Found: 10

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  • Refining the phenotype associated with biallelic DNAJC21 mutations.

    Published in:
    Clinical Genetics, 2018, v. 94, n. 2, p. 252, doi. 10.1111/cge.13370
    By:
    • D'Amours, G.;
    • Lopes, F.;
    • Gauthier, J.;
    • Saillour, V.;
    • Nassif, C.;
    • Wynn, R.;
    • Alos, N.;
    • Leblanc, T.;
    • Capri, Y.;
    • Nizard, S.;
    • Lemyre, E.;
    • Michaud, J. L.;
    • Pelletier, V.‐A.;
    • Pastore, Y. D.;
    • Soucy, J.‐F.
    Publication type:
    Article

  • <italic>INTU</italic>‐related oral‐facial‐digital syndrome type VI: A confirmatory report.

    Published in:
    Clinical Genetics, 2018, v. 93, n. 6, p. 1205, doi. 10.1111/cge.13238
    By:
    • Bruel, A.‐L.;
    • Levy, J.;
    • Elenga, N.;
    • Defo, A.;
    • Favre, A.;
    • Lucron, H.;
    • Capri, Y.;
    • Perrin, L.;
    • Passemard, S.;
    • Vial, Y.;
    • Tabet, A.‐C.;
    • Faivre, L.;
    • Thauvin‐Robinet, C.;
    • Verloes, A.
    Publication type:
    Article

  • Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations.

    Published in:
    Clinical Genetics, 2017, v. 92, n. 3, p. 298, doi. 10.1111/cge.13010
    By:
    • Lehman, N.;
    • Mazery, A.C.;
    • Visier, A.;
    • Baumann, C.;
    • Lachesnais, D.;
    • Capri, Y.;
    • Toutain, A.;
    • Odent, S.;
    • Mikaty, M.;
    • Goizet, C.;
    • Taupiac, E.;
    • Jacquemont, M.L.;
    • Sanchez, E.;
    • Schaefer, E.;
    • Gatinois, V.;
    • Faivre, L.;
    • Minot, D.;
    • Kayirangwa, H.;
    • Sang, K.‐H.L.Q.;
    • Boddaert, N.
    Publication type:
    Article

  • 努南综合征的皮肤病表现.

    Published in:
    British Journal of Dermatology, 2019, v. 180, n. 6, p. e266, doi. 10.1111/bjd.17978
    By:
    • Bessis, D.;
    • Miquel, J.;
    • Bourrat, E.;
    • Chiaverini, C.;
    • Morice‐Picard, F.;
    • Abadie, C.;
    • Manna, F.;
    • Baumann, C.;
    • Best, M.;
    • Blanchet, P.;
    • Bursztejn, A.‐C.;
    • Capri, Y.;
    • Coubes, C.;
    • Giuliano, F.;
    • Guillaumont, S.;
    • Hadj‐Rabia, S.;
    • Jacquemont, M.‐L.;
    • Jeandel, C.;
    • Lacombe, D.;
    • Mallet, S.
    Publication type:
    Article

  • Dermatological manifestations in Noonan syndrome.

    Published in:
    British Journal of Dermatology, 2019, v. 180, n. 6, p. e249, doi. 10.1111/bjd.17961
    By:
    • Bessis, D.;
    • Miquel, J.;
    • Bourrat, E.;
    • Chiaverini, C.;
    • Morice‐Picard, F.;
    • Abadie, C.;
    • Manna, F.;
    • Baumann, C.;
    • Best, M.;
    • Blanchet, P.;
    • Bursztejn, A.‐C.;
    • Capri, Y.;
    • Coubes, C.;
    • Giuliano, F.;
    • Guillaumont, S.;
    • Hadj‐Rabia, S.;
    • Jacquemont, M.‐L.;
    • Jeandel, C.;
    • Lacombe, D.;
    • Mallet, S.
    Publication type:
    Article

  • Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation.

    Published in:
    British Journal of Dermatology, 2019, v. 180, n. 6, p. 1438, doi. 10.1111/bjd.17404
    By:
    • Bessis, D.;
    • Miquel, J.;
    • Bourrat, E.;
    • Chiaverini, C.;
    • Morice‐Picard, F.;
    • Abadie, C.;
    • Manna, F.;
    • Baumann, C.;
    • Best, M.;
    • Blanchet, P.;
    • Bursztejn, A.‐C.;
    • Capri, Y.;
    • Coubes, C.;
    • Giuliano, F.;
    • Guillaumont, S.;
    • Hadj‐Rabia, S.;
    • Jacquemont, M.‐L.;
    • Jeandel, C.;
    • Lacombe, D.;
    • Mallet, S.
    Publication type:
    Article

  • 心脸皮肤综合症中的皮肤表现.

    Published in:
    British Journal of Dermatology, 2019, v. 180, n. 1, p. e30, doi. 10.1111/bjd.17385
    By:
    • Bessis, D.;
    • Morice‐Picard, F.;
    • Bourrat, E.;
    • Abadie, C.;
    • Aouinti, S.;
    • Baumann, C.;
    • Best, M.;
    • Bursztejn, A.‐C.;
    • Capri, Y.;
    • Chiaverini, C.;
    • Coubes, C.;
    • Giuliano, F.;
    • Hadj‐Rabia, S.;
    • Jacquemont, M.‐L.;
    • Lacombe, D.;
    • Lyonnet, S.;
    • Mallet, S.;
    • Mazereeuw‐Hautier, J.;
    • Miquel, J.;
    • Molinari, N.
    Publication type:
    Article

  • Dermatological manifestations in cardiofaciocutaneous syndrome.

    Published in:
    British Journal of Dermatology, 2019, v. 180, n. 1, p. e17, doi. 10.1111/bjd.17371
    By:
    • Bessis, D.;
    • Morice‐Picard, F.;
    • Bourrat, E.;
    • Abadie, C.;
    • Aouinti, S.;
    • Baumann, C.;
    • Best, M.;
    • Bursztejn, A.‐C.;
    • Capri, Y.;
    • Chiaverini, C.;
    • Coubes, C.;
    • Giuliano, F.;
    • Hadj‐Rabia, S.;
    • Jacquemont, M.‐L.;
    • Lacombe, D.;
    • Lyonnet, S.;
    • Mallet, S.;
    • Mazereeuw‐Hautier, J.;
    • Miquel, J.;
    • Molinari, N.
    Publication type:
    Article

  • Beckwith-Wiedemann syndrome and long QT syndrome due to familial-balanced translocation t(11;17)(p15.5;q21.3) involving the KCNQ1 gene.

    Published in:
    Clinical Genetics, 2013, v. 84, n. 1, p. 78, doi. 10.1111/cge.12038
    By:
    • Kaltenbach, S;
    • Capri, Y;
    • Rossignol, S;
    • Denjoy, I;
    • Soudée, S;
    • Aboura, A;
    • Baumann, C;
    • Verloes, A
    Publication type:
    Article

  • SATB2-associated syndrome: characterization of skeletal features and of bone fragility in a prospective cohort of 19 patients.

    Published in:
    2022
    By:
    • Mouillé, M.;
    • Rio, M.;
    • Breton, S.;
    • Piketty, M. L.;
    • Afenjar, A.;
    • Amiel, J.;
    • Capri, Y.;
    • Goldenberg, A.;
    • Francannet, C.;
    • Michot, C.;
    • Mignot, C.;
    • Perrin, L.;
    • Quelin, C.;
    • Van Gils, J.;
    • Barcia, G.;
    • Pingault, V.;
    • Maruani, G.;
    • Koumakis, E.;
    • Cormier-Daire, V.
    Publication type:
    Journal Article