Works matching IS 15524825 AND DT 2018 AND VI 176 AND IP 5

Results: 36
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    Cover Image, Volume 176A, Number 5, May 2018.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1, doi. 10.1002/ajmg.a.38714
    By:
    • Kruszka, Paul;
    • Porras, Antonio R.;
    • de Souza, Deise Helena;
    • Moresco, Angélica;
    • Huckstadt, Victoria;
    • Gill, Ashleigh D.;
    • Boyle, Alec P.;
    • Hu, Tommy;
    • Addissie, Yonit A.;
    • Mok, Gary T. K.;
    • Tekendo‐Ngongang, Cedrik;
    • Fieggen, Karen;
    • Prijoles, Eloise J.;
    • Tanpaiboon, Pranoot;
    • Honey, Engela;
    • Luk, Ho‐Ming;
    • Lo, Ivan F. M.;
    • Thong, Meow‐Keong;
    • Muthukumarasamy, Premala;
    • Jones, Kelly L.
    Publication type:
    Article
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    Novel de novo <italic>ZBTB20</italic> mutations in three cases with Primrose syndrome and constant corpus callosum anomalies.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1091, doi. 10.1002/ajmg.a.38684
    By:
    • Alby, Caroline;
    • Boutaud, Lucile;
    • Bessières, Bettina;
    • Serre, Valérie;
    • Rio, Marlene;
    • Cormier‐Daire, Valerie;
    • de Oliveira, Judith;
    • Ichkou, Amale;
    • Mouthon, Linda;
    • Gordon, Christopher T.;
    • Bonnière, Maryse;
    • Mechler, Charlotte;
    • Nitschke, Patrick;
    • Bole, Christine;
    • Lyonnet, Stanislas;
    • Bahi‐Buisson, Nadia;
    • Boddaert, Nathalie;
    • Colleaux, Laurence;
    • Roth, Philippe;
    • Ville, Yves
    Publication type:
    Article
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    Safety and efficacy of noncardiac surgical procedures in the management of patients with trisomy 13: A single institution‐based detailed clinical observation.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1137, doi. 10.1002/ajmg.a.38678
    By:
    • Shibuya, Soichi;
    • Miyake, Yuichiro;
    • Takamizawa, Shigeru;
    • Nishi, Eriko;
    • Yoshizawa, Katsumi;
    • Hatata, Tomoko;
    • Yoshizawa, Kazuki;
    • Fujita, Kenya;
    • Noguchi, Masahiko;
    • Ohata, Jun;
    • Hiroma, Takehiko;
    • Nakamura, Tomohiko;
    • Kosho, Tomoki
    Publication type:
    Article
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    2016 Children's Tumor Foundation conference on neurofibromatosis type 1, neurofibromatosis type 2, and schwannomatosis.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1258, doi. 10.1002/ajmg.a.38675
    By:
    • Fisher, Michael J.;
    • Belzberg, Allan J.;
    • de Blank, Peter;
    • De Raedt, Thomas;
    • Elefteriou, Florent;
    • Ferner, Rosalie E.;
    • Giovannini, Marco;
    • Harris, Gordon J.;
    • Kalamarides, Michel;
    • Karajannis, Matthias A.;
    • Kim, AeRang;
    • Lázaro, Conxi;
    • Le, Lu Q.;
    • Li, Wei;
    • Listernick, Robert;
    • Martin, Staci;
    • Morrison, Helen;
    • Pasmant, Eric;
    • Ratner, Nancy;
    • Schorry, Elisabeth
    Publication type:
    Article
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    Williams–Beuren syndrome in diverse populations.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1128, doi. 10.1002/ajmg.a.38672
    By:
    • Kruszka, Paul;
    • Porras, Antonio R.;
    • de Souza, Deise Helena;
    • Moresco, Angélica;
    • Huckstadt, Victoria;
    • Gill, Ashleigh D.;
    • Boyle, Alec P.;
    • Hu, Tommy;
    • Addissie, Yonit A.;
    • Mok, Gary T. K.;
    • Tekendo‐Ngongang, Cedrik;
    • Fieggen, Karen;
    • Prijoles, Eloise J.;
    • Tanpaiboon, Pranoot;
    • Honey, Engela;
    • Luk, Ho‐Ming;
    • Lo, Ivan F. M.;
    • Thong, Meow‐Keong;
    • Muthukumarasamy, Premala;
    • Jones, Kelly L.
    Publication type:
    Article
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    A patient with peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and severe hypoganglionosis associated with a novel <italic>SOX10</italic> mutation.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1195, doi. 10.1002/ajmg.a.38657
    By:
    • Akutsu, Yuko;
    • Shirai, Kentaro;
    • Takei, Akira;
    • Goto, Yudai;
    • Aoyama, Tomohiro;
    • Watanabe, Akimitu;
    • Imamura, Masatoshi;
    • Enokizono, Takashi;
    • Ohto, Tatsuyuki;
    • Hori, Tetsuo;
    • Suzuki, Keiko;
    • Hayashi, Masaharu;
    • Masumoto, Kouji;
    • Inoue, Ken
    Publication type:
    Article
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    Clinical, biochemical, and genetic features of four patients with short‐chain enoyl‐CoA hydratase (ECHS1) deficiency.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1115, doi. 10.1002/ajmg.a.38658
    By:
    • Fitzsimons, Patricia E.;
    • Alston, Charlotte L.;
    • Bonnen, Penelope E.;
    • Hughes, Joanne;
    • Crushell, Ellen;
    • Geraghty, Michael T.;
    • Tetreault, Martine;
    • O'Reilly, Peter;
    • Twomey, Eilish;
    • Sheikh, Yusra;
    • Walsh, Richard;
    • Waterham, Hans R.;
    • Ferdinandusse, Sacha;
    • Wanders, Ronald J. A.;
    • Taylor, Robert W.;
    • Pitt, James J.;
    • Mayne, Philip D.
    Publication type:
    Article
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    Extending the phenotype associated with the <italic>CSNK2A1‐</italic>related Okur–Chung syndrome—A clinical study of 11 individuals.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1108, doi. 10.1002/ajmg.a.38610
    By:
    • Owen, Ceris I.;
    • Bowden, Ramsay;
    • Parker, Michael J.;
    • Patterson, Jo;
    • Patterson, Joan;
    • Price, Sue;
    • Sarkar, Ajoy;
    • Castle, Bruce;
    • Deshpande, Charulatha;
    • Splitt, Miranda;
    • Ghali, Neeti;
    • Dean, John;
    • Green, Andrew J.;
    • Crosby, Charlene;
    • Deciphering Developmental Disorders Study;
    • Tatton‐Brown, Katrina
    Publication type:
    Article
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    In this issue.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1047, doi. 10.1002/ajmg.a.38435
    Publication type:
    Article
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    Identification of a novel homozygous <italic>ALX4</italic> mutation in two unrelated patients with frontonasal dysplasia type‐2.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1190, doi. 10.1002/ajmg.a.38655
    By:
    • El‐Ruby, Mona;
    • El‐Din Fayez, Alaa;
    • El‐Dessouky, Sara H.;
    • Aglan, Mona S.;
    • Mazen, Inas;
    • Ismail, Nora;
    • Afifi, Hanan H.;
    • Eid, Maha M.;
    • Mostafa, Mostafa I.;
    • Mehrez, Mennat I.;
    • Khalil, Yasmin;
    • Zaki, Maha S.;
    • Gaber, Khaled R.;
    • Abdel‐Hamid, Mohamed S.;
    • Abdel‐Salam, Ghada M. H.
    Publication type:
    Article
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    Phenotypic heterogeneity of ZMPSTE24 deficiency.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1175, doi. 10.1002/ajmg.a.38493
    By:
    • Cassini, Thomas A.;
    • Robertson, Amy K.;
    • Bican, Anna G.;
    • Cogan, Joy D.;
    • Hannig, Vickie L.;
    • Newman, John H.;
    • Hamid, Rizwan;
    • Phillips, III, John A.;
    • the Undiagnosed Diseases Network
    Publication type:
    Article
    33

    A randomized controlled trial of levodopa in patients with Angelman syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1099, doi. 10.1002/ajmg.a.38457
    By:
    • Tan, Wen‐Hann;
    • Bird, Lynne M.;
    • Sadhwani, Anjali;
    • Barbieri‐Welge, Rene L.;
    • Skinner, Steven A.;
    • Horowitz, Lucia T.;
    • Bacino, Carlos A.;
    • Noll, Lisa M.;
    • Fu, Cary;
    • Hundley, Rachel J.;
    • Wink, Logan K.;
    • Erickson, Craig A.;
    • Barnes, Gregory N.;
    • Slavotinek, Anne;
    • Jeremy, Rita;
    • Rotenberg, Alexander;
    • Kothare, Sanjeev V.;
    • Olson, Heather E.;
    • Poduri, Annapurna;
    • Nespeca, Mark P.
    Publication type:
    Article
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    Van Maldergem syndrome and Hennekam syndrome: Further delineation of allelic phenotypes.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1166, doi. 10.1002/ajmg.a.38652
    By:
    • Ivanovski, Ivan;
    • Akbaroghli, Susan;
    • Pollazzon, Marzia;
    • Gelmini, Chiara;
    • Caraffi, Stefano Giuseppe;
    • Mansouri, Mahboubeh;
    • Chavoshzadeh, Zahra;
    • Rosato, Simonetta;
    • Polizzi, Valeria;
    • Gargano, Giancarlo;
    • Alders, Marielle;
    • Garavelli, Livia;
    • Hennekam, Raoul C.
    Publication type:
    Article
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    Publication schedule for 2018.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1043, doi. 10.1002/ajmg.a.38434
    Publication type:
    Article
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