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1Academic Journal
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 -
2Electronic Resource
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~~
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3Academic Journal
المؤلفون: Lahrouchi, N., Postma, A.V., Salazar, C.M., Laughter, D.M. de, Tjong, F., Piherova, L., Bowling, F.Z., Zimmerman, D., Lodder, E.M., Ta-Shma, A., Perles, Z., Beekman, L., Ilgun, A., Gunst, Q., Hababa, M., Skoric-Milosavljevic, D., Stranecky, V., Tomek, V., Knijff, P. de, Leeuw, R. de, Robinson, J.Y., Burn, S.C., Mustafa, H., Ambrose, M., Moss, T., Jacober, J., Niyazov, D.M., Wolf, B., Kim, K.H., Cherny, S., Rousounides, A., Aristidou-Kallika, A., Tanteles, G., Ange-Line, B., Denomme-Pichon, A.S., Francannet, C., Ortiz, D., Haak, M.C., Harkel, A.D.J. ten, Manten, G.T.R., Dutman, A.C., Bouman, K., Magliozzi, M., Radio, F.C., Santen, G.W.E., Herkert, J.C., Brown, H.A., Elpeleg, O., Hoff, M.J.B. van den, Mulder, B., Airola, M.V., Kmoch, S., Barnett, J.V., Clur, S.A., Frohman, M.A., Bezzina, C.R.
المصدر: Journal of Clinical Investigation
وصف الملف: application/pdf
Relation: http://www.jci.org/articles/view/142148/files/pdf; lumc-id: 120550710; https://hdl.handle.net/1887/3213006