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Lefebvre, M., Duffourd, Y., Jouan, T., Poe, C., Jean‐Marçais, N., Verloes, A., St‐Onge, J., Riviere, J.‐B., Petit, F., Pierquin, G., Demeer, B., Callier, P., Thauvin‐Robinet, C., Faivre, L., Thevenon, J.
Published in Clinical genetics (01.06.2017)
Published in Clinical genetics (01.06.2017)
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Martin, R, Splitt, M, Genevieve, D, Aten, E, Collins, A, de Bie, C I, Faivre, L, Foulds, N, Giltay, J, Ibitoye, R, Joss, S, Kennedy, J, Kerr, B, Kivuva, E, Koopmans, M, Newbury-Ecob, R, Jean-Marçais, N, Peeters, E A J, Smithson, S, Tomkins, S, Tranmauthem, F, Piton, A, van Haeringen, A
Published in European journal of human genetics : EJHG (01.11.2019)
Published in European journal of human genetics : EJHG (01.11.2019)
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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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Soilly, A L, Robert-Viard, C, Besse, C, Bruel, A L, 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, M L, Deleuze, J F, Binquet, C, Thauvin-Robinet, C, Lejeune, C
Published in BMC health services research (21.04.2023)
Published in BMC health services research (21.04.2023)
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Integrated genome and transcriptome analyses solves about one third of the patients with rare developmental disorders and negative first-line molecular investigations
Vitobello, A., Mau-Them, F. T., 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, A., Mosca-Boidron, A., Sorlin, A., Isidor, Bertrand, Heide, S., Afenjar, A., Rodriguez, D., Mignot, C., Heron, D., Vincent, M., Charles, P., Odent, S., Dubourg, C., Faudet, A., Keren, B., Cogné, Benjamin, Boland, Anne, Olaso, Robert, Philippe, C., Deleuze, Jean-François, Faivre, L., Thauvin-Robinet, C.
Published in European journal of human genetics : EJHG (2020)
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Published in European journal of human genetics : EJHG (2020)
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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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