EP06.12: Prospective reanalysis of unsolved prenatal exome sequencing: diagnostic yield and contribution of postnatal/post‐mortem findings
Bourgon, N., Them, F. Tran Mau, Safraou, H., Bruel, A., Denomme‐Pichon, A., Vitobello, A., Binquet, C., Duffour, Y., Faivre, L., Thauvin, C.
Published in Ultrasound in obstetrics & gynecology (01.09.2024)
Published in Ultrasound in obstetrics & gynecology (01.09.2024)
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OP10.09: Prenatal exome sequencing: a powerful tool to improve description of prenatal features related to genetic disorders
Bourgon, N., Them, F. Tran Mau, Bruel, A., Safraou, H., Denomme‐Pichon, A., Rousseau, T., Vitobello, A., Philippe, C., Binquet, C., Duffour, Y., Faivre, L., Thauvin, C.
Published in Ultrasound in obstetrics & gynecology (01.09.2024)
Published in Ultrasound in obstetrics & gynecology (01.09.2024)
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De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy
Tran Mau-Them, F, Guibaud, L, Duplomb, L, Keren, B, Lindstrom, K, Marey, I, Mochel, F, van den Boogaard, M J, Oegema, R, Nava, C, Masurel, A, Jouan, T, Jansen, F E, Au, M, Chen, Agnes H, Cho, M, Duffourd, Y, Lozier, E, Konovalov, F, Sharkov, A, Korostelev, S, Urteaga, B, Dickson, P, Vera, M, Martínez-Agosto, Julián A, Begemann, A, Zweier, M, Schmitt-Mechelke, T, Rauch, A, Philippe, C, van Gassen, K, Nelson, S, Graham, Jr, J M, Friedman, J, Faivre, L, Lin, H J, Thauvin-Robinet, C, Vitobello, A
Published in Genetics in medicine (01.04.2019)
Published in Genetics in medicine (01.04.2019)
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Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly
Bruel, A.‐L., Thevenon, J., Huet, F., Jean‐Marcais, N., Odent, S., Dubourg, C., Lehalle, D., Tran Mau‐Them, F., Philippe, C., Moutton, S., Houcinat, N., Gay, S., Guibaud, L., Duffourd, Y., Rivière, J.‐B., Faivre, L., Thauvin‐Robinet, C.
Published in Clinical Genetics (01.07.2018)
Published in Clinical Genetics (01.07.2018)
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French invasive Asian tiger mosquito populations harbor reduced bacterial microbiota and genetic diversity compared to Vietnamese autochthonous relatives
Minard, G, Tran, F H, Van, Van Tran, Goubert, C, Bellet, C, Lambert, G, Kim, Khanh Ly Huynh, Thuy, Trang Huynh Thi, Mavingui, P, Valiente Moro, C
Published in Frontiers in microbiology (22.09.2015)
Published in Frontiers in microbiology (22.09.2015)
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OC18.02: Exome sequencing during pregnancy for fetuses with unsolved multiple congenital abnormalities: a powerful tool to improve prenatal diagnosis
Bourgon, N., Lefebvre, M., Bruel, A., Them, F. Tran Mau, Garde, A., Moutton, S., Sorlin, A., Delanne, J., Vitobello, A., Thauvin, C.
Published in Ultrasound in obstetrics & gynecology (01.10.2021)
Published in Ultrasound in obstetrics & gynecology (01.10.2021)
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Secondary findings from whole-exome/genome sequencing evaluating stakeholder perspectives. A review of the literature
Delanne, J., Nambot, S., Chassagne, A., Putois, O., Pelissier, A., Peyron, C., Gautier, E., Thevenon, J., Cretin, E., Bruel, A.L., Goussot, V., Ghiringhelli, F., Boidot, R., Tran Mau-Them, F., Philippe, C., Vitobello, A., Demougeot, L., Vernin, C., Lapointe, A.S., Bardou, M., Luu, M., Binquet, C., Lejeune, C., Joly, L., Juif, C., Baurand, A., Sawka, C., Bertolone, G., Duffourd, Y., Sanlaville, D., Pujol, P., Geneviève, D., Houdayer, F., Thauvin-Robinet, C., Faivre, L.
Published in European journal of medical genetics (01.06.2019)
Published in European journal of medical genetics (01.06.2019)
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Electron Transport through Rectifying Self-Assembled Monolayer Diodes on Silicon: Fermi-Level Pinning at the Molecule−Metal Interface
Lenfant, S, Guerin, D, Tran Van, F, Chevrot, C, Palacin, S, Bourgoin, J. P, Bouloussa, O, Rondelez, F, Vuillaume, D
Published in The journal of physical chemistry. B (20.07.2006)
Published in The journal of physical chemistry. B (20.07.2006)
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Truncating variants of the DLG4 gene are responsible for intellectual disability with marfanoid features
Moutton, S., Bruel, A.‐L., Assoum, M., Chevarin, M., Sarrazin, E., Goizet, C., Guerrot, A.‐M., Charollais, A., Charles, P., Heron, D., Faudet, A., Houcinat, N., Vitobello, A., Tran‐Mau‐Them, F., Philippe, C., Duffourd, Y., Thauvin‐Robinet, C., Faivre, L.
Published in Clinical genetics (01.06.2018)
Published in Clinical genetics (01.06.2018)
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The Intriguing Properties of 1-Ethyl-3-methylimidazolium bis(fluorosulfonyl)imide Ionic Liquid
Sayah, S., Ghamouss, F., Santos-Peña, J., Tran-Van, F., Lemordant, D.
Published in Journal of solution chemistry (31.07.2019)
Published in Journal of solution chemistry (31.07.2019)
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Carbazole-based hole transporting material for solid state dye-sensitized solar cells: Influence of the purification methods
Degbia, M., Ben Manaa, M., Schmaltz, B., Berton, N., Bouclé, J., Antony, R., Tran Van, F.
Published in Materials science in semiconductor processing (01.03.2016)
Published in Materials science in semiconductor processing (01.03.2016)
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Metallic-like Wilson ratio in the polyaniline hydrochloride conducting polymer
Limelette, P., Schmaltz, B., Brault, D., Tran Van, F.
Published in Journal of applied physics (28.03.2015)
Published in Journal of applied physics (28.03.2015)
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Conductivity scaling and thermoelectric properties of polyaniline hydrochloride
Limelette, P., Schmaltz, B., Brault, D., Gouineau, M., Autret-Lambert, C., Roger, S., Grimal, V., Tran Van, F.
Published in Journal of applied physics (21.01.2014)
Published in Journal of applied physics (21.01.2014)
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Electrical transport crossovers and thermopower in doped polyaniline conducting polymer
Brault, D., Lepinoy, M., Limelette, P., Schmaltz, B., Tran Van, F.
Published in Journal of applied physics (14.12.2017)
Published in Journal of applied physics (14.12.2017)
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