Search Results - Jamsheer Aleksander

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  1. 1
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    Isolated brachydactyly type E caused by a <it>HOXD13 </it>nonsense mutation: a case report by Jamsheer Aleksander, Sowińska Anna, Kaczmarek Leszek, Latos-Bieleńska Anna

    Published 2012
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    Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3 by Jamsheer Aleksander, Sowińska Anna, Simon Dorota, Jamsheer-Bratkowska Małgorzata, Trzeciak Tomasz, Latos-Bieleńska Anna

    Published 2013
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    Osteopoikilosis and multiple exostoses caused by novel mutations in <it>LEMD3 </it>and <it>EXT1 </it>genes respectively - coincidence within one family by Horn Denise, Kolanczyk Mateusz, Jamsheer Aleksander, Baasanjav Sevjidmaa, Latos Tomasz, Hoffmann Katrin, Latos-Bielenska Anna, Mundlos Stefan

    Published 2010
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