Works matching IS 15524825 AND DT 2021 AND VI 185 AND IP 5

Results: 46
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    Presacral neuroendocrine tumors associated with the Currarino syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1582, doi. 10.1002/ajmg.a.62145
    By:
    • Scott, Aaron T.;
    • Tessmann, Jonathon B.;
    • Braun, Terry;
    • Brown, Bartley;
    • Breheny, Patrick J.;
    • Darbro, Benjamin W.;
    • Bellizzi, Andrew M.;
    • Dillon, Joseph S.;
    • O'Dorisio, Thomas M.;
    • Alderson, Alice;
    • Bennett, Bonita;
    • Bernat, John A.;
    • Metz, David C.;
    • Howe, James R.
    Publication type:
    Article
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    Segmental overgrowth and aneurysms due to mosaic PDGFRB p.(Tyr562Cys).

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1430, doi. 10.1002/ajmg.a.62126
    By:
    • Chenbhanich, Jirat;
    • Hu, Yan;
    • Hetts, Steven;
    • Cooke, Daniel;
    • Dowd, Christopher;
    • Devine, Patrick;
    • Russell, Bianca;
    • Kang, Sung Hae L.;
    • Chang, Vivian Y.;
    • Abla, Adib A.;
    • Cornett, Patricia;
    • Yeh, Iwei;
    • Lee, Hane;
    • Martinez‐Agosto, Julian A.;
    • Frieden, Ilona J.;
    • Shieh, Joseph T.
    Publication type:
    Article
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    Whole genome sequencing of 45 Japanese patients with intellectual disability.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1468, doi. 10.1002/ajmg.a.62138
    By:
    • Abe‐Hatano, Chihiro;
    • Iida, Aritoshi;
    • Kosugi, Shunichi;
    • Momozawa, Yukihide;
    • Terao, Chikashi;
    • Ishikawa, Keiko;
    • Okubo, Mariko;
    • Hachiya, Yasuo;
    • Nishida, Hiroya;
    • Nakamura, Kazuyuki;
    • Miyata, Rie;
    • Murakami, Chie;
    • Takahashi, Kan;
    • Hoshino, Kyoko;
    • Sakamoto, Haruko;
    • Ohta, Sayaka;
    • Kubota, Masaya;
    • Takeshita, Eri;
    • Ishiyama, Akihiko;
    • Nakagawa, Eiji
    Publication type:
    Article
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    Phenotypic expansion of the BPTF‐related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1366, doi. 10.1002/ajmg.a.62102
    By:
    • Glinton, Kevin E.;
    • Hurst, Anna C. E.;
    • Bowling, Kevin M.;
    • Cristian, Ingrid;
    • Haynes, Devon;
    • Adstamongkonkul, Dusit;
    • Schnappauf, Oskar;
    • Beck, David B.;
    • Brewer, Carole;
    • Parikh, Aditi Shah;
    • Shinde, Deepali N.;
    • Donaldson, Alan;
    • Brautbar, Ariel;
    • Koene, Saskia;
    • Haeringen, Arie;
    • Piton, Amélie;
    • Capri, Yline;
    • Furlan, Margherita;
    • Gardella, Elena;
    • Møller, Rikke Steensbjerre
    Publication type:
    Article
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    In This Issue.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1354, doi. 10.1002/ajmg.a.61671
    Publication type:
    Article
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    Publication schedule for 2021.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1350, doi. 10.1002/ajmg.a.61668
    Publication type:
    Article
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