Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies
Niceta, Marcello, Stellacci, Emilia, Gripp, Karen W, Zampino, Giuseppe, Kousi, Maria, Anselmi, Massimiliano, Traversa, Alice, Ciolfi, Andrea, Stabley, Deborah, Bruselles, Alessandro, Caputo, Viviana, Cecchetti, Serena, Prudente, Sabrina, Fiorenza, Maria T, Boitani, Carla, Philip, Nicole, Niyazov, Dmitriy, Leoni, Chiara, Nakane, Takaya, Keppler-Noreuil, Kim, Braddock, Stephen R, Gillessen-Kaesbach, Gabriele, Palleschi, Antonio, Campeau, Philippe M, Lee, Brendan H L, Pouponnot, Celio, Stella, Lorenzo, Bocchinfuso, Gianfranco, Katsanis, Nicholas, Sol-Church, Katia, Tartaglia, Marco
Published in American journal of human genetics (07.05.2015)
Published in American journal of human genetics (07.05.2015)
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Involvement of sperm acetylated histones and the nuclear isoform of Glutathione peroxidase 4 in fertilization
Pipolo, Simona, Puglisi, Rossella, Mularoni, Valentina, Esposito, Valentina, Fuso, Andrea, Lucarelli, Marco, Fiorenza, Maria T., Mangia, Franco, Boitani, Carla
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Published in Journal of cellular physiology (01.04.2018)
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Molecular cloning and expression analysis of MPPα-2, a novel mouse transcript detected in a differential screen of pituitary libraries
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Published in Biochimica et biophysica acta (19.08.2002)
Published in Biochimica et biophysica acta (19.08.2002)
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Mutations impairing GSK3-mediated MAF phosphorylationcausecataract, deafness, intellectual disability, seizures, and a Down syndrome-like facies
Niceta, Marcello, Stellacci, Emilia, Gripp, Karen W., Zampino, Giuseppe, Kousi, Maria, Anselmi, Massimiliano, Traversa, Alice, Ciolfi, Andrea, Stabley, Deborah, Bruselles, Alessandro, Caputo, Viviana, Cecchetti, Serena, Prudente, Sabrina, Fiorenza, Maria T., Boitani, Carla, Philip, Nicole, Niyazov, Dmitriy, Leoni, Chiara, Nakane, Takaya, Keppler-Noreuil, Kim, Braddock, Stephen R., Gillessen-Kaesbach, Gabriele, Palleschi, Antonio, Campeau, Philippe M., Lee, Brendan H.L., Pouponnot, Celio, Stella, Lorenzo, Bocchinfuso, Gianfranco, Katsanis, Nicholas, Sol-Church, Katia, Tartaglia, Marco
Published in American journal of human genetics
Published in American journal of human genetics
Get full text
Journal Article