Works matching IS 15524825 AND DT 2020 AND VI 182 AND IP 3

Results: 38
    1

    In This Issue.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 424, doi. 10.1002/ajmg.a.61502
    Publication type:
    Article
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    Growth charts in Kabuki syndrome 1.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 446, doi. 10.1002/ajmg.a.61462
    By:
    • Ruault, Valentin;
    • Corsini, Carole;
    • Duflos, Claire;
    • Akouete, Sandrine;
    • Georgescu, Véra;
    • Abaji, Mario;
    • Alembick, Yves;
    • Alix, Eudeline;
    • Amiel, Jeanne;
    • Amouroux, Cyril;
    • Barat‐Houari, Mouna;
    • Baumann, Clarisse;
    • Bonnard, Adeline;
    • Boursier, Guilaine;
    • Boute, Odile;
    • Burglen, Lydie;
    • Busa, Tiffany;
    • Cordier, Marie‐Pierre;
    • Cormier‐Daire, Valérie;
    • Delrue, Marie‐Ange
    Publication type:
    Article
    8

    Utilization of the 2017 diagnostic criteria for hEDS by the Toronto GoodHope Ehlers–Danlos syndrome clinic: A retrospective review.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 484, doi. 10.1002/ajmg.a.61459
    By:
    • McGillis, Laura;
    • Mittal, Nimish;
    • Santa Mina, Daniel;
    • So, Joyce;
    • Soowamber, Medha;
    • Weinrib, Aliza;
    • Soever, Leslie;
    • Rozenberg, Dmitry;
    • Liu, Louis;
    • Tse, Yvonne;
    • Katz, Joel;
    • Charames, George S;
    • Murphy, Kieran;
    • Vadas, Peter;
    • Slepian, Maxwell P;
    • Walsh, Scott;
    • Wilson, Lindsay;
    • Adler, Arnon;
    • Franzese, Alyssa;
    • Hussey, Laura
    Publication type:
    Article
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    Renpenning syndrome in a female.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 498, doi. 10.1002/ajmg.a.61451
    By:
    • Cho, Raymond Y.;
    • Peñaherrera, Maria S.;
    • Du Souich, Christele;
    • Huang, Lijia;
    • Mwenifumbo, Jill;
    • Nelson, Tanya N.;
    • Elliott, Alison M.;
    • Adam, Shelin;
    • Eydoux, Patrice;
    • Yang, Gui X.;
    • Chijiwa, Chieko;
    • Van Allen, Margot I.;
    • Friedman, Jan M.;
    • Robinson, Wendy P.;
    • Lehman, Anna
    Publication type:
    Article
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    Holoprosencephaly in Kabuki syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 441, doi. 10.1002/ajmg.a.61454
    By:
    • Daly, Tara;
    • Roberts, Abra;
    • Yang, Edward;
    • Mochida, Ganeshwaran H.;
    • Bodamer, Olaf
    Publication type:
    Article
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    Estimated birth prevalence of mucopolysaccharidoses in Brazil.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 469, doi. 10.1002/ajmg.a.61456
    By:
    • Federhen, Andressa;
    • Pasqualim, Gabriela;
    • Freitas, Talita Freitas;
    • Gonzalez, Esteban Alberto;
    • Trapp, Franciele;
    • Matte, Ursula;
    • Giugliani, Roberto
    Publication type:
    Article
    16

    A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X‐linked trichothiodystrophy.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 513, doi. 10.1002/ajmg.a.61450
    By:
    • Mendelsohn, Bryce A.;
    • Beleford, Daniah T.;
    • Abu‐El‐Haija, Aya;
    • Alsaleh, Norah S.;
    • Rahbeeni, Zuhair;
    • Martin, Pierre‐Marie;
    • Rego, Shannon;
    • Huang, Alyssa;
    • Capodanno, Gina;
    • Shieh, Joseph T.;
    • Van Ziffle, Jessica;
    • Risch, Neil;
    • Alkuraya, Fowzan S.;
    • Slavotinek, Anne M.
    Publication type:
    Article
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    Catel–Manzke syndrome without Manzke dysostosis.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 437, doi. 10.1002/ajmg.a.61436
    By:
    • Miller, Danny E.;
    • Chow, Penny;
    • Gallagher, Emily R.;
    • Perkins, Jonathan A.;
    • Wenger, Tara L.
    Publication type:
    Article
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    The sixth international RASopathies symposium: Precision medicine—From promise to practice.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 597, doi. 10.1002/ajmg.a.61434
    By:
    • Gripp, Karen W.;
    • Schill, Lisa;
    • Schoyer, Lisa;
    • Stronach, Beth;
    • Bennett, Anton M.;
    • Blaser, Susan;
    • Brown, Amanda;
    • Burdine, Rebecca;
    • Burkitt‐Wright, Emma;
    • Castel, Pau;
    • Darilek, Sandra;
    • Dias, Alwyn;
    • Dyer, Tuesdi;
    • Ellis, Michelle;
    • Erickson, Gregg;
    • Gelb, Bruce D.;
    • Green, Tamar;
    • Gross, Andrea;
    • Ho, Alan;
    • Holder, James Lloyd
    Publication type:
    Article
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    Second report of RING finger protein 113A (RNF113A) involvement in a Mendelian disorder.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 565, doi. 10.1002/ajmg.a.61384
    By:
    • Tessarech, Marine;
    • Gorce, Magali;
    • Boussion, Françoise;
    • Bault, Jean‐Philippe;
    • Triau, Stéphane;
    • Charif, Majida;
    • Khiaty, Salim;
    • Delorme, Benoit;
    • Guichet, Agnès;
    • Ziegler, Alban;
    • Bris, Céline;
    • Laquerrière, Annie;
    • Fallet‐Bianco, Catherine;
    • Jacquette, Aurélia;
    • Salhi, Houria;
    • Héron, Delphine;
    • Reynier, Pascal;
    • Procaccio, Vincent;
    • Bonneau, Dominique;
    • Colin, Estelle
    Publication type:
    Article
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    Publication schedule for 2020.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 420, doi. 10.1002/ajmg.a.61225
    Publication type:
    Article
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