학술논문
'학술논문'
에서 검색결과 94건 | 목록
30~40
Academic Journal
Nikolaou, A.; Lucidi, V.; Eisendrath, P.; De Gendt, E.; Desir, J.; Loi, P.; Demetter, P.; Corvilain, B.; Driessens, N.
In Annales d'Endocrinologie September 2016 77(4):493-493
Academic Journal
In Annales d'Endocrinologie September 2016 77(4):457-457
Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency
Academic Journal
Lovric, S.; Gee, H.Y.; Choi, W.-I.; Shril, S.; Ashraf, S.; Tan, W.; Rao, J.; Airik, M.; Schapiro, D.; Braun, D.A.; Sadowski, C.E.; Widmeier, E.; Jobst-Schwan, T.; Schmidt, J.M.; Hildebrandt, F.; Goncalves, S.; Lachaussée, N.; Arrondel, C.; Patat, J.; Gribouval, O.; Furlano, M.; Boyer, O.; Antignac, C.; Simons, M.; Oskouian, B.; Suh, J.H.; Saba, J.D.; Srinivas, H.; Wilcken, R.; Girik, V.; Riezman, H.; Capitani, G.; Schmitt, A.; Vuiblet, V.; Hashmi, S.; Bernier, F.P.; Innes, A.M.; Parboosingh, J.S.; Lamont, R.E.; Midgley, J.P.; Wright, N.; Majewski, J.; Zenker, M.; Schanze, D.; Schaefer, F.; Kuss, N.; Greil, J.; Giese, T.; Schwarz, K.; Catheline, V.; Désir, J.; Franke, I.; Sznajer, Y.; Truant, A.S.; Adams, B.; Biemann, R.; Pei, Y.; Ars, E.; Lloberas, N.; Madrid, A.; Dharnidharka, V.R.; Connolly, A.M.; Willing, M.C.; Cooper, M.A.; Lifton, R.P.
In: Journal of Clinical Investigation . (Journal of Clinical Investigation, 1 March 2017, 127(3):912-928)
Academic Journal
Moortgat, S.; Benoit, V.; Boulanger, S.; Lederer, D.; Maystadt, I.; Désir, J.; Pendeville, H.; Nassogne, M.-C.
In: American Journal of Medical Genetics, Part A . (American Journal of Medical Genetics, Part A, 1 November 2016, 170(11):2927-2933)
Conference
Sadri, N.; Khallouli, W.; Kovacic, S.; Sousa-Poza, A.; Cannan, M.; Desir, J.; Shahab Uddin, M.; Li, J.
In: 2022 IEEE 13th Annual Ubiquitous Computing, Electronics and Mobile Communication Conference, UEMCON 2022 , 2022 IEEE 13th Annual Ubiquitous Computing, Electronics and Mobile Communication Conference, UEMCON 2022. (2022 IEEE 13th Annual Ubiquitous Computing, Electronics and Mobile Communication Conference, UEMCON 2022, 2022, :45-51)
Academic Journal
In: Clinical Nephrology . (Clinical Nephrology, 2016, 85(3):159-164)
Academic Journal
Lefebvre, M.; El Chehadeh, S.; Masurel-Paulet, A.; Faivre, L.; Thauvin-Robinet, C.; Bruel, A.-L.; Thevenon, J.; Vabres, P.; Rivière, J.-B.; Laurent, N.; Dufernez, F.; Gonzales, M.; Joyé, N.; Aral, B.; Saint-Onge, J.; Gigot, N.; Desir, J.; Daelemans, C.; Jossic, F.; Schmitt, S.; Mangione, R.; Pelluard, F.; Vincent-Delorme, C.; Labaune, J.-M.; Bigi, N.; D'Olne, D.; Delezoide, A.-L.; Toutain, A.; Blesson, S.; Cormier-Daire, V.; Vibert-Guigue, C.; Rigonnot, L.; Rousseau, T.; Hervé, P.; Lamazière, A.
In: Prenatal Diagnosis . (Prenatal Diagnosis, 1 July 2015, 35(7):675-684)
Academic Journal
Stange, K.; Seemann, P.; Désir, J.; Kakar, N.; Borck, G.; Mueller, T.D.; Budde, B.S.; Gordon, C.T.; Horn, D.
In: Orphanet Journal of Rare Diseases . (Orphanet Journal of Rare Diseases, 24 June 2015, 10(1))
Academic Journal
Dupuis, N.; Fafouri, A.; Bayot, A.; Kumar, M.; Lecharpentier, T.; Dournaud, P.; Drunat, S.; Csaba, Z.; Passemard, S.; Gressens, P.; El Ghouzzi, V.; Ball, G.; Edwards, D.; Bernard, V.; Vermelle-Andrzejewski, M.; Vilain, C.; Abramowicz, M.; Désir, J.; Bonaventure, J.; Gareil, N.; Boncompain, G.; Perez, F.
In: Human Molecular Genetics . (Human Molecular Genetics, 15 May 2015, 24(10):2771-2783)
Academic Journal
Chatron, N.; Till, M.; Sanlaville, D.; Schluth-Bolard, C.; Haddad, V.; Benzacken, B.; Aboura, A.; Andrieux, J.; Désir, J.; Boute, O.; Dieux, A.; Baumann, C.; Drunat, S.; Gérard, M.; Bonnet, C.; Leheup, B.; Rossi, M.; Edery, P.; Flori, E.; Alembik, Y.; Stewart, H.; Mcparland, J.; Bernardini, L.; Castelluccio, P.; Roos, L.; Tümer, Z.; Fagan, K.; Hackett, A.; Bain, N.; van Haeringen, A.; Ruivenkamp, C.
In: American Journal of Medical Genetics, Part A . (American Journal of Medical Genetics, Part A, 1 May 2015, 167(5):1008-1017)
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[AR] Désir, J.
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