학술논문
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'학술논문'
에서 검색결과 114건 | 목록
1~20
Academic Journal
Bérangère Rousselot‐Pailley; Michaela Semeraro; Fabienne Marquant; Laurence Robel; Cyril Gitiaux; Anna Kaminska; Fanny Mochel; Prissile Bakouboula; Caroline Elie; Carole Hennequin; Irène Ceballos‐Picot; Sylvia Sanquer; Pascale de Lonlay
J Inherit Metab Dis
Academic Journal
Zhu, Gaofeng, MSc; Didry-Barca, Blaise, MSc; Seabra, Luis, MSc; Rice, Gillian I, PhD; Uggenti, Carolina, PhD; Touimy, Moncef, PharmD; Rodero, Mathieu P, PhD; Trapero, Rolando Hernandez, PhD; Bondet, Vincent, PhD; Duffy, Darragh, PhD; Gautier, Philippe, PhD; Livingstone, Katie, MSc; Sutherland, Fraser J H, MSc; Lebon, Pierre, Prof; Parisot, Mélanie, BSc; Bole-Feysot, Christine, PhD; Masson, Cécile, MSc; Cagnard, Nicolas, MSc; Nitschké, Patrick, PhD; Anderson, Glenn, MSc; Assmann, Birgit, MD; Barth, Magalie, MD; Boespflug-Tanguy, Odile, MD PhD; D’Arco, Felice, MD; Dorboz, Imen, PhD; Giese, Thomas, Prof; Hacohen, Yael, DPhil; Hancarova, Miroslava, PhD; Husson, Marie, MD; Lepine, Anne, MD; Lim, Ming, Prof; Mancardi, Maria Margherita, MD PhD; Melki, Isabelle, MD PhD; Neubauer, David, Prof; Sa, Mario, MD; Sedlacek, Zdenek, Prof; Seitz, Angelika, MD; Rottman, Mika Shapiro, MD PhD; Sanquer, Sylvia, PhD; Straussberg, Rachel, Prof; Vlčková, Markéta, PhD; Villéga, Frédéric, MD PhD; Wagner, Matias, Prof; Zerem, Ayelet, MD; Marsh, Joseph A, Prof; Frémond, Marie-Louise, Prof; Kaliakatsos, Marios, PhD; Crow, Yanick J, Prof; El-Daher, Marie-Thérèse, PhD; Lepelley, Alice, PhD
The Lancet Neurology. 24(3):218-229
Academic Journal
Chasseigneaux, Stéphanie; Cochois-Guégan, Véronique; Lecorgne, Lucas; Lochus, Murielle; Nicolic, Sophie; Blugeon, Corinne; Jourdren, Laurent; Gomez-Zepeda, David; Tenzer, Stefan; Sanquer, Sylvia; Nivet-Antoine, Valérie; Menet, Marie-Claude; Laplanche, Jean-Louis; Declèves, Xavier; Cisternino, Salvatore; Saubaméa, Bruno
Fluids and Barriers of the CNS. 21(1)
Academic Journal
Frémond, Marie-Louise; Hully, Marie; Fournier, Benjamin; Barrois, Rémi; Lévy, Romain; Aubart, Mélodie; Castelle, Martin; Chabalier, Delphine; Gins, Clarisse; Sarda, Eugénie; Al Adba, Buthaina; Couderc, Sophie; D’ Almeida, Céline; Berat, Claire-Marine; Durrleman, Chloé; Espil, Caroline; Lambert, Laetitia; Méni, Cécile; Périvier, Maximilien; Pillet, Pascal; Polivka, Laura; Schiff, Manuel; Todosi, Calina; Uettwiller, Florence; Lepelley, Alice; Rice, Gillian I.; Seabra, Luis; Sanquer, Sylvia; Hulin, Anne; Pressiat, Claire; Goldwirt, Lauriane; Bondet, Vincent; Duffy, Darragh; Moshous, Despina; Bader-Meunier, Brigitte; Bodemer, Christine; Robin-Renaldo, Florence; Boddaert, Nathalie; Blanche, Stéphane; Desguerre, Isabelle; Crow, Yanick J.; Neven, Bénédicte
Journal of Clinical Immunology: International Journal of Inborn Errors of Immunity and Related Diseases. :1-12
Academic Journal
Mikdar, Mahmoud ; González-Menéndez, Pedro ; Cai, Xiaoli ; Zhang, Yujin ; Serra, Marion ; Dembele, Abdoul K. ; Boschat, Anne-Claire ; Sanquer, Sylvia ; Chhuon, Cerina ; Guerrera, Ida Chiara ; Sitbon, Marc ; Hermine, Olivier ; Colin, Yves ; Le Van Kim, Caroline ; Kinet, Sandrina ; Mohandas, Narla ; Xia, Yang ; Peyrard, Thierry ; Taylor, Naomi ; Azouzi, Slim
In Blood 24 June 2021 137(25):3548-3562
Academic Journal
Zhu, Gaofeng; Didry-Barca, Blaise; Seabra, Luis; Rice, Gillian, I; Uggenti, Carolina; Touimy, Moncef; Rodero, Mathieu P.; Trapero, Rolando Hernandez; Bondet, Vincent; Duffy, Darragh; Gautier, Philippe; Livingstone, Katie; Sutherland, Fraser J. H.; Lebon, Pierre; Parisot, Melanie; Bole-Feysot, Christine; Masson, Cecile; Cagnard, Nicolas; Nitschke, Patrick; Anderson, Glenn; Assmann, Birgit; Barth, Magalie; Boespflug-Tanguy, Odile; D'Arco, Felice; Dorboz, Imen; Giese, Thomas; Hacohen, Yael; Hancarova, Miroslava; Husson, Marie; Lepine, Anne; Lim, Ming; Mancardi, Maria Margherita; Melki, Isabelle; Neubauer, David; Sa, Mario; Sedlacek, Zdenek; Seitz, Angelika; Rottman, Mika Shapiro; Sanquer, Sylvia; Straussberg, Rachel; Vlckova, Marketa; Villega, Frederic; Wagne, Matias; Zerem, Ayelet; Marsh, Joseph A.; Fremond, Marie-Louise; Kaliakatsos, Marios; Crow, Yanick J.; El-Daher, Marie-Therese; Lepelley, Alice
Academic Journal
Mercati, Oriane ; Abi Warde, Marie-Thérèse ; Lina-Granade, Geneviève ; Rio, Marlène ; Heide, Solveig ; de Lonlay, Pascale ; Ceballos-Picot, Irène ; Robert, Matthieu P. ; Couloigner, Vincent ; Beltrand, Jacques ; Boddaert, Nathalie ; Rodriguez, Diana ; Rubinato, Elisa ; Lapierre, Jean-Michel ; Merlette, Christophe ; Sanquer, Sylvia ; Rötig, Agnès ; Prokisch, Holger ; Lyonnet, Stanislas ; Loundon, Natalie ; Kaplan, Josseline ; Bonnefont, Jean-Paul ; Munnich, Arnold ; Besmond, Claude ; Jonard, Laurence ; Marlin, Sandrine
In European Journal of Medical Genetics November 2020 63(11)
Academic Journal
Fanny Alby-Laurent; Nadia Belaïdouni; Benoit Blanchet; Christophe Rousseau; Jean-François Llitjos; Sylvia Sanquer; Jean-Paul Mira; Frédéric Pène; Julie Toubiana; Jean-Daniel Chiche
Frontiers in Immunology, Vol 13 (2022)
Academic Journal
Christelle Arrondel; Sophia Missoury; Rozemarijn Snoek; Julie Patat; Giulia Menara; Bruno Collinet; Dominique Liger; Dominique Durand; Olivier Gribouval; Olivia Boyer; Laurine Buscara; Gaëlle Martin; Eduardo Machuca; Fabien Nevo; Ewen Lescop; Daniela A. Braun; Anne-Claire Boschat; Sylvia Sanquer; Ida Chiara Guerrera; Patrick Revy; Mélanie Parisot; Cécile Masson; Nathalie Boddaert; Marina Charbit; Stéphane Decramer; Robert Novo; Marie-Alice Macher; Bruno Ranchin; Justine Bacchetta; Audrey Laurent; Sophie Collardeau-Frachon; Albertien M. van Eerde; Friedhelm Hildebrandt; Daniella Magen; Corinne Antignac; Herman van Tilbeurgh; Géraldine Mollet
Nature Communications, Vol 10, Iss 1, Pp 1-13 (2019)
Academic Journal
Daniela A Braun; Jia Rao; Geraldine Mollet; David Schapiro; Marie-Claire Daugeron; Weizhen Tan; Olivier Gribouval; Olivia Boyer; Patrick Revy; Tilman Jobst-Schwan; Johanna Magdalena Schmidt; Jennifer A Lawson; Denny Schanze; Shazia Ashraf; Jeremy F P Ullmann; Charlotte A Hoogstraten; Nathalie Boddaert; Bruno Collinet; Gaëlle Martin; Dominique Liger; Svjetlana Lovric; Monica Furlano; I Chiara Guerrera; Oraly Sanchez-Ferras; Jennifer F Hu; Anne-Claire Boschat; Sylvia Sanquer; Björn Menten; Sarah Vergult; Nina De Rocker; Merlin Airik; Tobias Hermle; Shirlee Shril; Eugen Widmeier; Heon Yung Gee; Won-Il Choi; Carolin E Sadowski; Werner L Pabst; Jillian K Warejko; Ankana Daga; Tamara Basta; Verena Matejas; Karin Scharmann; Sandra D Kienast; Babak Behnam; Brendan Beeson; Amber Begtrup; Malcolm Bruce; Gaik-Siew Ch'ng; Shuan-Pei Lin; Jui-Hsing Chang; Chao-Huei Chen; Megan T Cho; Patrick M Gaffney; Patrick E Gipson; Chyong-Hsin Hsu; Jameela A Kari; Yu-Yuan Ke; Cathy Kiraly-Borri; Wai-ming Lai; Emmanuelle Lemyre; Rebecca Okashah Littlejohn; Amira Masri; Mastaneh Moghtaderi; Kazuyuki Nakamura; Fatih Ozaltin; Marleen Praet; Chitra Prasad; Agnieszka Prytula; Elizabeth R Roeder; Patrick Rump; Rhonda E Schnur; Takashi Shiihara; Manish D Sinha; Neveen A Soliman; Kenza Soulami; David A Sweetser; Wen-Hui Tsai; Jeng-Daw Tsai; Rezan Topaloglu; Udo Vester; David H Viskochil; Nithiwat Vatanavicharn; Jessica L Waxler; Klaas J Wierenga; Matthias T F Wolf; Sik-Nin Wong; Sebastian A Leidel; Gessica Truglio; Peter C Dedon; Annapurna Poduri; Shrikant Mane; Richard P Lifton; Maxime Bouchard; Peter Kannu; David Chitayat; Daniella Magen; Bert Callewaert; Herman van Tilbeurgh; Martin Zenker; Corinne Antignac; Friedhelm Hildebrandt
NATURE GENETICS
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Institut dInvestigació Biomèdica Sant Pau (IIB Sant Pau)
Paediatrics Publications
Nature Genetics
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Institut dInvestigació Biomèdica Sant Pau (IIB Sant Pau)
Paediatrics Publications
Nature Genetics
Academic Journal
Emmanuel Martin; Norbert Minet; Anne-Claire Boschat; Sylvia Sanquer; Steicy Sobrino; Christelle Lenoir; Jean Pierre de Villartay; Maria Leites-de-Moraes; Capucine Picard; Claire Soudais; Tim Bourne; Sophie Hambleton; Stephen M. Hughes; Robert F. Wynn; Tracy A. Briggs; Smita Patel; Monica G. Lawrence; Alain Fischer; Peter D. Arkwright; Sylvain Latour
Genomics England Research Consortium 2020, 'Impaired lymphocyte function and differentiation in CTPS1-deficient patients result from a hypomorphic homozygous mutation', JCI Insight, vol. 5, no. 5, e133880. https://doi.org/10.1172/jci.insight.133880
Academic Journal
Emmanuel, Boleslawski; Filomena, Conti; Sylvia, Sanquer; Philippe, Podevin; Sandrine, Chouzenoux; Frédéric, Batteux; Didier, Houssin; Bernard, Weill; Yvon, Calmus
Transplantation. 77:1815-1820
Academic Journal
Journal of Chromatography B. 773:119-127
Academic Journal
Clinical Pharmacology & Therapeutics. June, 1999, Vol. 65 Issue 6, p640, 9 p.
Academic Journal
Francois-Heude, Marie-Celine; Poulen, Gaetan; Roze, Emmanuel Flamand; Morel, Marie-Ange Nguyen; Gras, Domitille; Roch-Toreilles, Isabelle; Quintard, Adeline; Baroux, Gaelle; Meyer, Pierre; Coubes, Philippe; Milesi, Christophe; Cambonie, Gilles; Baleine, Julien; Sola, Chrystelle; Delye, Benedicte; Dimopoulou, Evgenia; Sanchez, Stephanie; Gasnier, Mathieu; Touati, Souad; Zamora, Alberto; Pontal, Daniel; Leboucq, Nicolas; Kouyoumdjian, Virginie; Lebasnier, Adrien; Sanquer, Sylvia; Mariano-Goulart, Denis; Roujeau, Thomas; Roubertie, Agathe
Academic Journal
Deprez, Isabelle; Darmon, Marie-Emilie; Hira, Michel; Adam, Micheline; Sanquer, Sylvia; Teiger, Emmanuel; Chetboul, Valérie; Eloit, Marc; Adnot, Serge; Pham, Isabelle
The Journal of Laboratory and Clinical Medicine. 137(3):155-164
Academic Journal
Annane, Djillali, MD; Sanquer, Sylvia, PhD; Sébille, Véronique, PhD; Faye, Alain, MD; Djuranovic, Dragana, MD; Raphaël, Jean Claude, MD; Gajdos, Philippe, MD; Bellissant, Eric, MD
The Lancet. 355(9210):1143-1148
Academic Journal
Martin, Emmanuel; Palmic, Noe; Sanquer, Sylvia; Lenoir, Christelle; Hauck, Fabian; Mongellaz, Cedric; Fabrega, Sylvie; Nitschke, Patrick; Esposti, Mauro Degli; Schwartzentruber, Jeremy; Taylor, Naomi; Majewski, Jacek; Jabado, Nada; Wynn, Robert F.; Picard, Capucine; Fischer, Alain; Arkwright, Peter D.; Latour, Sylvain
Nature. June 12, 2014, Vol. 510 Issue 7504, p288, 18 p.
Academic Journal
Sylvia Sanquer; Catherine Amrein; Dominique Grenet; Romain Guillemain; Bruno Philippe; Veronique Boussaud; Laurence Herry; Celine Lena; Alphonsine Diouf; Michelle Paunet; Eliane M Billaud; Françoise Loriaux; Jean-Philippe Jais; Robert Barouki; Marc Stern
PLoS ONE, Vol 8, Iss 3, p e59634 (2013)
Academic Journal
The Lancet. May 23, 1998 351(9115):1557-1557
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[검색어] Sylvia Sanquer
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