Zobrazeno 1 - 10
of 136
pro vyhledávání: '"Jouan T"'
Autor:
Soilly, Al, Robert-Viard, C, Besse, C, Bruel, Al, Gerard, B, Boland, A, Piton, A, Duffourd, Y, Muller, J, Poë, C, Jouan, T, El Doueiri, S, Faivre, L, Bacq-Daian, D, Isidor, B, Genevieve, D, Odent, S, Philip, N, Doco-Fenzy, M, Lacombe, D, Asensio, Ml, Deleuze, Jf, Binquet, C, Thauvin-Robinet, C, Lejeune, C, Arpin, S, Blanchet, P, Blesson, S, Boute-Benejean, O, Busa, T, Colin, E, Coubes, C, Devillard, F, Edery, P, El Chehadeh, S, Fradin, M, Goldenberg, A, Guerrot, A-M, Herenger, Y, Houcinat, N, Jean-Marcais, N, Jouk, P., Lambert, L, Lavillaureix, A, Legendre, M, Leheup, B, Manouvrier, S, Mercier, S, Moutton, S, Nizon, M, Pasquier, L, Petit, F, Pinson, L, Poirsier, C, Pons, L, Putoux, A, Quelin, C, Renaud, M, Rossi, M, Sorlin, A, Spodenkiewicz, M, Thevenon, J, Toutain, A, Van-Gils, J, Vanlerberghe, C, Verloes, A, Vincent, M, Vincent-Delorme, C, Willems, M, Ziegler, A
Publikováno v:
BMC Health Services Research
BMC Health Services Research, 2023, 23 (1), pp.386. ⟨10.1186/s12913-023-09373-z⟩
BMC Health Services Research, 2023, 23 (1), pp.386. ⟨10.1186/s12913-023-09373-z⟩
Background: With the development of next generation sequencing technologies in France, exome sequencing (ES) has recently emerged as an opportunity to improve the diagnosis rate of patients presenting an intellectual disability (ID). To help French p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::c32699af80841f12baa0810b47fab1ea
https://univ-rennes.hal.science/hal-04164227
https://univ-rennes.hal.science/hal-04164227
Autor:
Soilly, AL, Robert-Viard, C, Besse, C, Bruel, AL, Gerard, B, Boland, A, Piton, A, Duffourd, Y, Muller, J, Poë, C, Jouan, T, El Doueiri, S, Faivre, L, Bacq-Daian, D, Isidor, B, Genevieve, D, Odent, S, Philip, N, Doco-Fenzy, M, Lacombe, D, Asensio, ML, Deleuze, JF, Binquet, C, Thauvin-Robinet, C, Lejeune, C
Additional file 1. Resources used (year 2018). Full details of resources used.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ffcd80fcd9eecf9947ab1307e8e305a
Autor:
Bouillet, B. *, Crevisy, E., Baillot-Rudoni, S., Gallegarine, D., Jouan, T., Duffourd, Y., Petit, J.M., Vergès, B., Callier, P.
Publikováno v:
In Diabetes & Metabolism October 2020 46(5):400-402
Autor:
Vitobello, A., Mau-Them, F. Tran, Bruel, A. L., Duffourd, Y., Tisserant, E., Callier, P., Moutton, S., Nambot, S., Lehalle, D., Jean-Marcais, N., Delanne, J., Racine, C., Thevenon, J., Poe, C., Jouan, T., Chevarin, M., Willems, M., Coubes, C., Genevieve, D., Houcinat, N., Masurel-Paulet, Alice, Mosca-Boidron, A.-L., Sorlin, A., Isidor, B., Heide, S., Afenjar, A., Rodriguez, D., Mignot, C., Heron, D., Vincent, M., Charles, P., Odent, S., Dubourg, C., Faudet, A., Keren, B., Cogne, B., Boland, A., Olaso, R., Philippe, C., Deleuze, J. F., Faivre, L., Thauvin-Robinet, C.
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2020, 28 (SUPPL 1), pp.65-66. ⟨10.1038/s41431-020-00740-6⟩
53rd European Society of Human Genetics (ESHG) Conference
53rd European Society of Human Genetics (ESHG) Conference, Jun 2020, Vienna, Austria. pp.65-66, ⟨10.1038/s41431-020-00740-6⟩
European Journal of Human Genetics, Nature Publishing Group, 2020, 28 (SUPPL 1), pp.65-66. ⟨10.1038/s41431-020-00740-6⟩
53rd European Society of Human Genetics (ESHG) Conference
53rd European Society of Human Genetics (ESHG) Conference, Jun 2020, Vienna, Austria. pp.65-66, ⟨10.1038/s41431-020-00740-6⟩
International audience
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::68abf0863685006972a082a073bd3660
https://hal.archives-ouvertes.fr/hal-03131511
https://hal.archives-ouvertes.fr/hal-03131511
Publikováno v:
In Materials Research Bulletin 13 July 2006 41(7):1303-1309
Publikováno v:
In Materials Science & Engineering B 2006 127(2):138-143
Autor:
Petit, L., Cardinal, T. *, Videau, J.J., Smektala, F., Jouan, T., Richardson, K., Schulte, A.
Publikováno v:
In Materials Science & Engineering B 2005 117(3):283-286
Autor:
Lehalle, D., Vabres, P., Bierhals, T., Cho, M. T., Cogne, B., Avila, M., Carmignac, V., Duplomb-Jego, L., De Bont, E., Duffourd, Y., Duijkers, F., Elpeleg, O., Fattal-Valevski, A., Genevieve, D., Guimier, A., Harris, D., Hempel, M., Isidor, B., Jouan, T., Kuentz, P., Lichtenbelt, K., Ramey, V. Loik, Pasquier, L., St-Onge, J., Sorlin, A., Thevenon, J., Torti, E., Van Gassen, K., Van Haelst, M., van Koningsbruggen, S., Riviere, J., Thauvin, C., Betschinger, J., Faivre, L.
Publikováno v:
Lehalle, D, Vabres, P, Bierhals, T, Cho, M T, Cogne, B, Avila, M, Carmignac, V, Duplomb-Jego, L, De Bont, E, Duffourd, Y, Duijkers, F, Elpeleg, O, Fattal-Valevski, A, Genevieve, D, Guimier, A, Harris, D, Hempel, M, Isidor, B, Jouan, T, Kuentz, P, Lichtenbelt, K, Ramey, V L, Pasquier, L, St-Onge, J, Sorlin, A, Thevenon, J, Torti, E, Van Gassen, K, Van Haelst, M, van Koningsbruggen, S, Riviere, J, Thauvin, C, Betschinger, J & Faivre, L 2019, ' De novo missense mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features ', European Journal of Human Genetics, vol. 27, pp. 1094-1094 .
European Journal of Human Genetics, 27, 1094-1094. Nature Publishing Group
European Journal of Human Genetics, 27, 1094-1094. Nature Publishing Group
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::d4fe488a89bd4c637dfa6db87d369dbd
https://research.vumc.nl/en/publications/32f4f126-1635-4054-a78d-8f2c1e76300a
https://research.vumc.nl/en/publications/32f4f126-1635-4054-a78d-8f2c1e76300a
Autor:
Michel, K., Bureau, B., Boussard-Plédel, C., Jouan, T., Adam, J.L., Staubmann, K., Baumann, T.
Publikováno v:
In Sensors & Actuators: B. Chemical 15 June 2004 101(1-2):252-259
Autor:
Michel, K., Bureau, B., Pouvreau, C., Sangleboeuf, J.C., Boussard-Plédel, C., Jouan, T., Rouxel, T., Adam, J.-L., Staubmann, K., Steinner, H., Baumann, T., Katzir, A., Bayona, J., Konz, W.
Publikováno v:
In Journal of Non-Crystalline Solids 1 October 2003 326-327:434-438