Evolution of b-value during the seismic cycle: Insights from laboratory experiments on simulated faults
Rivière, J., Lv, Z., Johnson, P.A., Marone, C.
Published in Earth and planetary science letters (15.01.2018)
Published in Earth and planetary science letters (15.01.2018)
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Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole‐exome sequencing as a first‐line diagnostic test
Thevenon, J., Duffourd, Y., Masurel‐Paulet, A., Lefebvre, M., Feillet, F., El Chehadeh‐Djebbar, S., St‐Onge, J., Steinmetz, A., Huet, F., Chouchane, M., Darmency‐Stamboul, V., Callier, P., Thauvin‐Robinet, C., Faivre, L., Rivière, J.B.
Published in Clinical genetics (01.06.2016)
Published in Clinical genetics (01.06.2016)
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Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia
PITON, A, GAUTHIER, J, SPIEGELMAN, D, KUKU, F, DUGUAY, J, DESTROISMAISONS, L, JOLIVET, P, COTE, M, LACHAPELLE, K, DIALLO, O, RAYMOND, A, MARINEAU, C, HAMDAN, F. F, CHAMPAGNE, N, XIONG, L, GASPAR, C, RIVIERE, J.-B, TARABEUX, J, COSSETTE, P, KREBS, M.-O, RAPOPORT, J. L, ADDINGTON, A, DELISI, L. E, LAFRENIERE, R. G, MOTTRON, L, JOOBER, R, FOMBONNE, E, DRAPEAU, P, ROULEAU, G. A, YANG, Y, HENRION, E, LAURENT, S, NOREAU, A, THIBODEAU, P, KAREMERA, L
Published in Molecular psychiatry (01.08.2011)
Published in Molecular psychiatry (01.08.2011)
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Homozygous FIBP nonsense variant responsible of syndromic overgrowth, with overgrowth, macrocephaly, retinal coloboma and learning disabilities
Thauvin-Robinet, C., Duplomb-Jego, L., Limoge, F., Picot, D., Masurel, A., Terriat, B., Champilou, C., Minot, D., St-Onge, J., Kuentz, P., Duffourd, Y., Thevenon, J., Rivière, J.-B., Faivre, L.
Published in Clinical genetics (01.05.2016)
Published in Clinical genetics (01.05.2016)
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Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management
Avila, M., Dyment, D.A., Sagen, J.V., St-Onge, J., Moog, U., Chung, B.H.Y., Mo, S., Mansour, S., Albanese, A., Garcia, S., Martin, D.O., Lopez, A.A., Claudi, T., König, R., White, S.M., Sawyer, S.L., Bernstein, J.A., Slattery, L., Jobling, R.K., Yoon, G., Curry, C.J., Merrer, M.L., Luyer, B.L., Héron, D., Mathieu-Dramard, M., Bitoun, P., Odent, S., Amiel, J., Kuentz, P., Thevenon, J., Laville, M., Reznik, Y., Fagour, C., Nunes, M.-L., Delesalle, D., Manouvrier, S., Lascols, O., Huet, F., Binquet, C., Faivre, L., Rivière, J.-B., Vigouroux, C., Njølstad, P.R., Innes, A.M., Thauvin-Robinet, C.
Published in Clinical genetics (01.04.2016)
Published in Clinical genetics (01.04.2016)
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Expanding the clinical spectrum of mosaic BRAF skin phenotypes
Sorlin, A., Carmignac, V., Amiel, J., Boccara, O., Fraitag, S., Maruani, A., Theiler, M., Weibel, L., Duffourd, Y., Philippe, C., Thauvin‐Robinet, C., Faivre, L., Rivière, J.‐B., Vabres, P., Kuentz, P.
Published in Journal of the European Academy of Dermatology and Venereology (01.10.2021)
Published in Journal of the European Academy of Dermatology and Venereology (01.10.2021)
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Hypomorphic RAG deficiency: impact of disease burden on survival and thymic recovery argues for early diagnosis and HSCT
Schuetz, C., Gerke, J., Ege, M., Walter, J., Kusters, M., Worth, A., Kanakry, J. A., Dimitrova, D., Wolska-Kuśnierz, B., Chen, K., Unal, E., Karakukcu, M., Pashchenko, O., Leiding, J., Kawai, T., Amrolia, P. J., Berghuis, D., Buechner, J., Buchbinder, D., Cowan, M. J., Gennery, A. R., Güngör, T., Heimall, J., Miano, M., Meyts, I., Morris, E. C., Rivière, J., Sharapova, S. O., Shaw, P. J., Slatter, M., Honig, M., Veys, P., Fischer, A., Cavazzana, M., Moshous, D., Schulz, A., Albert, M. H., Puck, J. M., Lankester, A. C., Notarangelo, L. D., Neven, B.
Published in Blood (16.02.2023)
Published in Blood (16.02.2023)
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Cost-effectiveness assessment of three components of the bovine tuberculosis surveillance system by intradermal tuberculin testing in French cattle farms by a scenario tree approach
Poirier, V., Rivière, J., Bouveret, A., Gardon, S., Dufour, B.
Published in Preventive veterinary medicine (01.05.2019)
Published in Preventive veterinary medicine (01.05.2019)
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Assessment of vectorial total variation penalties on realistic dual-energy CT data
Rigie, David S, Sanchez, Adrian A, La Rivière, Patrick J
Published in Physics in medicine & biology (21.04.2017)
Published in Physics in medicine & biology (21.04.2017)
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Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis
Bruel, A.‐L., Masurel‐Paulet, A., Rivière, J.‐B., Duffourd, Y., Lehalle, D., Bensignor, C., Huet, F., Borgnon, J., Roucher, F., Kuentz, P., Deleuze, J.‐F., Thauvin‐Robinet, C., Faivre, L., Thevenon, J.
Published in Clinical genetics (01.02.2017)
Published in Clinical genetics (01.02.2017)
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A novel autosomal dominant restless legs syndrome locus maps to chromosome 20p13
Levchenko, A, Provost, S, Montplaisir, J Y, Xiong, L, St-Onge, J, Thibodeau, P, Rivière, J B, Desautels, A, Turecki, G, Dubé, M P, Rouleau, G A
Published in Neurology (12.09.2006)
Published in Neurology (12.09.2006)
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