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1Academic Journal
المؤلفون: Barwick, KES, Wright, J, Al-Turki, S, McEntagart, MM, Nair, A, Chioza, B, Al-Memar, A, Modarres, H, Reilly, MM, Dick, KJ, Ruggiero, AM, Blakely, RD, Hurles, ME, Crosby, AH
المصدر: AMERICAN JOURNAL OF HUMAN GENETICS , 91 (6) 1103 - 1107. (2012)
وصف الملف: application/pdf
Relation: https://discovery.ucl.ac.uk/id/eprint/1399232/1/1399232.pdf; https://discovery.ucl.ac.uk/id/eprint/1399232/
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2Book
المؤلفون: Auer-Grumbach M, Olschewski A, Papic L, Kremer H, McEntagart ME, Uhrig S, Fischer C, Frohlich E, Baliant Z, Tang B, Strohmaier H, Lochmuller H, Schlotter-Weigel B, Senderek J, Krebs A, Dick KJ, Petty R, Longman C, Anderson NE, Padberg GW, Schelhaas HJ, van Ravenswaaji-Arts CM
المصدر: Nature Genetics, 27-12-2009
Relation: https://eprints.ncl.ac.uk/157257
الاتاحة: https://eprints.ncl.ac.uk/157257
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3Academic Journal
المؤلفون: Auer-Grumbach, M, Olschewski, A, Papić, L, Kremer, H, McEntagart, ME, Uhrig, S, Fischer, C, Fröhlich, E, Bálint, Z, Tang, B, Strohmaier, H, Lochmüller, H, Schlotter-Weigel, B, Senderek, J, Krebs, A, Dick, KJ, Petty, R, Longman, C, Anderson, NE, Padberg, GW, Schelhaas, HJ, van Ravenswaaij-Arts, CM, Pieber, TR, Crosby, AH, Guelly, C
Relation: Auer-Grumbach, M; Olschewski, A; Papić, L; Kremer, H; McEntagart, ME; Uhrig, S; Fischer, C; Fröhlich, E; Bálint, Z; Tang, B; et al. Auer-Grumbach, M; Olschewski, A; Papić, L; Kremer, H; McEntagart, ME; Uhrig, S; Fischer, C; Fröhlich, E; Bálint, Z; Tang, B; Strohmaier, H; Lochmüller, H; Schlotter-Weigel, B; Senderek, J; Krebs, A; Dick, KJ; Petty, R; Longman, C; Anderson, NE; Padberg, GW; Schelhaas, HJ; van Ravenswaaij-Arts, CM; Pieber, TR; Crosby, AH; Guelly, C (2010) Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. NATURE GENETICS, 42 (2). 160 - U96 (7). ISSN 1061-4036 https://doi.org/10.1038/ng.508 SGUL Authors: Crosby, Andrew Harry McEntagart, Meriel