يعرض 1 - 10 نتائج من 393 نتيجة بحث عن '"Weis, D."', وقت الاستعلام: 1.70s تنقيح النتائج
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    وصف الملف: application/pdf

    العلاقة: https://openaccess.sgul.ac.uk/id/eprint/115591/1/awad039.pdfTest; Saffari, A; Lau, T; Tajsharghi, H; Karimiani, EG; Kariminejad, A; Efthymiou, S; Zifarelli, G; Sultan, T; Toosi, MB; Sedighzadeh, S; et al. Saffari, A; Lau, T; Tajsharghi, H; Karimiani, EG; Kariminejad, A; Efthymiou, S; Zifarelli, G; Sultan, T; Toosi, MB; Sedighzadeh, S; Siu, VM; Ortigoza-Escobar, JD; AlShamsi, AM; Ibrahim, S; Al-Sannaa, NA; Al-Hertani, W; Sandra, W; Tarnopolsky, M; Alavi, S; Li, C; Day-Salvatore, D-L; Martínez-González, MJ; Levandoski, KM; Bedoukian, E; Madan-Khetarpal, S; Idleburg, MJ; Menezes, MJ; Siddharth, A; Platzer, K; Oppermann, H; Smitka, M; Collins, F; Lek, M; Shahrooei, M; Ghavideldarestani, M; Herman, I; Rendu, J; Faure, J; Baker, J; Bhambhani, V; Calderwood, L; Akhondian, J; Imannezhad, S; Mirzadeh, HS; Hashemi, N; Doosti, M; Safi, M; Ahangari, N; Torbati, PN; Abedini, S; Salpietro, V; Gulec, EY; Eshaghian, S; Ghazavi, M; Pascher, MT; Vogel, M; Abicht, A; Moutton, S; Bruel, A-L; Rieubland, C; Gallati, S; Strom, TM; Lochmüller, H; Mohammadi, MH; Alvi, JR; Zackai, EH; Keena, BA; Skraban, CM; Berger, SI; Andrew, EH; Rahimian, E; Morrow, MM; Wentzensen, IM; Millan, F; Henderson, LB; Dafsari, HS; Jungbluth, H; Gomez-Ospina, N; McRae, A; Peter, M; Veltra, D; Marinakis, NM; Sofocleous, C; Ashrafzadeh, F; Pehlivan, D; Lemke, JR; Melki, J; Benezit, A; Bauer, P; Weis, D; Lupski, JR; Senderek, J; Christodoulou, J; Chung, WK; Goodchild, R; Offiah, AC; Moreno-De-Luca, A; Suri, M; Ebrahimi-Fakhari, D; Houlden, H; Maroofian, R (2023) The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. Brain, 146 (8). pp. 3273-3288. ISSN 1460-2156 https://doi.org/10.1093/brain/awad039Test SGUL Authors: Karimiani, Ehsan Ghayoor

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    دورية أكاديمية

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

    العلاقة: https://openaccess.sgul.ac.uk/id/eprint/115315/1/1-s2.0-S1098360022009546-main.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/115315/6/1-s2.0-S1098360022009546-mmc1.xlsxTest; https://openaccess.sgul.ac.uk/id/eprint/115315/7/1-s2.0-S1098360022009546-mmc2.xlsxTest; https://openaccess.sgul.ac.uk/id/eprint/115315/8/1-s2.0-S1098360022009546-mmc3.xlsxTest; https://openaccess.sgul.ac.uk/id/eprint/115315/9/1-s2.0-S1098360022009546-mmc4.docxTest; 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.2022.09.016Test SGUL Authors: Karimiani, Ehsan Ghayoor

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    المؤلفون: Hemmelder, March H., Noordzij, M., Vart, P., Hilbrands, Luuk B, Jager, K.J., Abrahams, A.C., Arroyo, David, Battaglia, Y., Ekart, R., Mallamaci, F., Malloney, S.R., Oliveira, J., Rydzewski, A., Sridharan, S., Vogt, L., Duivenvoorden, R., Gansevoort, R.T., Franssen, C.F.M., van der Net, J.B., Essig, M., du Buf-Vereijken, P.W.G., van Ginneken, B., Maas, N., van Jaarsveld, B.C., Bemelman, Frederike, Klingenberg-Salahova, F., Heenan-Vos, F., Vervloet, Marc G., Nurmohamed, A., Abramowicz, D., Verhofstede, S., Maoujoud, O., Malfait, T., Fialova, J., Melilli, Edoardo, Favà , Alexandre, Cruzado, Josep María, Montero, Nuria, Lips, J., Krepel, H., Adilovic, H., Hengst, M., Konings, C.J.A.M., Braconnier, P., Weis, D., Gellert, R., Alferes, D.G., Radulescu, D., Zakharova, E.V., Ambuehl, P.M., Guidotti, R., Walker, A., Lepeytre, F., Rabaté, C., Rostoker, G., Marques, S., Azasevac, T., Majstorovic, G.S., Katicic, D., Dam, M.t., Krüger, T., Brzosko, S., Liakopoulos, V., Zanen, A.L., Logtenberg, S.J.J., Fricke, L., Kuryata, O., Slebe, J.J.P., Abd ElHafeez, S., Kemlin, D., van de Wetering, J., Reinders, M.E.J., Hesselink, D.A., van Gestel, J.K., Eiselt, J., Kielberger, L., El-Wakil, H.S., Verhoeven, M.A.M., Logan, I., Canal Girol, Cristina, Facundo, Carme, Ramos, Ana M., Debska-Slizien, A., Veldhuizen, N.M.H., Tigka, E., Polyzou Konsta, M.A., Panagoutsos, S., Postorino, A., Cambareri, F., Matceac, I., Nistor, I., Covic, A., Groeneveld, J.H.M., Jousma, J., Diekmann, Fritz, Oppenheimer, Federico, Blasco, Miquel, Pereira, T.A., dos Santos Junior, A.C.S., Arias Cabrales, Carlos E, Crespo, Marta, Llinà s-Mallol, Laura, Buxeda, Anna, Tà rrega, Carla Burballa, Redondo-Pachon, Dolores, Arenas Jimenez, Maria Dolores, Mendoza-Valderrey, Alberto, Martins, A.C., Mateus, C., Alvila, G., Laranjinha, I., Hofstra, J.M., Siezenga, M.A., Franco, Antonio, Castellano, Sandra, Rodríguez-Ferrero, Maria Luisa, Manzanos, S.B., Haridian Sosa Barrios, R., Lemahieu, W., Bartelet, K., Dirim, A.B., Demir, E., Sever, M.S., Turkmen, A., Åžafak, S., Hollander, D.A.M.J., Kerckhoffs, A., Büttner, S., de Vries, A.P.J., Meziyerh, S., van der Helm, D., Mallat, M., Bouwsma, H., Petruliene, K., Verberk, I., van der Sande, F.M., Christiaans, M.H.L., MohanKumar, N., Luca, M.D., Tuglular, S.Z., Kramer, A., Beerenhout, C., Luik, P.T., Kerschbaum, J., Tiefenthaler, M., Watschinger, B., Adema, A.Y., Stepanov, V.A., Zulkarnaev, A.B., Turkmen, K., Gandolfini, I., Maggiore, U., Fliedner, A., Ã…sberg, A., Mjoen, G., Miyasato, H., de Fijter, C.W.H., Mongera, N., Pini, S., de Biase, C., van de Logt, A.E., Maas, R., Lebedeva, O., Lopez, Veronica, Reichert, L.J.M., Verhave, J., Titov, D., Parshina, E.V., Zanoli, L., Marcantoni, C., van Kempen, G., van Gils-Verrij, L.E.A., Harty, J.C., Meurs, M., Myslak, M., Lentini, P., den Deurwaarder, E., Stendahl, M., Rahimzadeh, H., Schouten, M., Rychlik, I., Cabezas-Reina, Carlos Jesús, Roca, Ana Maria, Nauta, F., Sahin, I., Goffin, Eric, Kanaan, N., Labriola, L., Devresse, A., Diaz-Mareque, Anabel, Coca, Armando, de Arriba, Gabriel, Meijers, B.K.I., Naesens, M., Kuypers, D., Desschans, B., Tonnerlier, A., Wissing, K.M., Dedinska, I., Pessolano, G., Malik, S., Dounousi, E., Papachristou, E., Berger, S.P., Meijer, E., Sanders, J.S.F., Özyilmaz, A., Ponikvar, J.B., Pernat, A.M., Kovac, D., Arnol, M., Molenaar, F.M., van Zuilen, A.D., Meijvis, S.C.A., Dolmans, H., Tantisattamo, E., Esposito, P., Krzesinski, J.M., Barahira, J.D., Gallieni, M., Martin-Moreno, Paloma Leticia, Guglielmetti, G., Guzzo, G., Toapanta, Nestor, Soler, Maria José, Luik, A.J., van Kuijk, W.H.M., Stikkelbroeck, L.W.H., Hermans, M.M.H., Rimsevicius, L., Righetti, M., Islam, M., Heitink-Ter Braak, N.

    وصف الملف: application/pdf

    العلاقة: Nephrology Dialysis Transplantation; Vol. 37 Núm. 6 (january 2022), p. 1140-1151; https://ddd.uab.cat/record/282288Test; urn:10.1093/ndt/gfac008; urn:oai:ddd.uab.cat:282288; urn:scopus_id:85129660616; urn:articleid:14602385v37n6p1140; urn:pmid:35030246; urn:pmc-uid:8807277; urn:pmcid:PMC8807277; urn:oai:pubmedcentral.nih.gov:8807277

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