Works matching DE "VATER syndrome"


Results: 81
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    Tracheal bronchus associated with VACTERL.

    Published in:
    European Journal of Pediatrics, 2003, v. 162, n. 3, p. 165, doi. 10.1007/s00431-002-1109-3
    By:
    • Kairamkonda, Venkatesh;
    • Thorburn, Kentigern;
    • Sarginson, Richard
    Publication type:
    Article
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    Anesthetic management in VACTERL syndrome.

    Published in:
    Journal of Clinical & Experimental Investigations, 2014, v. 5, n. 1, p. 103, doi. 10.5799/ahinjs.01.2014.01.0369
    By:
    • İlker Öngüç Aycan;
    • Turgut, Hüseyin;
    • Yıldırım, Zeynep Baysal;
    • Ölmez Kavak, Gönül
    Publication type:
    Article
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    CAST SYNDROME OF THE SMALL INTESTINE.

    Published in:
    American Journal of Gastroenterology (Springer Nature), 1994, v. 89, n. 10, p. 1903
    By:
    • Curtiss, Steven I.;
    • Weiner, Lon;
    • Dolgin, Stephen E.
    Publication type:
    Article
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    Genetic and physical mapping of the McKusick-Kaufman syndrome.

    Published in:
    Human Molecular Genetics, 1998, v. 7, n. 3, p. 475, doi. 10.1093/hmg/7.3.475
    By:
    • Stone, Deborah L.;
    • Agarwala, Richa;
    • Schäffer, Alejandro A.;
    • Weber, James L.;
    • Vaske, David;
    • Oda, Takaya;
    • Chandrasekharappa, Settara C.;
    • Francomano, Clair A.;
    • Biesecker, Leslie G.
    Publication type:
    Article
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    Somatic mosaicism of an intragenic <italic>FANCB</italic> duplication in both fibroblast and peripheral blood cells observed in a Fanconi anemia patient leads to milder phenotype.

    Published in:
    Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 1, p. 77, doi. 10.1002/mgg3.350
    By:
    • Asur, Rajalakshmi S.;
    • Kimble, Danielle C.;
    • Lach, Francis P.;
    • Jung, Moonjung;
    • Donovan, Frank X.;
    • Kamat, Aparna;
    • Noonan, Raymond J.;
    • Thomas, James W.;
    • Park, Morgan;
    • Chines, Peter;
    • Vlachos, Adrianna;
    • Auerbach, Arleen D.;
    • Smogorzewska, Agata;
    • Chandrasekharappa, Settara C.
    Publication type:
    Article
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    De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association.

    Published in:
    European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1377, doi. 10.1038/ejhg.2013.58
    By:
    • Hilger, Alina;
    • Schramm, Charlotte;
    • Pennimpede, Tracie;
    • Wittler, Lars;
    • Dworschak, Gabriel C;
    • Bartels, Enrika;
    • Engels, Hartmut;
    • Zink, Alexander M;
    • Degenhardt, Franziska;
    • Müller, Annette M;
    • Schmiedeke, Eberhard;
    • Grasshoff-Derr, Sabine;
    • Märzheuser, Stefanie;
    • Hosie, Stuart;
    • Holland-Cunz, Stefan;
    • Wijers, Charlotte HW;
    • Marcelis, Carlo LM;
    • van Rooij, Iris ALM;
    • Hildebrandt, Friedhelm;
    • Herrmann, Bernhard G
    Publication type:
    Article
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    PCSK5 mutation in a patient with the VACTERL association.

    Published in:
    BMC Research Notes, 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13104-015-1166-0
    By:
    • Yukio Nakamura;
    • Shingo Kikugawa;
    • Shoji Seki;
    • Masahiko Takahata;
    • Norimasa Iwasaki;
    • Hidetomi Terai;
    • Mitsuhiro Matsubara;
    • Fumio Fujioka;
    • Hidehito Inagaki;
    • Tatsuya Kobayashi;
    • Tomoatsu Kimura;
    • Hiroki Kurahashi;
    • Hiroyuki Kato
    Publication type:
    Article
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    Asociación VACTER: reporte de un caso.

    Published in:
    Revista Mexicana de Pediatria, 2013, v. 80, n. 3, p. 109
    By:
    • Rodríguez Z., Eréndira;
    • Firó R., Verónica;
    • Peláez, Aarón;
    • Pedroza M., J. Manuel
    Publication type:
    Article
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