학술논문
'학술논문'
에서 검색결과 41건 | 목록
1~10
Academic Journal
Thomas, Quentin; Gautier, Thierry; Marafi, Dana; Besnard, Thomas; Willems, Marjolaine; Moutton, Sébastien; Isidor, Bertand; Cogné, Benjamin; Conrad, Solène; Tenconi, Romano; Iascone, Maria; Sorlin, Arthur; Masurel, Alice; Dabir, Tabib; Jackson, Adam; Banka, Siddharth; Delanne, Julian; Lupski, James R.; Saadi, Nebal Waill; Alkuraya, Fowzan S.; Zahrani, Fatema Al; Agrawal, Pankaj B. ; England, Eleina ; Madden, Jill A. ; Posey, Jennifer E. ; Burglen, Lydie ; Rodriguez, Diana ; Chevarin, Martin; Nguyen, Sylvie; Mau-Them, Frédéric Tran; Duffourd, Yannis; Garret, Philippine; Bruel, Ange-Line; Callier, Patrick; Marle, Nathalie; Denomme-Pichon, Anne-Sophie; Duplomb, Laurence; Philippe, Christophe; Thauvin-Robinet, Christel ; Govin, Jérôme; Faivre, Laurence; Vitobello, Antonio
In Genetics in Medicine October 2021 23(10):1901-1911
Periodical
Racine, Caroline; Denommé-Pichon, Anne-Sophie; Engel, Camille; Tran Mau-them, Frederic; Bruel, Ange-Line; Vitobello, Antonio; Safraou, Hana; Sorlin, Arthur; Nambot, Sophie; Delanne, Julian; Garde, Aurore; Colin, Estelle; Moutton, Sébastien; Thevenon, Julien; Jean-Marcais, Nolwenn; Willems, Marjolaine; Geneviève, David; Pinson, Lucile; Perrin, Laurence; Laffargue, Fanny; Lespinasse, James; Lacaze, Elodie; Molin, Arnaud; Gerard, Marion; Lambert, Laetitia; Benigni, Charlotte; Patat, Olivier; Bourgeois, Valentin; Poe, Charlotte; Chevarin, Martin; Couturier, Victor; Garret, Philippine; Philippe, Christophe; Duffourd, Yannis; Faivre, Laurence; Thauvin-Robinet, Christel
Journal of Medical Genetics (JMG); 2024, Vol. 61 Issue: 1 p36-46, 11p
Academic Journal
Thomas, Quentin; Vitobello, Antonio; Mau-Them, Frédéric Tran; Duffourd, Yannis; Fromont, Agnès; Giroud, Maurice; Daubail, Benoit; Jacquin-Piques, Agnès; Hervieu-Begue, Marie; Moreau, Thibault; Osseby, Guy-Victor; Garret, Philippine; Nambot, Sophie; Delanne, Julian; Bruel, Ange-Line; Sorlin, Arthur; Callier, Patrick; Denomme-Pichon, Anne-Sophie; Faivre, Laurence; Béjot, Yannick; Philippe, Christophe; Thauvin-Robinet, Christelle; Moutton, Sébastien
In Journal of the Neurological Sciences October 2021 429 Supplement
A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohort
Periodical
Garret, Philippine; Chevarin, Martin; Vitobello, Antonio; Verdez, Simon; Fournier, Cyril; Verloes, Alain; Tisserant, Emilie; Vabres, Pierre; Prevel, Orlane; Philippe, Christophe; Denommé-Pichon, Anne-Sophie; Bruel, Ange-Line; Mau-Them, Frédéric Tran; Safraou, Hana; Boughalem, Aïcha; Costa, Jean-Marc; Trost, Detlef; Thauvin-Robinet, Christel; Faivre, Laurence; Duffourd, Yannis
European Journal of Human Genetics: EJHG; July 2023, Vol. 31 Issue: 7 p761-768, 8p
Academic Journal
Racine, Caroline; Denomme-Pichon, Anne-Sophie; Engel, Camille; Mau-them, Frederic Tran; Bruel, Ange-Line; Vitobello, Antonio; Safraou, Hana; Sorlin, Arthur; Nambot, Sophie; Delanne, Julian; Garde, Aurore; Colin, Estelle; Moutton, Sebastien; Thevenon, Julien; Jean-Marcais, Nolwenn; Willems, Marjolaine; Genevieve, David; Pinson, Lucile; Perrin, Laurence; Laffargue, Fanny; Lespinasse, James; Lacaze, Elodie; Molin, Arnaud; Gerard, Marion; Lambert, Laetitia; Benigni, Charlotte; Patat, Olivier; Orphanomix Phys Grp, Martin; Bourgeois, Valentin; Poe, Charlotte; Chevarin, Martin; Couturier, Victor; Garret, Philippine; Philippe, Christophe; Duffourd, Yannis; Faivre, Laurence; Thauvin-Robinet, Christel
Periodical
Verdez, Simon; Thomas, Quentin; Garret, Philippine; Verstuyft, Céline; Tisserant, Emilie; Vitobello, Antonio; Mau-Them, Frédéric Tran; Philippe, Christophe; Bardou, Marc; Luu, Maxime; Bourredjem, Abderrahmane; Callier, Patrick; Thauvin-Robinet, Christel; Picard, Nicolas; Faivre, Laurence; Duffourd, Yannis
The Pharmacogenomics Journal; December 2022, Vol. 22 Issue: 5-6 p258-263, 6p
Academic Journal
Thomas, Quentin; Vitobello, Antonio; Mau-Them, Frederic Tran; Duffourd, Yannis; Fromont, Agnès; Giroud, Maurice; Daubail, Benoit; Jacquin-Piques, Agnès; Hervieu-Begue, Marie; Moreau, Thibault; Osseby, Guy-Victor; Garret, Philippine; Nambot, Sophie; Delanne, Julian; Bruel, Ange-Line; Sorlin, Arthur; Callier, Patrick; Denomme-Pichon, Anne-Sophie; Faivre, Laurence; Béjot, Yannick
Journal of Medical Genetics; May2022, Vol. 59 Issue 5, p445-452, 8p
Periodical
Denommé-Pichon, Anne-Sophie; Vitobello, Antonio; Olaso, Robert; Ziegler, Alban; Jeanne, Médéric; Tran Mau-Them, Frédéric; Couturier, Victor; Racine, Caroline; Isidor, Bertrand; Poë, Charlotte; Jouan, Thibaud; Boland, Anne; Fin, Bertrand; Bacq-Daian, Delphine; Besse, Céline; Garde, Aurore; Prost, Adeline; Garret, Philippine; Tisserant, Émilie; Delanne, Julian; Nambot, Sophie; Juven, Aurélien; Gorce, Magali; Nizon, Mathilde; Vincent, Marie; Moutton, Sébastien; Fradin, Mélanie; Lavillaureix, Alinoë; Rollier, Paul; Capri, Yline; Van-Gils, Julien; Busa, Tiffany; Sigaudy, Sabine; Pasquier, Laurent; Barth, Magalie; Bruel, Ange-Line; Flamant, Cyril; Prouteau, Clément; Bonneau, Dominique; Toutain, Annick; Chantegret, Corinne; Callier, Patrick; Philippe, Christophe; Duffourd, Yannis; Deleuze, Jean-François; Sorlin, Arthur; Faivre, Laurence; Thauvin-Robinet, Christel
European Journal of Human Genetics: EJHG; May 2022, Vol. 30 Issue: 5 p567-576, 10p
Periodical
Thomas, Quentin; Gautier, Thierry; Marafi, Dana; Besnard, Thomas; Willems, Marjolaine; Moutton, Sébastien; Isidor, Bertand; Cogné, Benjamin; Conrad, Solène; Tenconi, Romano; Iascone, Maria; Sorlin, Arthur; Masurel, Alice; Dabir, Tabib; Jackson, Adam; Banka, Siddharth; Delanne, Julian; Lupski, James R.; Saadi, Nebal Waill; Alkuraya, Fowzan S.; Zahrani, Fatema Al; Agrawal, Pankaj B.; England, Eleina; Madden, Jill A.; Posey, Jennifer E.; Burglen, Lydie; Rodriguez, Diana; Chevarin, Martin; Nguyen, Sylvie; Mau-Them, Frédéric Tran; Duffourd, Yannis; Garret, Philippine; Bruel, Ange-Line; Callier, Patrick; Marle, Nathalie; Denomme-Pichon, Anne-Sophie; Duplomb, Laurence; Philippe, Christophe; Thauvin-Robinet, Christel; Govin, Jérôme; Faivre, Laurence; Vitobello, Antonio
Genetics in Medicine; October 2021, Vol. 23 Issue: 10 p1901-1911, 11p
A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohort
Academic Journal
Garret, Philippine; Chevarin, Martin; Vitobello, Antonio; Verdez, Simon; Fournier, Cyril; Verloes, Alain; Tisserant, Emilie; Vabres, Pierre; Prevel, Orlane; Philippe, Christophe; Denomme-Pichon, Anne-Sophie; Bruel, Ange-Line; Mau-Them, Frederic Tran; Safraou, Hana; Boughalem, Aicha; Costa, Jean-Marc; Trost, Detlef; Thauvin-Robinet, Christel; Faivre, Laurence; Duffourd, Yannis
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[AR] Garret, Philippine
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