检索结果 - Egill Briem
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Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase- A 由 Giovanfrancesco Ferrari, Eleonora Lamantea, Alice Donati, Massimiliano Filosto, Egill Briem, Franco Carrara, Rossella Parini, Alessandro Simonati, René Santer, Massimo Zeviani
出版 2005Artigo -
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ETHE1 mutations are specific to ethylmalonic encephalopathy 由 Valeria Tiranti, Egill Briem, Eleonora Lamantea, Rossana Mineri, Elena Papaleo, Luca De Gioia, Fabio Forlani, Piero Rinaldo, Patricia Dickson, Bassam Abu‐Libdeh, L Cindro-Heberle, M Owaidha, Rhona M. Jack, E. Christensen, Alberto Burlina, Massimo Zeviani
出版 2005Artigo -
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Ethylmalonic Encephalopathy Is Caused by Mutations in ETHE1, a Gene Encoding a Mitochondrial Matrix Protein 由 Valeria Tiranti, Pio D’Adamo, Egill Briem, Giovanfrancesco Ferrari, Rossana Mineri, Eleonora Lamantea, Hanna Mandel, Paolo Balestri, María Teresa García‐Silva, Brigitte Vollmer, Piero Rinaldo, Si Houn Hahn, James Leonard, Shamima Rahman, Carlo Dionisi‐Vici, Barbara Garavaglia, Paolo Gasparini, Massimo Zeviani
出版 2004Artigo -
4
The Molecular Dissection of mtDNA Haplogroup H Confirms That the Franco-Cantabrian Glacial Refuge Was a Major Source for the European Gene Pool 由 Alessandro Achilli, Chiara Rengo, Chiara Magri, Vincenza Battaglia, Anna Olivieri, Rosaria Scozzari, Fulvio Cruciani, Massimo Zeviani, Egill Briem, Valério Carelli, Pedro Moral, Jean-Michel Dugoujon, Urmas Roostalu, Eva‐Liis Loogväli, Toomas Kivisild, Hans-Jürgen Bandelt, Martin Richards, Richard Villems, A. Silvana Santachiara‐Benerecetti, Ornella Semino, Antonio Torroni
出版 2004Artigo