Works matching IS 15524825 AND DT 2017 AND VI 173 AND IP 9

Results: 46
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    Noonan syndrome in diverse populations.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2323, doi. 10.1002/ajmg.a.38362
    By:
    • Kruszka, Paul;
    • Porras, Antonio R.;
    • Addissie, Yonit A.;
    • Moresco, Angélica;
    • Medrano, Sofia;
    • Mok, Gary T. K.;
    • Leung, Gordon K. C.;
    • Tekendo‐Ngongang, Cedrik;
    • Uwineza, Annette;
    • Thong, Meow‐Keong;
    • Muthukumarasamy, Premala;
    • Honey, Engela;
    • Ekure, Ekanem N.;
    • Sokunbi, Ogochukwu J.;
    • Kalu, Nnenna;
    • Jones, Kelly L.;
    • Kaplan, Julie D.;
    • Abdul‐Rahman, Omar A.;
    • Vincent, Lisa M.;
    • Love, Amber
    Publication type:
    Article
    3

    Expansion of the phenotype of Kosaki overgrowth syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2422, doi. 10.1002/ajmg.a.38310
    By:
    • Minatogawa, Mari;
    • Takenouchi, Toshiki;
    • Tsuyusaki, Yu;
    • Iwasaki, Fuminori;
    • Uehara, Tomoko;
    • Kurosawa, Kenji;
    • Kosaki, Kenjiro;
    • Curry, Cynthia J.
    Publication type:
    Article
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    Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2451, doi. 10.1002/ajmg.a.38315
    By:
    • Jehee, Fernanda S.;
    • de Oliveira, Valdirene T.;
    • Gurgel‐Giannetti, Juliana;
    • Pietra, Rafaella X.;
    • Rubatino, Fernando V. M.;
    • Carobin, Natália V.;
    • Vianna, Gabrielle S.;
    • de Freitas, Mariana L.;
    • Fernandes, Karla S.;
    • Ribeiro, Beatriz S. V.;
    • Brüggenwirth, Hennie T.;
    • Ali‐Amin, Roza;
    • White, Janson J.;
    • Akdemir, Zeynep C.;
    • Jhangiani, Shalini N.;
    • Gibbs, Richard A.;
    • Lupski, James R.;
    • Varela, Monica C.;
    • Koiffmann, Célia;
    • Rosenberg, Carla
    Publication type:
    Article
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    Variants in KAT6A and pituitary anomalies.

    Published in:
    2017
    By:
    • Zwaveling‐Soonawala, Nitash;
    • Maas, Saskia M.;
    • Alders, Marielle;
    • Majoie, Charles B.;
    • Fliers, Eric;
    • van Trotsenburg, A. S. Paul;
    • Hennekam, Raoul C. M.
    Publication type:
    Other
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    Cover Image, Volume 173A, Number 9, September 2017.

    Published in:
    2017
    By:
    • Kruszka, Paul;
    • Porras, Antonio R.;
    • Addissie, Yonit A.;
    • Moresco, Angélica;
    • Medrano, Sofia;
    • Mok, Gary T. K.;
    • Leung, Gordon K. C.;
    • Tekendo‐Ngongang, Cedrik;
    • Uwineza, Annette;
    • Thong, Meow‐Keong;
    • Muthukumarasamy, Premala;
    • Honey, Engela;
    • Ekure, Ekanem N.;
    • Sokunbi, Ogochukwu J.;
    • Kalu, Nnenna;
    • Jones, Kelly L.;
    • Kaplan, Julie D.;
    • Abdul‐Rahman, Omar A.;
    • Vincent, Lisa M.;
    • Love, Amber
    Publication type:
    Other
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    Growth hormone excess in children with neurofibromatosis type-1 and optic glioma.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2353, doi. 10.1002/ajmg.a.38308
    By:
    • Cambiaso, Paola;
    • Galassi, Stefania;
    • Palmiero, Melania;
    • Mastronuzzi, Angela;
    • Del Bufalo, Francesca;
    • Capolino, Rossella;
    • Cacchione, Antonella;
    • Buonuomo, Paola S.;
    • Gonfiantini, Michaela V.;
    • Bartuli, Andrea;
    • Cappa, Marco;
    • Macchiaiolo, Marina
    Publication type:
    Article
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    Motor performance in children with Noonan syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2335, doi. 10.1002/ajmg.a.38322
    By:
    • Croonen, Ellen A.;
    • Essink, Marlou;
    • van der Burgt, Ineke;
    • Draaisma, Jos M.;
    • Noordam, Cees;
    • Nijhuis‐van der Sanden, Maria W. G.
    Publication type:
    Article
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    von Hippel-Lindau development in children and adolescents.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2381, doi. 10.1002/ajmg.a.38324
    By:
    • Launbjerg, Karoline;
    • Bache, Iben;
    • Galanakis, Michael;
    • Bisgaard, Marie Luise;
    • Binderup, Marie Louise M.
    Publication type:
    Article
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    A novel microduplication of ARID1B: Clinical, genetic, and proteomic findings.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2478, doi. 10.1002/ajmg.a.38327
    By:
    • Seabra, Catarina M.;
    • Szoko, Nicholas;
    • Erdin, Serkan;
    • Ragavendran, Ashok;
    • Stortchevoi, Alexei;
    • Maciel, Patrícia;
    • Lundberg, Kathleen;
    • Schlatzer, Daniela;
    • Smith, Janice;
    • Talkowski, Michael E.;
    • Gusella, James F.;
    • Natowicz, Marvin R.
    Publication type:
    Article
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    Two patients with the heterozygous R189H mutation in ACTA2 and Complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2566, doi. 10.1002/ajmg.a.38329
    By:
    • Logeswaran, Thushiha;
    • Friedburg, Christoph;
    • Hofmann, Karoline;
    • Akintuerk, Hakan;
    • Biskup, Saskia;
    • Graef, Michael;
    • Rad, Ali;
    • Weber, Axel;
    • Neubauer, Bernd A.;
    • Schranz, Dietmar;
    • Bouvagnet, Patrice;
    • Lorenz, Birgit;
    • Hahn, Andreas
    Publication type:
    Article
    35

    Marfan syndrome with a homozygous FBN1 splicing mutation.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2435, doi. 10.1002/ajmg.a.38278
    By:
    • Lu, Xin‐Xin;
    • Xie, Qi;
    • Wang, Ren;
    • Zhang, Biao;
    • Guo, Dan‐Dan;
    • Huang, Xiao‐Li;
    • Chen, Xi‐Jun;
    • Wu, Yan‐An
    Publication type:
    Article
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    Autopsy findings in EPG5-related Vici syndrome with antenatal onset.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2522, doi. 10.1002/ajmg.a.38342
    By:
    • Touraine, Renaud;
    • Laquerrière, Annie;
    • Petcu, Carmen‐Adina;
    • Marguet, Florent;
    • Byrne, Susan;
    • Mein, Rachael;
    • Yau, Shu;
    • Mohammed, Shehla;
    • Guibaud, Laurent;
    • Gautel, Mathias;
    • Jungbluth, Heinz
    Publication type:
    Article
    39

    Automatic recognition of the XLHED phenotype from facial images.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2408, doi. 10.1002/ajmg.a.38343
    By:
    • Hadj‐Rabia, Smail;
    • Schneider, Holm;
    • Navarro, Elena;
    • Klein, Ophir;
    • Kirby, Neil;
    • Huttner, Kenneth;
    • Wolf, Lior;
    • Orin, Melanie;
    • Wohlfart, Sigrun;
    • Bodemer, Christine;
    • Grange, Dorothy K.
    Publication type:
    Article
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