يعرض 71 - 80 نتائج من 194 نتيجة بحث عن '"Kjaergaard, Susanne"', وقت الاستعلام: 0.86s تنقيح النتائج
  1. 71
    دورية أكاديمية
    Microdeletion in distal 17p13.1: A recognizable phenotype with microcephaly, distinctive facial features, and intellectual disability.

    المؤلفون: Zeesman, Susan, Kjaergaard, Susanne, Hove, Hanne D., Kirchhoff, Maria, Stevens, Jadd M., Nowaczyk, Małgorzata J.M.

    المصدر: American Journal of Medical Genetics. Part A; Aug2012, Vol. 158A Issue 8, p1832-1836, 5p


    أضف إلى المفضلة
  2. 72
    دورية أكاديمية
    Screening of 1331 Danish breast and/or ovarian cancer families identified 40 novel BRCA1 and BRCA2 mutations.

    المؤلفون: Hansen, Thomas, Jønson, Lars, Steffensen, Ane, Andersen, Mette, Kjaergaard, Susanne, Gerdes, Anne-Marie, Ejlertsen, Bent, Nielsen, Finn

    المصدر: Familial Cancer; Jun2011, Vol. 10 Issue 2, p207-212, 6p


    أضف إلى المفضلة
  3. 73
    دورية أكاديمية
    Serum Levels of Anti-Müllerian Hormone as a Marker of Ovarian Function in 926 Healthy Females from Birth to Adulthood and in 172 Turner Syndrome Patients.

    المؤلفون: Hagen, Casper P., Aksglaede, Lise, Sørensen, Kaspar, Boas, Malene, Cleemann, Line, Holm, Kirsten, Gravholt, Claus H., Andersson, Anna-Maria, Pedersen, Anette T., Petersen, Jørgen Holm, Linneberg, Allan, Kjaergaard, Susanne, Juul, Anders, Main, Katharina M.

    المصدر: Journal of Clinical Endocrinology & Metabolism; Nov 2010, Vol. 95 Issue 11, p5003-5010, 8p, 3 Charts, 3 Graphs

    النص الكامل

    أضف إلى المفضلة
  4. 74
    دورية أكاديمية
    Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/ TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations.

    المؤلفون: Rendtorff, Nanna D., Bjerregaard, Bolette, Frödin, Morten, Kjaergaard, Susanne, Hove, Hanne, Skovby, Flemming, Brøndum-Nielsen, Karen, Schwartz, Marianne

    المصدر: Human Mutation; Oct2005, Vol. 26 Issue 4, p374-383, 10p

    النص الكامل

    أضف إلى المفضلة
  5. 75
    دورية أكاديمية
    Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia ( SPG4) using direct mutation detection.

    المؤلفون: Nielsen, Jørgen E., Koefoed, Pernille, Kjaergaard, Susanne, Jensen, Lisa Neerup, Nørremølle, Anne, Hasholt, Lis

    المصدر: Prenatal Diagnosis; May2004, Vol. 24 Issue 5, p363-366, 4p


    أضف إلى المفضلة
  6. 76
    دورية أكاديمية
    Ophthalmic manifestations of congenital disorder of glycosylation type 1a.

    المؤلفون: Jensen, Hanne, Kjaergaard, Susanne, Klie, Flemming, Moller, H.U.

    المصدر: Ophthalmic Genetics. Jun2003, Vol. 24 Issue 2, p81. 8p.

    مصطلحات موضوعية: *REFRACTIVE errors, *VISION disorders, *VISUAL accommodation, *MYOPIA, *VISUAL acuity


    أضف إلى المفضلة
  7. 77
    دورية أكاديمية
    A frequent mild mutation in ALG6 may exacerbate the clinical severity of patientswith congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutasedeficiency.

    المؤلفون: Westphal, Vibeke, Kjaergaard, Susanne, Schollen, Els, Martens, Kevin, Grunewald, Stephanie, Schwartz, Marianne, Matthijs, Gert, Freeze, Hudson H.

    المصدر: Human Molecular Genetics; Mar2002, Vol. 11 Issue 5, p599-604, 6p

    النص الكامل

    أضف إلى المفضلة
  8. 78
    دورية أكاديمية
    Recurrent fetal polycystic kidneys associated with glutaric aciduria type II.

    المؤلفون: KJAERGAARD, SUSANNE, GRAEM, NIELS, LARSEN, TORBEN, SKOVBY, FLEMMING

    المصدر: APMIS; 1998, Vol. 106 Issue 7-12, p1188-1193, 6p


    أضف إلى المفضلة
  9. 79
    دورية
    Increased number of sex chromosomes affects height in a nonlinear fashion: A study of 305 patients with sex chromosome aneuploidyAnne Marie Ottesen and Lise Aksglaede contributed equally to this work.How to cite this article: Ottesen AM, Aksglaede L, Garn I, Tartaglia N, Tassone F, Gravholt CH, Bojesen A, Sørensen K, Jørgensen N, RajpertDe Meyts E, Gerdes T, Lind AM, Kjaergaard S, Juul A. 2010. Increased number of sex chromosomes affects height in a nonlinear fashion: A study of 305 patients with sex chromosome aneuploidy. Am J Med Genet Part A 152A:1206–1212.

    المؤلفون: Ottesen, Anne Marie, Aksglaede, Lise, Garn, Inger, Tartaglia, Nicole, Tassone, Flora, Gravholt, Claus H., Bojesen, Anders, Sørensen, Kaspar, Jørgensen, Niels, RajpertDe Meyts, Ewa, Gerdes, Tommy, Lind, AnneMarie, Kjaergaard, Susanne, Juul, Anders

    المصدر: American Journal of Medical Genetics. Part A; May 2010, Vol. 152 Issue: 5 p1206-1212, 7p


    أضف إلى المفضلة
  10. 80
    دورية
    Recurrent deletion of ZNF630at Xp11.23 is not associated with mental retardationHow to cite this article: Lugtenberg D, ZangrandeVieira L, Kirchhoff M, Whibley AC, Oudakker AR, Kjaergaard S, ViannaMorgante AM, Kleefstra T, Ruiter M, Jehee FS, Ullmann R, Schwartz CE, Stratton M, Raymond FL, Veltman JA, Vrijenhoek T, Pfundt R, SchuursHoeijmakers JHM, HehirKwa JY, Froyen G, Chelly J, Ropers HH, Moraine C, Gècz J, Knijnenburg J, Kant SG, Hamel BCJ, Rosenberg C, van Bokhoven H, de Brouwer APM. 2010. Recurrent deletion of ZNF630at Xp11.23 is not associated with mental retardation. Am J Med Genet Part A 152A:638–645.

    المؤلفون: Lugtenberg, Dorien, ZangrandeVieira, Luiz, Kirchhoff, Maria, Whibley, Annabel C., Oudakker, Astrid R., Kjaergaard, Susanne, ViannaMorgante, Angela M., Kleefstra, Tjitske, Ruiter, Mariken, Jehee, Fernanda S., Ullmann, Reinhard, Schwartz, Charles E., Stratton, Michael, Raymond, F. Lucy, Veltman, Joris A., Vrijenhoek, Terry, Pfundt, Rolph, SchuursHoeijmakers, Janneke H.M., HehirKwa, Jayne Y., Froyen, Guy, Chelly, Jamel, Ropers, Hans Hilger, Moraine, Claude, Gècz, Jozef, Knijnenburg, Jeroen, Kant, Sarina G., Hamel, Ben C.J., Rosenberg, Carla, van Bokhoven, Hans, de Brouwer, Arjan P.M.

    المصدر: American Journal of Medical Genetics. Part A; March 2010, Vol. 152 Issue: 3 p638-645, 8p


    أضف إلى المفضلة
أدوات البحث: أحصل على تغذية RSS — أرسل هذا البحث بالبريد الإلكتروني — حفظ البحث