Výsledky vyhledávání - Egill Briem
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Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase- A Autor Giovanfrancesco Ferrari, Eleonora Lamantea, Alice Donati, Massimiliano Filosto, Egill Briem, Franco Carrara, Rossella Parini, Alessandro Simonati, René Santer, Massimo Zeviani
Vydáno 2005Artigo -
2
ETHE1 mutations are specific to ethylmalonic encephalopathy Autor 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
Vydáno 2005Artigo -
3
Ethylmalonic Encephalopathy Is Caused by Mutations in ETHE1, a Gene Encoding a Mitochondrial Matrix Protein Autor 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
Vydáno 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 Autor 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
Vydáno 2004Artigo