Rezultati - Natascia Malerba

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  1. 1
    Dissecting KMT2D missense mutations in Kabuki syndrome patients

    Dissecting KMT2D missense mutations in Kabuki syndrome patients od Dario Cocciadiferro, Bartolomeo Augello, Pasquelena De Nittis, Jiyuan Zhang, Barbara Mandriani, Natascia Malerba, Gabriella Maria Squeo, Alessandro Romano, Barbara Piccinni, Tiziano Verri, Lucia Micale, Laura Pasqualucci, Giuseppe Merla

    Izdano 2018
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  2. 2
    TRIM50 regulates Beclin 1 proautophagic activity

    TRIM50 regulates Beclin 1 proautophagic activity od Carmela Fusco, Barbara Mandriani, Martina Di Rienzo, Lucia Micale, Natascia Malerba, Dario Cocciadiferro, Eva Sjøttem, Bartolomeo Augello, Gabriella Maria Squeo, Maria Teresa Pellico, Ashish Jain, Terje Johansen, Gian María Fimia, Giuseppe Merla

    Izdano 2018
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  3. 3
    Dosage analysis of the 7q11.23 Williams region identifies <i>BAZ1B</i> as a major human gene patterning the modern human face and underlying self-domestication

    Dosage analysis of the 7q11.23 Williams region identifies <i>BAZ1B</i> as a major human gene patterning the modern human face and underlying self-domestication od Matteo Zanella, Alessandro Vitriolo, Alejandro Andirkó, Pedro Tiago Martins, Stefanie Sturm, Thomas O’Rourke, Magdalena Laugsch, Natascia Malerba, Adrianos Skaros, Sebastiano Trattaro, Pierre‐Luc Germain, Marija Mihailovic, Giuseppe Merla, Álvaro Rada-Iglesias, Cédric Boeckx, Giuseppe Testa

    Izdano 2019
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  4. 4
    The epileptology of GNB5 encephalopathy

    The epileptology of GNB5 encephalopathy od Gemma Poke, Chontelle King, Alison M. Muir, Guillem de Valles‐Ibáñez, Michele Germano, Carolina Fischinger Moura de Souza, Jasmine Lee‐Fong Fung, Brian Hon‐Yin Chung, Cheuk Wing Fung, Cyril Mignot, Adina Iléa, Boris Keren, Anne‐Isabelle Vermersch, Suzanne L. Davis, Thorsten Stanley, Mahendranath Moharir, Pekka Kannus, Zhuo Shao, Natascia Malerba, Giuseppe Merla, Heather C. Mefford, Ingrid E. Scheffer, Lynette G. Sadleir

    Izdano 2019
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  5. 5
    GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability

    GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability od Elisabeth M. Lodder, Pasquelena De Nittis, Charlotte D. Koopman, Wojciech Wiszniewski, Carolina Fischinger Moura de Souza, Najim Lahrouchi, Nicolas Guex, Valerio Napolioni, Federico Tessadori, Leander Beekman, Eline A. Nannenberg, Lamiae Boualla, Nico A. Blom, Wim de Graaff, Maarten Kamermans, Dario Cocciadiferro, Natascia Malerba, Barbara Mandriani, Zeynep H. Coban Akdemir, Richard J. Fish, Mohammad K. Eldomery, Ilham Ratbi, Arthur A.M. Wilde, Teun P. de Boer, William F. Simonds, Marguerite Neerman‐Arbez, V. Reid Sutton, Fernando Kok, James R. Lupski, Alexandre Reymond, Connie R. Bezzina, Jeroen Bakkers, Giuseppe Merla

    Izdano 2016
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