Treffer 1 - 7 von 7 für Suche 'Karbasiyan, M', Suchdauer: 0,46s Treffer weiter einschränken
  1. 1
    Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP

    Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP von ROPERS, Fabienne, DERIVERY, Emmanuel, VARON, Raymonda, RAJAB, Anna, HAO HU, GARSHASBI, Masoud, KARBASIYAN, Mohsen, HEROLD, Martin, NÜRNBERG, Gudrun, ULLMANN, Reinhard, GAUTREAU, Alexis, SPERLING, Karl

    Veröffentlicht in Human molecular genetics

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  2. 2
    Spectrum of mutations and genotype-phenotype analysis in Currarino syndrome

    Spectrum of mutations and genotype-phenotype analysis in Currarino syndrome von Köchling, J, Karbasiyan, M, Reis, A


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  3. 3
    Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B

    Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B von Bittner, Reginald E., Anderson, Louise V.B., Burkhardt, Elke, Bashir, Rumaisa, Vafiadaki, Elizabeth, Ivanova, Silva, Raffelsberger, Thomas, Maerk, Isabel, Höger, Harald, Jung, Martin, Karbasiyan, Mohsen, Storch, Maria, Lassmann, Hans, Moss, Jennifer A., Davison, Keith, Harrison, Ruth, Bushby, Kate M.D., Reis, André

    Veröffentlicht in Nature genetics

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  4. 4
    Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome

    Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome von HENNIES, Hans Christian, RAUCH, Anita, GIUGLIANI, Roberto, NEUMANN, Thomas E, ECKL, Katja M, KARBASIYAN, Mohsen, REIS, André, HORN, Denise, SEIFERT, Wenke, SCHUMI, Christian, MOSER, Elisabeth, AL-TAJI, Eva, TARIVERDIAN, Gholamali, CHRZANOWSKA, Krystyna H, KRAJEWSKA-WALASEK, Malgorzata, RAJAB, Anna


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  5. 5
    Hirschsprung's disease accompanied by cephalgia and lumbodynia: an adult index patient with Currarino syndrome due to the novel mutation HLXB9 c.336insG

    Hirschsprung's disease accompanied by cephalgia and lumbodynia: an adult index patient with Currarino syndrome due to the novel mutation HLXB9 c.336insG von Volk, A., Karbasiyan, M., Urbach, H., Klockgether, T., Linnebank, M.


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  6. 6
    Allelic Heterogeneity in the COH1 Gene Explains Clinical Variabilityin Cohen Syndrome

    Allelic Heterogeneity in the COH1 Gene Explains Clinical Variabilityin Cohen Syndrome von Hennies, Hans Christian, Rauch, Anita, Seifert, Wenke, Schumi, Christian, Moser, Elisabeth, Al-Taji, Eva, Tariverdian, Gholamali, Chrzanowska, Krystyna H., Krajewska-Walasek, Malgorzata, Rajab, Anna, Giugliani, Roberto, Neumann, Thomas E., Eckl, Katja M., Karbasiyan, Mohsen, Reis, André, Horn, Denise


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  7. 7
    Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome

    Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome von Hennies, Hans Christian, Rauch, Anita, Seifert, Wenke, Schumi, Christian, Moser, Elisabeth, Al-Taji, Eva, Tariverdian, Gholamali, Chrzanowska, Krystyna h, Krajewska-Walasek, Malgorzata, Rajab, Anna, Giugliani, Roberto, Neumann, Thomas e, Eckl, Katja m, Karbasiyan, Mohsen, Reis, André, Horn, Denise


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