Works matching IS 15524825 AND DT 2019 AND VI 179 AND IP 9

Results: 31
    1

    In This Issue.

    Published in:
    American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1687, doi. 10.1002/ajmg.a.61320
    Publication type:
    Article
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    Maternal risk factors for congenital heart defects in infants with Down syndrome from Western Mexico.

    Published in:
    American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1857, doi. 10.1002/ajmg.a.61300
    By:
    • Corona‐Rivera, Jorge Román;
    • Nieto‐García, Rafael;
    • Gutiérrez‐Chávez, Andrea S.;
    • Bobadilla‐Morales, Lucina;
    • Rios‐Flores, Izabel M.;
    • Corona‐Rivera, Alfredo;
    • Fabián‐Morales, Gerardo E.;
    • Zavala‐Cortés, Ignacio;
    • Lugo‐Iglesias, Cynthia;
    • Peña‐Padilla, Christian
    Publication type:
    Article
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    Cover Image, Volume 179A, Number 9, September 2019.

    Published in:
    American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. i, doi. 10.1002/ajmg.a.61318
    By:
    • Gazzin, Andrea;
    • Carli, Diana;
    • Sirchia, Fabio;
    • Molinatto, Cristina;
    • Cardaropoli, Simona;
    • Palumbo, Giuseppe;
    • Zampino, Giuseppe;
    • Ferrero, Giovanni Battista;
    • Mussa, Alessandro
    Publication type:
    Article
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    Epidemiology of achondroplasia: A population‐based study in Europe.

    Published in:
    American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1791, doi. 10.1002/ajmg.a.61289
    By:
    • Coi, Alessio;
    • Santoro, Michele;
    • Garne, Ester;
    • Pierini, Anna;
    • Addor, Marie‐Claude;
    • Alessandri, Jean‐Luc;
    • Bergman, Jorieke E. H.;
    • Bianchi, Fabrizio;
    • Boban, Ljubica;
    • Braz, Paula;
    • Cavero‐Carbonell, Clara;
    • Gatt, Miriam;
    • Haeusler, Martin;
    • Klungsøyr, Kari;
    • Kurinczuk, Jennifer J.;
    • Lanzoni, Monica;
    • Lelong, Nathalie;
    • Luyt, Karen;
    • Mokoroa, Olatz;
    • Mullaney, Carmel
    Publication type:
    Article
    13

    GATA6 mutations: Characterization of two novel patients and a comprehensive overview of the GATA6 genotypic and phenotypic spectrum.

    Published in:
    American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1836, doi. 10.1002/ajmg.a.61294
    By:
    • Škorić‐Milosavljević, Doris;
    • Tjong, Fleur V. Y.;
    • Barc, Julien;
    • Backx, Ad P. C. M.;
    • Clur, Sally‐Ann B.;
    • Spaendonck‐Zwarts, Karin;
    • Oostra, Roelof‐Jan;
    • Lahrouchi, Najim;
    • Beekman, Leander;
    • Bökenkamp, Regina;
    • Barge‐Schaapveld, Daniela Q. C. M.;
    • Mulder, Barbara J.;
    • Lodder, Elisabeth M.;
    • Bezzina, Connie R.;
    • Postma, Alex V.
    Publication type:
    Article
    14

    Annemarie Sommer memorial.

    Published in:
    American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1689, doi. 10.1002/ajmg.a.61287
    By:
    • Hudgins, Louanne
    Publication type:
    Article
    15
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    PAPSS2‐related brachyolmia: Clinical and radiological phenotype in 18 new cases.

    Published in:
    American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1884, doi. 10.1002/ajmg.a.61282
    By:
    • Bownass, Lucy;
    • Abbs, Stephen;
    • Armstrong, Ruth;
    • Baujat, Genevieve;
    • Behzadi, Gry;
    • Berentsen, Ragnhild Drage;
    • Burren, Christine;
    • Calder, Alistair;
    • Cormier‐Daire, Valérie;
    • Newbury‐Ecob, Ruth;
    • Foulds, Nicola;
    • Juliusson, Petur B.;
    • Kant, Sarina G.;
    • Lefroy, Henrietta;
    • Mehta, Sarju G.;
    • Merckoll, Else;
    • Michot, Caroline;
    • Monsell, Fergal;
    • Offiah, Amaka C.;
    • Richards, Allan
    Publication type:
    Article
    17

    Expanding phenotype with severe midline brain anomalies and missense variant supports a causal role for FOXA2 in 20p11.2 deletion syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1783, doi. 10.1002/ajmg.a.61281
    By:
    • Dines, Jennifer N.;
    • Liu, Yajuan J.;
    • Neufeld‐Kaiser, Whitney;
    • Sawyer, Taylor;
    • Ishak, Gisele E.;
    • Tully, Hannah M.;
    • Racobaldo, Melissa;
    • Sanchez‐Valle, Amarilis;
    • Disteche, Christine M.;
    • Juusola, Jane;
    • Torti, Erin;
    • McWalter, Kirsty;
    • Doherty, Dan;
    • Dipple, Katrina M.
    Publication type:
    Article
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    Costello syndrome: Clinical phenotype, genotype, and management guidelines.

    Published in:
    American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1725, doi. 10.1002/ajmg.a.61270
    By:
    • Gripp, Karen W.;
    • Morse, Lindsey A.;
    • Axelrad, Marni;
    • Chatfield, Kathryn C.;
    • Chidekel, Aaron;
    • Dobyns, William;
    • Doyle, Daniel;
    • Kerr, Bronwyn;
    • Lin, Angela E.;
    • Schwartz, David D.;
    • Sibbles, Barbara J.;
    • Siegel, Dawn;
    • Shankar, Suma P.;
    • Stevenson, David A.;
    • Thacker, Mihir M.;
    • Weaver, K. Nicole;
    • White, Sue M.;
    • Rauen, Katherine A.
    Publication type:
    Article
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    Hearing impairment as an early sign of alpha‐mannosidosis in children with a mild phenotype: Report of seven new cases.

    Published in:
    American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1756, doi. 10.1002/ajmg.a.61273
    By:
    • Lehalle, Daphné;
    • Colombo, Roberto;
    • O'Grady, Michael;
    • Héron, Bénédicte;
    • Houcinat, Nada;
    • Kuentz, Paul;
    • Moutton, Sebastien;
    • Sorlin, Arthur;
    • Thevenon, Julien;
    • Delanne, Julian;
    • Gay, Sebastien;
    • Racine, Caroline;
    • Garde, Aurore;
    • Tran Mau‐Them, Frédéric;
    • Philippe, Christophe;
    • Vitobello, Antonio;
    • Nambot, Sophie;
    • Huet, Frédéric;
    • Duffourd, Yannis;
    • Feillet, François
    Publication type:
    Article
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    Publication schedule for 2019.

    Published in:
    American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1683, doi. 10.1002/ajmg.a.40458
    Publication type:
    Article
    31