| Bibliographic Citation
| - Carapito Raphael, Konantz Martina, Paillard Catherine, Miao Zhichao, Pichot Angélique, Leduc Magalie, Yang Yaping, Bergstrom Katie, Mahoney Donald, Shardy Deborah, Alsaleh Ghada, Naegely Lydie, Kolmer Aline, Paul Nicodème, Hanauer Antoine, Rolli Véronique, Müller Joëlle, Alghisi Elisa, Sauteur Loïc, Macquin Cécile, Morlon Aurore, Sancho Consuelo Sebastia, Amati-Bonneau Patrizia, Procaccio Vincent, Mosca-Boidron Anne-Laure, Marle Nathalie, Osmani Nael, Lefebvre Olivier, Goetz Jacky, Unal Sule, Akarsu Nurten, Radosavljevic Mirjana, Chenard Marie-Pierre, Rialland Fanny, Grain Audrey, Béné Marie-Christine, Eveillard Marion, Vincent Vincent, Guy Julien, Faivre Laurence, Thauvin-Robinet Christel, Thevenon Julien, Myers Kasiani, Fleming Mark, Shimamura Akiko, Bottollier-Lemallaz Elodie, Westhof Eric, Lengerke Claudia, Isidor Bertrand, Bahram Seiamak. Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond–like features. Journal of Clinical Investigation, American Society for Clinical Investigation, 2017, 127 (11), pp.4090-4103. ⟨10.1172/JCI92876⟩
- Carapito Raphael, Paillard Catherine, Pichot Angélique, Yang Yaping, Alsaleh Ghada, Paul Nicodème, Hanauer Antoine, Morlon Aurore, Amati-Bonneau Patrizia, Procaccio Vincent, Mosca-Boidron Anne-Laure, Marle Nathalie, Osmani Nael, Lefebvre Olivier, Chenard Marie-Pierre, Rialland Fanny, Béné Marie-Christine, Eveillard Marion, Guy Julien, Faivre Laurence, Thauvin-Robinet Christel, Thevenon Julien, Bottollier-Lemallaz Elodie, Westhof Eric, Isidor Bertrand, Bahram Seiamak. Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond–like features. Journal of Clinical Investigation, American Society for Clinical Investigation, 2017, 127 (11), pp.4090-4103. ⟨10.1172/JCI92876⟩
- CarapitoRaphael, KonantzMartina, PaillardCatherine, MiaoZhichao, PichotAngélique, LeducMagalie, YangYaping, BergstromKatie, MahoneyDonald, ShardyDeborah, AlsalehGhada, NaegelyLydie, KolmerAline, PaulNicodème, HanauerAntoine, RolliVéronique, MüllerJoëlle, AlghisiElisa, SauteurLoïc, MacquinCécile, MorlonAurore, SanchoConsuelo Sebastia, Amati-BonneauPatrizia, ProcaccioVincent, Mosca-BoidronAnne-Laure, MarleNathalie, OsmaniNael, LefebvreOlivier, GoetzJacky, UnalSule, AkarsuNurten, RadosavljevicMirjana, ChenardMarie-Pierre, RiallandFanny, GrainAudrey, BénéMarie-Christine, EveillardMarion, VincentVincent, GuyJulien, FaivreLaurence, Thauvin-RobinetChristel, ThevenonJulien, MyersKasiani, FlemingMark, ShimamuraAkiko, Bottollier-LemallazElodie, WesthofEric, LengerkeClaudia, IsidorBertrand, BahramSeiamak . Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond–like features . Journal of Clinical Investigation, 2017, 127 (11), pp.4090-4103 . ⟨10.1172/JCI92876⟩
- Carapito Raphael, Konantz Martina, Paillard Catherine, Miao Zhichao, Pichot Angélique, Leduc Magalie, Yang Yaping, Bergstrom Katie, Mahoney Donald, Shardy Deborah, Alsaleh Ghada, Naegely Lydie, Kolmer Aline, Paul Nicodème, Hanauer Antoine, Rolli Véronique, Müller Joëlle, Alghisi Elisa, Sauteur Loïc, Macquin Cécile, Morlon Aurore, Sancho Consuelo Sebastia, Amati-Bonneau Patrizia, Procaccio Vincent, Mosca-Boidron Anne-Laure, Marle Nathalie, Osmani Nael, Lefebvre Olivier, Goetz Jacky, Unal Sule, Akarsu Nurten, Radosavljevic Mirjana, Chenard Marie-Pierre, Rialland Fanny, Grain Audrey, Béné Marie-Christine, Eveillard Marion, Vincent Vincent, Guy Julien, Faivre Laurence, Thauvin-Robinet Christel, Thevenon Julien, Myers Kasiani, Fleming Mark, Shimamura Akiko, Bottollier-Lemallaz Elodie, Westhof Eric, Lengerke Claudia, Isidor Bertrand, Bahram Seiamak . Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond–like features . Journal of Clinical Investigation, 2017, 127 (11), pp.4090-4103 . ⟨10.1172/JCI92876⟩
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