يعرض 1 - 3 نتائج من 3 نتيجة بحث عن '"McGillivray, G. (George)"', وقت الاستعلام: 0.35s تنقيح النتائج
  1. 1
    Academic Journal
    A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3

    المؤلفون: Schepers, D. (Dorien), Tortora, G. (Giada), Morisaki, H. (Hiroko), Maccarrick, G. (Gretchen), Lindsay, M. (Mark), Liang, D. (David), Mehta, S.G. (Sarju G.), Hague, J. (Jennifer), Verhagen, J.M.A. (Judith), Laar, I.M.B.H. (Ingrid) van de, Wessels, M.W. (Marja), Detisch, Y. (Yvonne), Haelst, M.M. (Mieke) van, Baas, A.F. (Annette), Lichtenbelt, K.D. (Klaske), Braun, K. (Kees), Linde, D. (Denise) van der, Roos-Hesselink, J.W. (Jolien), McGillivray, G. (George), Meester, J. (Josephina), Maystadt, I. (Isabelle), Coucke, P. (Paul), El-Khoury, E. (Elie), Parkash, S. (Sandhya), Diness, B. (Birgitte), Risom, L. (Lotte), Scurr, I. (Ingrid), Hilhorst-Hofstee, Y. (Yvonne), Morisaki, T. (Takayuki), Richer, J. (Julie), Desir, J.P., Kempers, M.J.E. (Marlies), Rideout, A.L. (Andrea L.), Horne, G. (Gabrielle), Bennett, C. (Chris), Rahikkala, E. (Elisa), Vandeweyer, G. (Geert), Alaerts, M. (Maaike), Verstraeten, A. (Aline), Dietz, H. (Hal), Van Laer, L. (Lut), Loeys, B.L. (Bart)

    المصدر: Human Mutation

    مصطلحات موضوعية: Aneurysm, Loeys-Dietz syndrome, SMAD2, SMAD3, TGFB2, TGFB3

    وصف الملف: application/pdf

    Relation: info:eu-repo/grantAgreement/EC/ERC/309792; http://repub.eur.nl/pub/105170; urn:hdl:1765/105170

    الاتاحة: http://repub.eur.nl/pub/105170
    https://doi.org/10.1002/humu.23407

    View record in BASE

    أضف إلى المفضلة
  2. 2
    Academic Journal
    Mutations in the nuclear localization sequence of the Aristaless related homeobox; Sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division

    المؤلفون: Shoubridge, C. (Cheryl), Tan, M. (May), Fullston, T. (Tod), Cloosterman, D. (Desiree), Coman, D. (David), McGillivray, G. (George), Mancini, G.M.S. (Grazia), Kleefstra, T. (Tjitske), Gecz, J. (Jozef)

    المصدر: PathoGenetics vol. 3 no. 1

    وصف الملف: application/pdf

    Relation: http://repub.eur.nl/pub/28674; urn:hdl:1765/28674

    الاتاحة: http://repub.eur.nl/pub/28674
    https://doi.org/10.1186/1755-8417-3-1

    View record in BASE

    أضف إلى المفضلة
  3. 3
    EML1-associated brain overgrowth syndrome with ribbon-like heterotopia

    المؤلفون: Oegema, R. (Renske), McGillivray, G. (George), Leventer, R.J. (Richard), Le Moing, A.-G. (Anne-Gaëlle), Bahi-Buisson, N. (Nadia), Barnicoat, A. (Angela), Mandelstam, S. (Simone), Francis, D. (David), Francis, F. (Fiona), Mancini, G.M.S. (Grazia), Savelberg, S.M.C. (Sanne M.C.), Haaften, G. (Gijs) van, Mankad, K. (Kshitij), Leguin, M. (Maarten)

    المصدر: American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

    مصطلحات موضوعية: EML1, gray matter heterotopia, hydrocephalus, megalencephaly, polymicrogyria, ribbon-like heterotopia

    وصف الملف: application/pdf

    Relation: http://repub.eur.nl/pub/121778; urn:hdl:1765/121778

    الاتاحة: http://repub.eur.nl/pub/121778
    https://doi.org/10.1002/ajmg.c.31751

    View record in BASE

    أضف إلى المفضلة
أدوات البحث: أحصل على تغذية RSS – أرسل هذا البحث بالبريد الإلكتروني – حفظ البحث – جدول التنبيهات: لا شيء