Works matching IS 10597794 AND DT 2017 AND VI 38 AND IP 4

Results: 17
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    Cover Image, Volume 38, Issue 4.

    Published in:
    Human Mutation, 2017, v. 38, n. 4, p. i, doi. 10.1002/humu.23215
    By:
    • Pannone, Luca;
    • Bocchinfuso, Gianfranco;
    • Flex, Elisabetta;
    • Rossi, Cesare;
    • Baldassarre, Giuseppina;
    • Lissewski, Christina;
    • Pantaleoni, Francesca;
    • Consoli, Federica;
    • Lepri, Francesca;
    • Magliozzi, Monia;
    • Anselmi, Massimiliano;
    • Delle Vigne, Silvia;
    • Sorge, Giovanni;
    • Karaer, Kadri;
    • Cuturilo, Goran;
    • Sartorio, Alessandro;
    • Tinschert, Sigrid;
    • Accadia, Maria;
    • Digilio, Maria C.;
    • Zampino, Giuseppe
    Publication type:
    Article
    3

    Rare Deleterious PARD3 Variants in the aPKC-Binding Region are Implicated in the Pathogenesis of Human Cranial Neural Tube Defects Via Disrupting Apical Tight Junction Formation.

    Published in:
    Human Mutation, 2017, v. 38, n. 4, p. 378, doi. 10.1002/humu.23153
    By:
    • Chen, Xiaoli;
    • An, Yu;
    • Gao, Yonghui;
    • Guo, Liu;
    • Rui, Lei;
    • Xie, Hua;
    • Sun, Mei;
    • Lam Hung, Siv;
    • Sheng, Xiaoming;
    • Zou, Jizhen;
    • Bao, Yihua;
    • Guan, Hongyan;
    • Niu, Bo;
    • Li, Zandong;
    • Finnell, Richard H.;
    • Gusella, James F.;
    • Wu, Bai‐Lin;
    • Zhang, Ting
    Publication type:
    Article
    4
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    EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO.

    Published in:
    Human Mutation, 2017, v. 38, n. 4, p. 409, doi. 10.1002/humu.23170
    By:
    • Skopkova, Martina;
    • Hennig, Friederike;
    • Shin, Byung‐Sik;
    • Turner, Clesson E.;
    • Stanikova, Daniela;
    • Brennerova, Katarina;
    • Stanik, Juraj;
    • Fischer, Ute;
    • Henden, Lyndal;
    • Müller, Ulrich;
    • Steinberger, Daniela;
    • Leshinsky‐Silver, Esther;
    • Bottani, Armand;
    • Kurdiova, Timea;
    • Ukropec, Jozef;
    • Nyitrayova, Olga;
    • Kolnikova, Miriam;
    • Klimes, Iwar;
    • Borck, Guntram;
    • Bahlo, Melanie
    Publication type:
    Article
    6

    Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications.

    Published in:
    Human Mutation, 2017, v. 38, n. 4, p. 365, doi. 10.1002/humu.23192
    By:
    • Janecke, Andreas R.;
    • Xu, Ruijuan;
    • Steichen‐Gersdorf, Elisabeth;
    • Waldegger, Siegfried;
    • Entenmann, Andreas;
    • Giner, Thomas;
    • Krainer, Iris;
    • Huber, Lukas A;
    • Hess, Michael W;
    • Frishberg, Yaacov;
    • Barash, Hila;
    • Tzur, Shay;
    • Schreyer‐Shafir, Nira;
    • Sukenik–Halevy, Rivka;
    • Zehavi, Tania;
    • Raas‐Rothschild, Annick;
    • Mao, Cungui;
    • Müller, Thomas
    Publication type:
    Article
    7

    Issue Information.

    Published in:
    Human Mutation, 2017, v. 38, n. 4, p. 333, doi. 10.1002/humu.23076
    Publication type:
    Article
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    ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy.

    Published in:
    Human Mutation, 2017, v. 38, n. 4, p. 426, doi. 10.1002/humu.23172
    By:
    • Böhm, Johann;
    • Bulla, Monica;
    • Urquhart, Jill E.;
    • Malfatti, Edoardo;
    • Williams, Simon G.;
    • O'Sullivan, James;
    • Szlauer, Anastazja;
    • Koch, Catherine;
    • Baranello, Giovanni;
    • Mora, Marina;
    • Ripolone, Michela;
    • Violano, Raffaella;
    • Moggio, Maurizio;
    • Kingston, Helen;
    • Dawson, Timothy;
    • DeGoede, Christian G.;
    • Nixon, John;
    • Boland, Anne;
    • Deleuze, Jean‐François;
    • Romero, Norma
    Publication type:
    Article
    11
    12

    Transdifferentiation of Human Dermal Fibroblasts to Smooth Muscle-Like Cells to Study the Effect of MYH11 and ACTA2 Mutations in Aortic Aneurysms.

    Published in:
    Human Mutation, 2017, v. 38, n. 4, p. 439, doi. 10.1002/humu.23174
    By:
    • Yeung, Kak K.;
    • Bogunovic, Natalija;
    • Keekstra, Niels;
    • Beunders, Adriaan A.M.;
    • Pals, Jorrit;
    • Kuij, Kim;
    • Overwater, Eline;
    • Wisselink, Willem;
    • Blankensteijn, Jan D.;
    • Hinsbergh, Victor W.M.;
    • Musters, Rene J.P.;
    • Pals, Gerard;
    • Micha, Dimitra;
    • Zandieh‐Doulabi, Behrouz
    Publication type:
    Article
    13

    Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome.

    Published in:
    Human Mutation, 2017, v. 38, n. 4, p. 451, doi. 10.1002/humu.23175
    By:
    • Pannone, Luca;
    • Bocchinfuso, Gianfranco;
    • Flex, Elisabetta;
    • Rossi, Cesare;
    • Baldassarre, Giuseppina;
    • Lissewski, Christina;
    • Pantaleoni, Francesca;
    • Consoli, Federica;
    • Lepri, Francesca;
    • Magliozzi, Monia;
    • Anselmi, Massimiliano;
    • Delle Vigne, Silvia;
    • Sorge, Giovanni;
    • Karaer, Kadri;
    • Cuturilo, Goran;
    • Sartorio, Alessandro;
    • Tinschert, Sigrid;
    • Accadia, Maria;
    • Digilio, Maria C.;
    • Zampino, Giuseppe
    Publication type:
    Article
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