檢索結果 - Nicola Brunetti‐Pierri
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Lathosterolosis, a Novel Multiple-Malformation/Mental Retardation Syndrome Due to Deficiency of 3β-Hydroxysteroid-Δ5-Desaturase 由 Nicola Brunetti‐Pierri, Gaetano Corso, Massimiliano Rossi, Paola Ferrari, Fiorella Balli, Francesco Rivasi, Ida Annunziata, Andrea Ballabio, Antonio Dello Russo, Generoso Andria, Giancarlo Parenti
出版 2002Artigo -
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Transcriptional gene network inference from a massive dataset elucidates transcriptome organization and gene function 由 Vincenzo Belcastro, Velia Siciliano, Francesco Gregoretti, Pratibha Mithbaokar, Gopuraja Dharmalingam, Stefania Berlingieri, Francesco Iorio, Gennaro Oliva, Roman Polishchuck, Nicola Brunetti‐Pierri, Diego di Bernardo
出版 2011Artigo -
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Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders 由 Ching Moey, Susan J. Hinze, Louise Brueton, Jenny Morton, Dominic McMullan, Benjamin Kamien, Christopher Barnett, Nicola Brunetti‐Pierri, Jillian Nicholl, Jozef Gécz, Cheryl Shoubridge
出版 2015Artigo -
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Pseudo-hydrodynamic Delivery of Helper-dependent Adenoviral Vectors into Non-human Primates for Liver-directed Gene Therapy 由 Nicola Brunetti‐Pierri, Gary Stapleton, Donna Palmer, Yu Zuo, Viraj Mane, Milton J. Finegold, Arthur L. Beaudet, M. Michelle Leland, Charles E. Mullins, Philip Ng
出版 2007Artigo -
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Enhancement of hepatic autophagy increases ureagenesis and protects against hyperammonemia 由 Leandro R. Soria, Gabriella Allegri, Dominique Melck, Nunzia Pastore, Patrizia Annunziata, Debora Paris, Elena Polishchuk, Edoardo Nusco, Beat Thöny, Andréa Motta, Johannes Häberle, Andrea Ballabio, Nicola Brunetti‐Pierri
出版 2017Artigo
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