Works matching IS 15524825 AND DT 2018 AND VI 176 AND IP 1

Results: 46
    1

    Cover Image, Volume 176A, Number 1, January 2018.

    Published in:
    2018
    By:
    • Ikenoue, Satoru;
    • Miyakoshi, Kei;
    • Ishii, Tomohiro;
    • Sato, Yu;
    • Otani, Toshimitsu;
    • Akiba, Yohei;
    • Kasuga, Yoshifumi;
    • Ochiai, Daigo;
    • Matsumoto, Tadashi;
    • Ichihashi, Yosuke;
    • Matsuzaki, Yohei;
    • Tachikawa, Kanako;
    • Michigami, Toshimi;
    • Nishimura, Gen;
    • Ikeda, Kazushige;
    • Hasegawa, Tomonobu;
    • Tanaka, Mamoru
    Publication type:
    Other
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    Discordant fetal phenotype of hypophosphatasia in two siblings.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 171, doi. 10.1002/ajmg.a.38531
    By:
    • Ikenoue, Satoru;
    • Miyakoshi, Kei;
    • Ishii, Tomohiro;
    • Sato, Yu;
    • Otani, Toshimitsu;
    • Akiba, Yohei;
    • Kasuga, Yoshifumi;
    • Ochiai, Daigo;
    • Matsumoto, Tadashi;
    • Ichihashi, Yosuke;
    • Matsuzaki, Yohei;
    • Tachikawa, Kanako;
    • Michigami, Toshimi;
    • Nishimura, Gen;
    • Ikeda, Kazushige;
    • Hasegawa, Tomonobu;
    • Tanaka, Mamoru
    Publication type:
    Article
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    Summary of the first inaugural joint meeting of the International Consortium for scoliosis genetics and the International Consortium for vertebral anomalies and scoliosis, March 16-18, 2017, Dallas, Texas.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 253, doi. 10.1002/ajmg.a.38550
    By:
    • Giampietro, Philip F.;
    • Pourquie, Olivier;
    • Raggio, Cathy;
    • Ikegawa, Shiro;
    • Turnpenny, Peter D.;
    • Gray, Ryan;
    • Dunwoodie, Sally L.;
    • Gurnett, Christina A.;
    • Alman, Benjamin;
    • Cheung, Kenneth;
    • Kusumi, Kenro;
    • Hadley‐Miller, Nancy;
    • Wise, Carol A.
    Publication type:
    Article
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    Novel pregnancy-triggered episodes of CAPOS syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 235, doi. 10.1002/ajmg.a.38502
    By:
    • Chang, Irene J.;
    • Adam, Margaret P.;
    • Jayadev, Suman;
    • Bird, Thomas D.;
    • Natarajan, Niranjana;
    • Glass, Ian A.
    Publication type:
    Article
    14

    Further delineation of the GDF6 related multiple synostoses syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 225, doi. 10.1002/ajmg.a.38503
    By:
    • Terhal, Paulien A.;
    • Verbeek, Nienke E.;
    • Knoers, Nine;
    • Nievelstein, Rutger J. A. J.;
    • van den Ouweland, Ans;
    • Sakkers, Ralph J.;
    • Speleman, Lucienne;
    • van Haaften, Gijs
    Publication type:
    Article
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    Expanding the neurodevelopmental phenotype of PURA syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 56, doi. 10.1002/ajmg.a.38521
    By:
    • Lee, Bo Hoon;
    • Reijnders, Margot R. F.;
    • Abubakare, Oluwatobi;
    • Tuttle, Emily;
    • Lape, Brynn;
    • Minks, Kelly Q.;
    • Stodgell, Christopher;
    • Bennetto, Loisa;
    • Kwon, Jennifer;
    • Fong, Chin‐To;
    • Gripp, Karen W.;
    • Marsh, Eric D.;
    • Smith, Wendy E.;
    • Huq, Ahm M.;
    • Coury, Stephanie A.;
    • Tan, Wen‐Hann;
    • Solis, Orestes;
    • Mehta, Rupal I.;
    • Leventer, Richard J.;
    • Baralle, Diana
    Publication type:
    Article
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    Co-occurring medical conditions in adults with Down syndrome: A systematic review toward the development of health care guidelines.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 116, doi. 10.1002/ajmg.a.38512
    By:
    • Capone, George T.;
    • Chicoine, Brian;
    • Bulova, Peter;
    • Stephens, Mary;
    • Hart, Sarah;
    • Crissman, Blythe;
    • Videlefsky, Andrea;
    • Myers, Katherine;
    • Roizen, Nancy;
    • Esbensen, Anna;
    • Peterson, Moya;
    • Santoro, Stephanie;
    • Woodward, Jason;
    • Martin, Barry;
    • Smith, David;
    • for the Down Syndrome Medical Interest Group DSMIG‐USA Adult Health Care Workgroup
    Publication type:
    Article
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    How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 151, doi. 10.1002/ajmg.a.38515
    By:
    • Schwartz, Mathias;
    • Sternberg, Damien;
    • Whalen, Sandra;
    • Afenjar, Alexandra;
    • Isapof, Arnaud;
    • Chabrol, Brigitte;
    • Portnoï, Marie‐France;
    • Heide, Solveig;
    • Keren, Boris;
    • Chantot‐Bastaraud, Sandra;
    • Siffroi, Jean‐Pierre
    Publication type:
    Article