Found: 6
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A Subtle Familial Translocation t(3;21)(p26.3;q22.3): An Apparently Healthy Boy with a 3p Deletion and 21q Duplication.
- Published in:
- Cytogenetic & Genome Research, 2010, v. 128, n. 4, p. 245, doi. 10.1159/000302497
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- Publication type:
- Article
Rothmund-Thomson syndrome and osteoma cutis in a patient previously diagnosed as COPS syndrome.
- Published in:
- 2017
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- Publication type:
- journal article
X-chromosome duplications in males with mental retardation: pathogenic or benign variants?
- Published in:
- Clinical Genetics, 2011, v. 79, n. 1, p. 71, doi. 10.1111/j.1399-0004.2010.01438.x
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- Publication type:
- Article
Short Stature Associated with a Novel Heterozygous Mutation in the Insulin-Like Growth Factor 1 Gene.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2010, v. 95, n. 11, p. E363, doi. 10.1210/jc.2010-0511
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- Publication type:
- Article
A mosaic de novo duplication of 17q21-25 is associated with GH insensitivity, disturbed in vitro CD28-mediated signaling, and decreased STAT5B, PI3K, and NF-&kgr;B activation.
- Published in:
- European Journal of Endocrinology, 2012, v. 166, n. 4, p. 743, doi. 10.1530/EJE-11-0774
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- Publication type:
- Article
Risk of erroneous results in carrier testing for haemophilia A without prior DNA analysis in male index patients.
- Published in:
- Haemophilia, 2015, v. 21, n. 3, p. e237, doi. 10.1111/hae.12648
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- Publication type:
- Article