Search Results - Boute-Benejean, O

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  1. 1
    Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia

    Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia by Chassaing, N., Causse, A., Vigouroux, A., Delahaye, A., Alessandri, J.-L., Boespflug-Tanguy, O., Boute-Benejean, O., Dollfus, H., Duban-Bedu, B., Gilbert-Dussardier, B., Giuliano, F., Gonzales, M., Holder-Espinasse, M., Isidor, B., Jacquemont, M.-L., Lacombe, D., Martin-Coignard, D., Mathieu-Dramard, M., Odent, S., Picone, O., Pinson, L., Quelin, C., Sigaudy, S., Toutain, A., Thauvin-Robinet, C., Kaplan, Josseline, Calvas, Patrick

    Published in Clinical genetics
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  2. 2
    Trisomy 7 mosaicism prenatally misdiagnosed and maternal uniparental disomy in a child with pigmentary mosaicism and Russell- Silver syndrome

    Trisomy 7 mosaicism prenatally misdiagnosed and maternal uniparental disomy in a child with pigmentary mosaicism and Russell- Silver syndrome by Petit, F, Holder-Espinasse, M, Duban-Bedu, B, Bouquillon, S, Boute-Benejean, O, Bazin, A, Rouland, V, Manouvrier-Hanu, S, Delobel, B

    Published in Clinical genetics
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  3. 3
    Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting

    Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting by 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

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  4. 4
    Angel shaped phalangeal dysplasia, hip dysplasia, and positional teeth abnormalities are part of the brachydactyly C spectrum associated with CDMP-1 mutations

    Angel shaped phalangeal dysplasia, hip dysplasia, and positional teeth abnormalities are part of the brachydactyly C spectrum associated with CDMP-1 mutations by Holder-Espinasse, M, Escande, F, Mayrargue, E, Dieux-Coeslier, A, Fron, D, Doual-Bisser, A, Boute-Benejean, O, Robert, Y, Porchet, N, Manouvrier-Hanu, S

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  5. 5
    DISSEQ: Double-blind Next-Generation-Sequencing technologies (exome and gene panel) in the diagnosis of a cohort of 330 patients with an intellectual disability: concordance, discrepancies, and efficiencies

    DISSEQ: Double-blind Next-Generation-Sequencing technologies (exome and gene panel) in the diagnosis of a cohort of 330 patients with an intellectual disability: concordance, discr... by Bruel, A., Gerard, B., Piton, A., Mau-Them, F. Tran, Sorlin, A., Sorly, A., Lacombe, D., Manouvrier, S., Edery, P., Philip, Nicole, Genevieve, D., Verloes, A., Odent, S., Thevenon, J., Toutain, A., Bonneau, D., El Chehadeh, S., Doco-Fenzy, M., Isidor, B., Goldenberg, A., Vincent-Delorme, C., Boute-Benejean, O., Lambert, L., Asensio, M., Callier, P., Duffourd, Y., Lejeune, C., Binquet, C., Philippe, C., Faivre, L., Thauvin-Robinet, C.

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  6. 6
    Blau syndrome of granulomatous arthritis, iritis, and skin rash: A new family and review of the literature

    Blau syndrome of granulomatous arthritis, iritis, and skin rash: A new family and review of the literature by Manouvrier-Hanu, S., Puech, B., Piette, F., Boute-Benejean, O., Desbonnet, A., Duquesnoy, B., Farriaux, J.P.

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  7. 7
    Le syndrome de Dyggve-Melchior-Clausen : diagnostic différentiel de la mucopolysaccharidose de type IV ou maladie de Morquio

    Le syndrome de Dyggve-Melchior-Clausen : diagnostic différentiel de la mucopolysaccharidose de type IV ou maladie de Morquio by Coëslier, A, Boute-Bénéjean, O, Moerman, A, Fron, D, Manouvrier-Hanu, S

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  8. 8
    Dyggve-Melchior-Clausen syndrome: differential diagnosis of mucopolysaccharidosis type IV or Morquio disease

    Dyggve-Melchior-Clausen syndrome: differential diagnosis of mucopolysaccharidosis type IV or Morquio disease by Coëslier, A, Boute-Bénéjean, O, Moerman, A, Fron, D, Manouvrier-Hanu, S

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  9. 9
    Angel shaped phalangeal dysplasia, hip dysplasia, and positional teeth abnormalities are part of the brachydactyly C spectrum associated with CDMP-1 mutations

    Angel shaped phalangeal dysplasia, hip dysplasia, and positional teeth abnormalities are part of the brachydactyly C spectrum associated with CDMP-1 mutations by Holder-Espinasse, M, Escande, F, Mayrargue, E, Dieux-Coeslier, A, Fron, D, Doual-Bisser, A, Boute-Benejean, O, Robert, Y, Porchet, N, Manouvrier-Hanu, S

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