Works matching IS 00099163 AND DT 2023 AND VI 103 AND IP 1

Results: 17
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    Biallelic variants in the SLC13A1 sulfate transporter gene cause hyposulfatemia with a mild spondylo‐epi‐metaphyseal dysplasia.

    Published in:
    Clinical Genetics, 2023, v. 103, n. 1, p. 45, doi. 10.1111/cge.14239
    By:
    • van de Kamp, Jiddeke M.;
    • Bökenkamp, Arend;
    • Smith, Desiree E. C.;
    • Wamelink, Mirjam M. C.;
    • Jansen, Erwin E. W.;
    • Struys, Eduard A.;
    • Waisfisz, Quinten;
    • Verkleij, Marieke;
    • Hartmann, Michaela F.;
    • Wang, Rong;
    • Wudy, Stefan A.;
    • Paganini, Chiara;
    • Rossi, Antonio;
    • Finken, Martijn J. J.
    Publication type:
    Article
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    Platelet findings in 22q11.2 deletion syndrome correlate with disease manifestations but do not correlate with GPIb surface expression.

    Published in:
    Clinical Genetics, 2023, v. 103, n. 1, p. 109, doi. 10.1111/cge.14227
    By:
    • Campbell, Ian M.;
    • Crowley, T. Blaine;
    • Jobaliya, Chintan;
    • Bailey, Alice;
    • McGinn, Daniel E.;
    • Gaiser, Kimberly;
    • Bassett, Anne;
    • Gur, Raquel E.;
    • Morrow, Bernice;
    • Emanuel, Beverly S.;
    • Franco, Aime T.;
    • French, Deborah;
    • Zackai, Elaine H.;
    • McDonald‐McGinn, Donna M.;
    • Lambert, Michele P.
    Publication type:
    Article
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    Issue Information.

    Published in:
    Clinical Genetics, 2023, v. 103, n. 1, p. 1, doi. 10.1111/cge.14151
    Publication type:
    Article