamid, R, Hannig, VL, Houge, G, Janssens, V

المصدر: Genetics in Medicine (2020) (In press).

مصطلحات موضوعية: PPP2R1A, PP2A, intellectual disability, neurodevelopmental disorder, epilepsy

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10114644/1/s41436-020-00981-2.pdf; https://discovery.ucl.ac.uk/id/eprint/10114644/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10114644/1/s41436-020-00981-2.pdf
https://discovery.ucl.ac.uk/id/eprint/10114644/

المؤلفون: Sheppard, S.E., Bryant, L., Wickramasekara, R.N., Vaccaro, C., Robertson, B., Hallgren, J., Hulen, J., Watson, C.J., Faundes, V., Duffourd, Y., Lee, P., Simon, M.C., Cruz, X. de la, Padilla, N., Flores-Mendez, M., Akizu, N., Smiler, J., Pellegrino Da Silva, R., Li, D., March, M., Diaz-Rosado, A., Peixoto de Barcelos, I., Choa, Z.X., Lim, C.Y., Dubourg, C., Journel, H., Demurger, F., Mulhern, M., Akman, C., Lippa, N., Andrews, M., Baldridge, D., Constantino, J., Haeringen, A. van, Snoeck-Streef, I., Chow, P., Hing, A., Graham Jr, J.M., Au, M., Faivre, L., Shen, W., Mao, R., Palumbos, J., Viskochil, D., Gahl, W., Tifft, C., Macnamara, E., Hauser, N., Miller, R., Maffeo, J., Afenjar, A., Doummar, D., Keren, B., Arn, P., Macklin-Mantia, S., Meerschaut, I., Callewaert, B., Reis, A., Zweier, C., Brewer, C., Saggar, A., Smeland, M.F., Kumar, Ajith, Elmslie, F., Deshpande, C., Nizon, M., Cogne, B., Ierland, Y. van, Wilke, M., Slegtenhorst, M. van, Koudijs, S., Chen, J.Y., Dredge, D., Pier, D., Wortmann, S.B., Kamsteeg, E.J., Koch, J., Haynes, D., Pollack, L., Titheradge, H., Ranguin, K., Denommé-Pichon, A.S., Weber, S., Perez de la Fuente, R., Sanchez Del Pozo, J., Lezana Rosales, J.M., Joset, P., Steindl, K., Rauch, A., Mei, D., Mari, F., Guerrini, R., Lespinasse, J., Tran Mau-Them, F., Philippe, C., Dauriat, B., Raymond, L., Moutton, S., Cueto-González, A.M., Tan, T.Y., Mignot, C., Grotto, S., Renaldo, F., Drivas, T.G., Hennessy, L., Raper, A., Parenti, I., Kaiser, F.J., Kuechler, A., Busk, Ø.L., Islam, L., Siedlik, J.A., Henderson, L.B., Juusola, J., Person, R., Schnur, R.E., Vitobello, A., Banka, S., Bhoj, E.J., Stessman, H.A.F.

المصدر: Science Advances; 2375-2548; 10; 9; eade1463; ~Science Advances~~~~~2375-2548~10~9~~eade1463

URL: https://repository.ubn.ru.nl/handle/2066/290785

المؤلفون: Cali, E., Suri, M., Scala, M., Ferla, M.P., Alavi, S., Faqeih, E.A., Bijlsma, E.K., Wigby, K.M., Baralle, D., Mehrjardi, M.Y.V., Schwab, J., Platzer, K., Steindl, K., Hashem, M., Jones, M., Niyazov, Dmitriy, Jacober, J., Littlejohn, R.O., Weis, D., Zadeh, N., Rodan, L., Goldenberg, A., Lecoquierre, F., Dutra-Clarke, M., Horvath, G., Young, D., Orenstein, N., Bawazeer, S., Vulto-van Silfhout, A.T., Herenger, Y., Dehghani, M., Seyedhassani, S.M., Bahreini, A., Nasab, M.E., Ercan-Sencicek, A.G., Firoozfar, Z., Movahedinia, M., Efthymiou, S., Striano, P., Karimiani, E.G., Salpietro, V., Taylor, J.C., Redman, M., Stegmann, A.P.A., Laner, A., Abdel-Salam, G., Li, M., Bengala, M., Müller, A.J., Digilio, M.C., Rauch, A., Gunel, M., Titheradge, H., Schweitzer, D.N., Kraus, A., Valenzuela, I., McLean, S.D., Phornphutkul, C., Salih, M., Begtrup, A., Schnur, R.E., Torti, E., Haack, T.B., Prada, C.E., Alkuraya, F.S., Houlden, H., Maroofian, R.

المصدر: Genetics in Medicine; 135; 142; 1098-3600; 1; 25; ~Genetics in Medicine~135~142~~~1098-3600~1~25~~

URL: https://repository.ubn.ru.nl/handle/2066/290796

المؤلفون: Papuc, S.M., Abela, L., Steindl, K., Begemann, A., Simmons, T.L., Schmitt, B., Zweier, M., Oneda, B., Socher, E., Crowther, L.M., Wohlrab, G., Gogoll, L., Poms, M., Seiler, M., Papik, M., Baldinger, R., Baumer, A., Asadollahi, R., Kroell-Seger, J., Schmid, R., Iff, T., Schmitt-Mechelke, T., Otten, K., Hackenberg, A., Addor, M.C., Klein, A., Azzarello-Burri, S., Sticht, H., Joset, P., Plecko, B., Rauch, A.

المصدر: European journal of human genetics, vol. 27, no. 3, pp. 408-421

مصطلحات موضوعية: Adolescent, Adult, Child, Preschool, DNA Copy Number Variations, Epilepsy/diagnosis, Epilepsy/genetics, Exome, Female, Genes, Recessive, Humans, Infant, Male, Mutation Rate, Whole Exome Sequencing/methods

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/30552426; info:eu-repo/semantics/altIdentifier/eissn/1476-5438; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_2D0E099C90581; https://serval.unil.ch/notice/serval:BIB_2D0E099C9058; https://serval.unil.ch/resource/serval:BIB_2D0E099C9058.P001/REF.pdf

الاتاحة: https://serval.unil.ch/notice/serval:BIB_2D0E099C9058
https://doi.org/10.1038/s41431-018-0299-8
https://serval.unil.ch/resource/serval:BIB_2D0E099C9058.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_2D0E099C90581