Works matching IS 00099163 AND DT 2016 AND VI 90 AND IP 6

Results: 15
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    Molecular genetic analysis of 30 families with Joubert syndrome.

    Published in:
    Clinical Genetics, 2016, v. 90, n. 6, p. 526, doi. 10.1111/cge.12836
    By:
    • Suzuki, T.;
    • Miyake, N.;
    • Tsurusaki, Y.;
    • Okamoto, N.;
    • Alkindy, A.;
    • Inaba, A.;
    • Sato, M.;
    • Ito, S.;
    • Muramatsu, K.;
    • Kimura, S.;
    • Ieda, D.;
    • Saitoh, S.;
    • Hiyane, M.;
    • Suzumura, H.;
    • Yagyu, K.;
    • Shiraishi, H.;
    • Nakajima, M.;
    • Fueki, N.;
    • Habata, Y.;
    • Ueda, Y.
    Publication type:
    Article
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    Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II.

    Published in:
    Clinical Genetics, 2016, v. 90, n. 6, p. 496, doi. 10.1111/cge.12795
    By:
    • Uttarilli, A.;
    • Ranganath, P.;
    • Matta, D.;
    • Md Nurul Jain, J.;
    • Prasad, K.;
    • Babu, A.S.;
    • Girisha, K.M.;
    • Verma, I.C.;
    • Phadke, S.R.;
    • Mandal, K.;
    • Puri, R.D.;
    • Aggarwal, S.;
    • Danda, S.;
    • Sankar, V.H.;
    • Kapoor, S.;
    • Bhat, M.;
    • Gowrishankar, K.;
    • Hasan, A.Q.;
    • Nair, M.;
    • Nampoothiri, S.
    Publication type:
    Article
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    Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome.

    Published in:
    Clinical Genetics, 2016, v. 90, n. 6, p. 550, doi. 10.1111/cge.12781
    By:
    • Putoux, A.;
    • Alqahtani, A.;
    • Pinson, L.;
    • Paulussen, A.D.C.;
    • Michel, J.;
    • Besson, A.;
    • Mazoyer, S.;
    • Borg, I.;
    • Nampoothiri, S.;
    • Vasiljevic, A.;
    • Uwineza, A.;
    • Boggio, D.;
    • Champion, F.;
    • de Die‐Smulders, C.E.;
    • Gardeitchik, T.;
    • van Putten, W.K.;
    • Perez, M.J.;
    • Musizzano, Y.;
    • Razavi, F.;
    • Drunat, S.
    Publication type:
    Article
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    Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia.

    Published in:
    Clinical Genetics, 2016, v. 90, n. 6, p. 509, doi. 10.1111/cge.12785
    By:
    • Thevenon, J.;
    • Duplomb, L.;
    • Phadke, S.;
    • Eguether, T.;
    • Saunier, A.;
    • Avila, M.;
    • Carmignac, V.;
    • Bruel, A.‐L.;
    • St‐Onge, J.;
    • Duffourd, Y.;
    • Pazour, G.J.;
    • Franco, B.;
    • Attie‐Bitach, T.;
    • Masurel‐Paulet, A.;
    • Rivière, J.‐B.;
    • Cormier‐Daire, V.;
    • Philippe, C.;
    • Faivre, L.;
    • Thauvin‐Robinet, C.
    Publication type:
    Article
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