Search Results - Ladany, Hagay

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  1. 1
    OMIC-08. COMPOUND HETEROZYGOSITY OF POLE AND PMS2 LEADS TO CMMRD-LIKE PHENOTYPE- “POLYNCH” SYNDROME

    OMIC-08. COMPOUND HETEROZYGOSITY OF POLE AND PMS2 LEADS TO CMMRD-LIKE PHENOTYPE- “POLYNCH” SYNDROME by Michaeli, Orli, Ladany, Hagay, Maruvka, Yosef E, Erez, Ayelet, Shachar, Shay Ben, Izraeli, Shai, Goldberg, Yael, Toledano, Helen

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    Di‐genic inheritance of germline POLE and PMS2 pathogenic variants causes a unique condition associated with pediatric cancer predisposition

    Di‐genic inheritance of germline POLE and PMS2 pathogenic variants causes a unique condition associated with pediatric cancer predisposition by Michaeli, Orli, Ladany, Hagay, Erez, Ayelet, Ben Shachar, Shay, Izraeli, Shai, Lidzbarsky, Gabriel, Basel‐Salmon, Lina, Biskup, Saskia, Maruvka, Yosef E., Toledano, Helen, Goldberg, Yael

    Published in Clinical genetics
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    De novo STXBP1 mutation in a child with developmental delay and spasticity reveals a major structural alteration in the interface with syntaxin 1A

    De novo STXBP1 mutation in a child with developmental delay and spasticity reveals a major structural alteration in the interface with syntaxin 1A by Banne, Ehud, Falik‐Zaccai, Tzipora, Brielle, Esther, Kalfon, Limor, Ladany, Hagay, Klinger, Danielle, Schneidman‐Duhovny, Dina, Linial, Michal

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