Rezultati pretrage - Hengameh Abdollahpour

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  1. 1
    An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome

    An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome od Hengameh Abdollahpour, Malik Alawi, Fanny Kortüm, Michael Beckstette, E Seemanová, Vladimı́r Komárek, Georg Rosenberger, Kerstin Kutsche

    Izdano 2014
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  2. 2
    Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations

    Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations od Manuela Germeshausen, Magda Grudzien, Cornelia Zeidler, Hengameh Abdollahpour, Sevgi Yetgin, Nima Rezaei, Matthias Ballmaier, Bodo Grimbacher, Karl Welte, Christoph Klein

    Izdano 2008
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  3. 3
    The phenotype of human STK4 deficiency

    The phenotype of human STK4 deficiency od Hengameh Abdollahpour, Giridharan Appaswamy, Daniel Kotlarz, Jana Diestelhorst, Rita Beier, Alejandro A. Schäffer, E. Michael Gertz, Axel Schambach, Hans Kreipe, Dietmar Pfeifer, Karin R. Engelhardt, Nima Rezaei, Bodo Grimbacher, Sabine Lohrmann, Roya Sherkat, Christoph Klein

    Izdano 2012
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