Works matching DE "SHORT stature"


Results: 2150
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    Loss-of-Function GHSR Variants Are Associated With Short Stature and Low IGF-I Open Access.

    Published in:
    Journal of Clinical Endocrinology & Metabolism, 2025, v. 110, n. 5, p. e1303, doi. 10.1210/clinem/dgaf010
    By:
    • Punt, Lauren D;
    • Kooijman, Sander;
    • Mutsters, Noa J M;
    • Yue, Kaiming;
    • Kaay, Daniëlle C M van der;
    • Tellingen, Vera van;
    • Waarde, Willie M Bakker-van;
    • Boot, Annemiek M;
    • Akker, Erica L T van den;
    • Boekholt, Anneke A van;
    • Groote, Kirsten de;
    • Kruijsen, Anne R;
    • Maren, Nancy H G van Nieuwaal-van;
    • Woltering, M Claire;
    • Heijligers, Malou;
    • Heyden, Josine C van der;
    • Bannink, Ellen M N;
    • Rinne, Tuula;
    • Hannema, Sabine E;
    • Waal, Wouter J de
    Publication type:
    Article
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    Novel mutations of the growth hormone 1 (GH1) gene disclosed by modulation of the clinical selection criteria for individuals with short stature (Communicated by Mark H. Paalman).

    Published in:
    Human Mutation, 2003, v. 21, n. 4, p. 424, doi. 10.1002/humu.10168
    By:
    • David S. Millar;
    • Mark D. Lewis;
    • Martin Horan;
    • Vicky Newsway;
    • Tammy E. Easter;
    • John W. Gregory;
    • Linda Fryklund;
    • Martin Norin;
    • Elizabeth C. Crowne;
    • Sally J. Davies;
    • Phillip Edwards;
    • Jeremy Kirk;
    • Kim Waldron;
    • Patricia J. Smith;
    • John A. Phillips;
    • Maurice F. Scanlon;
    • Michael Krawczak;
    • David N. Cooper;
    • Annie M. Procter
    Publication type:
    Article
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    Cleidocranial Dysplasia: A New Mutation.

    Published in:
    European Archives of Medical Research, 2019, v. 35, n. 4, p. 253, doi. 10.4274/eamr.galenos.2018.23600
    By:
    • Yılmazbaş, Nimet Pınar;
    • Bezen, Diğdem;
    • Ertürk, Biray
    Publication type:
    Article
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    Cathepsin K Mutation—A Subtle Clinical Presentation.

    Published in:
    Journal of the Endocrine Society, 2022, v. 6, n. 8, p. 1, doi. 10.1210/jendso/bvac102
    By:
    • Nandipati, Venkata Sandeep;
    • Chapla, Aaron;
    • Jebasingh, Felix K;
    • Charlu, Arun Paul;
    • Jepegnanam, Thilak Samuel;
    • Cherian, Kripa Elizabeth;
    • Paul, Thomas V;
    • Thomas, Nihal
    Publication type:
    Article
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    A Case with Laron Syndrome.

    Published in:
    Bezmialem Science, 2019, v. 7, n. 3, p. 251, doi. 10.14235/bas.galenos.2018.2385
    By:
    • ÖZGEN, İlker Tolga;
    • KUTLU, Esra;
    • CESUR, Yaşar;
    • YEŞİL, Gözde
    Publication type:
    Article
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    Concepts in Alpine Plant Ecology.

    Published in:
    Plants (2223-7747), 2023, v. 12, n. 14, p. 2666, doi. 10.3390/plants12142666
    By:
    • Körner, Christian
    Publication type:
    Article
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