Search Results - Pandelia, Efthimia

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  1. 1
    Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population

    Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population by Bugiani, Marianna, Gyftodimou, Yolanda, Tsimpouka, Paraskevi, Lamantea, Eleonora, Katzaki, Eleni, d'Adamo, Pio, Nakou, Sheena, Georgoudi, Nelli, Grigoriadou, Maria, Tsina, Efthymia, Kabolis, Nikolaos, Milani, Donatella, Pandelia, Efthimia, Kokotas, Haris, Gasparini, Paolo, Giannoulia-Karantana, Aglaia, Renieri, Alessandra, Zeviani, Massimo, Petersen, Michael B.

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    Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at locus DFNA36-DFNB7/11: Four novel

    Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at locus DFNA36-DFNB7/11: Four novel by Hilgert, Nele, Alasti, Fatemeh, Dieltjens, Nele, Pawlik, Barbara, Wollnik, Bernd, Uyguner, Oya, Delmaghani, Sedigheh, Weil, Dominique, Petit, Christine, Danis, Evi, Yang, Tao, Pandelia, Efthimia, Petersen, Michael B., Goossens, Dirk, Favero, Jurgen Del, Sanati, Mohammad Hossein, Smith, Richard JH, Van Camp, Guy

    Published in Clinical genetics
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