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Your search keyword '"Giurgea, Irina"' showing total 5 results
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5 results on '"Giurgea, Irina"'

1. Novel comprehensive diagnostic strategy in Pitt–Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum

Author

Whalen, Sandra, Héron, Delphine, Gaillon, Thierry, Moldovan, Oana, Rossi, Massimiliano, Devillard, Françoise, Giuliano, Fabienne, Soares, Gabriela, Mathieu-Dramard, Michelle, Afenjar, Alexandra, Charles, Perrine, Mignot, Cyril, Burglen, Lydie, Van Maldergem, Lionel, Piard, Juliette, Aftimos, Salim, Mancini, Grazia, Dias, Patricia, Philip, Nicole, Goldenberg, Alice, Le Merrer, Martine, Rio, Marlène, Josifova, Dragana, Van Hagen, Johanna Maria, Lacombe, Didier, Edery, Patrick, Dupuis-Girod, Sophie, Putoux, Audrey, Sanlaville, Damien, Fischer, Richard, Drévillon, Loïc, Briand-Suleau, Audrey, Metay, Corinne, Goossens, Michel, Amiel, Jeanne, Jacquette, Aurelia, and Giurgea, Irina

Published
2012
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2. TCF4 Deletions in Pitt-Hopkins Syndrome

Author

Giurgea, Irina, Missirian, Chantal, Cacciagli, Pierre, Whalen, Sandra, Fredriksen, Tessa, Gaillon, Thierry, Rankin, Julia, Mathieu-Dramard, Michele, Morin, Gilles, Martin-Coignard, Dominique, Dubourg, Christèle, Chabrol, Brigitte, Arfi, Jacqueline, Giuliano, Fabienne, Lambert, Jean Claude, Philip, Nicole, Sarda, Pierre, Villard, Laurent, Goossens, Michel, and Moncla, Anne

Published
2008
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3. Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum

Author

Whalen, Sandra, primary, Héron, Delphine, additional, Gaillon, Thierry, additional, Moldovan, Oana, additional, Rossi, Massimiliano, additional, Devillard, Françoise, additional, Giuliano, Fabienne, additional, Soares, Gabriela, additional, Mathieu-Dramard, Michelle, additional, Afenjar, Alexandra, additional, Charles, Perrine, additional, Mignot, Cyril, additional, Burglen, Lydie, additional, Van Maldergem, Lionel, additional, Piard, Juliette, additional, Aftimos, Salim, additional, Mancini, Grazia, additional, Dias, Patricia, additional, Philip, Nicole, additional, Goldenberg, Alice, additional, Le Merrer, Martine, additional, Rio, Marlène, additional, Josifova, Dragana, additional, Van Hagen, Johanna Maria, additional, Lacombe, Didier, additional, Edery, Patrick, additional, Dupuis-Girod, Sophie, additional, Putoux, Audrey, additional, Sanlaville, Damien, additional, Fischer, Richard, additional, Drévillon, Loïc, additional, Briand-Suleau, Audrey, additional, Metay, Corinne, additional, Goossens, Michel, additional, Amiel, Jeanne, additional, Jacquette, Aurelia, additional, and Giurgea, Irina, additional

Published
2011
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4. TCF4Deletions in Pitt-Hopkins Syndrome

Author

Giurgea, Irina, primary, Missirian, Chantal, additional, Cacciagli, Pierre, additional, Whalen, Sandra, additional, Fredriksen, Tessa, additional, Gaillon, Thierry, additional, Rankin, Julia, additional, Mathieu-Dramard, Michele, additional, Morin, Gilles, additional, Martin-Coignard, Dominique, additional, Dubourg, Christèle, additional, Chabrol, Brigitte, additional, Arfi, Jacqueline, additional, Giuliano, Fabienne, additional, Claude Lambert, Jean, additional, Philip, Nicole, additional, Sarda, Pierre, additional, Villard, Laurent, additional, Goossens, Michel, additional, and Moncla, Anne, additional

Published
2008
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5. Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy

Author

Bénit, Paule, primary, Beugnot, Réjane, additional, Chretien, Dominique, additional, Giurgea, Irina, additional, De Lonlay-Debeney, Pascale, additional, Issartel, Jean-Paul, additional, Corral-Debrinski, Marisol, additional, Kerscher, Stefan, additional, Rustin, Pierre, additional, Rötig, Agnès, additional, and Munnich, Arnold, additional

Published
2003
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