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  1. 1
    A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers

    A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers von Geroldi, Alessandro, Tozza, Stefano, Fiorillo, Chiara, Nolano, Maria, Fossa, Paola, Vitale, Floriana, Domi, Regi, Gaudio, Andrea, Mammi, Alessia, Patrone, Serena, Barbera, Andrea La, Origone, Paola, Ponti, Clarissa, Sanguineri, Francesca, Zara, Federico, Cataldi, Matteo, Salpietro, Vincenzo, Venturi, Consuelo Barbara, Massucco, Sara, Schenone, Angelo, Manganelli, Fiore, Mandich, Paola, Bellone, Emilia, Gotta, Fabio


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  2. 2
    A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers

    A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers von Geroldi, Alessandro, Tozza, Stefano, Fiorillo, Chiara, Nolano, Maria, Fossa, Paola, Vitale, Floriana, Domi, Regi, Gaudio, Andrea, Mammi, Alessia, Patrone, Serena, Barbera, Andrea La, Origone, Paola, Ponti, Clarissa, Sanguineri, Francesca, Zara, Federico, Cataldi, Matteo, Salpietro, Vincenzo, Venturi, Consuelo Barbara, Massucco, Sara, Schenone, Angelo, Manganelli, Fiore, Mandich, Paola, Bellone, Emilia, Gotta, Fabio


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  3. 3
    The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells

    The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells von Palmisano, Ilaria, Bagnato, Paola, Palmigiano, Angela, Innamorati, Giulio, Rotondo, Giuseppe, Altimare, Domenico, Venturi, Consuelo, Sviderskaya, Elena V., Piccirillo, Rosanna, Coppola, Massimiliano, Marigo, Valeria, Incerti, Barbara, Ballabio, Andrea, Surace, Enrico M., Tacchetti, Carlo, Bennett, Dorothy C., Schiaffino, Maria Vittoria

    Veröffentlicht in Human molecular genetics

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  4. 4
    The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells

    The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells von Palmisano, Ilaria, Bagnato, Paola, Palmigiano, Angela, Innamorati, Giulio, Rotondo, Giuseppe, Altimare, Domenico, Venturi, Consuelo, Sviderskaya, Elena V, Piccirillo, Rosanna, Coppola, Massimiliano, Marigo, Valeria, Incerti, Barbara, Ballabio, Andrea, Surace, Enrico M, Tacchetti, Carlo, Bennett, Dorothy C, Schiaffino, Maria Vittoria

    Veröffentlicht in Human molecular genetics

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