Found: 10
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Genome-wide paternal uniparental disomy mosaicism in a woman with Beckwith-Wiedemann syndrome and ovarian steroid cell tumour.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 7, p. 788, doi. 10.1038/ejhg.2012.259
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- Publication type:
- Article
LOT1 (ZAC1/PLAGL1) as Member of an Imprinted Gene Network Does Not Harbor Silver-Russell Specific Variants.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2009, v. 22, n. 6, p. 555
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- Publication type:
- Article
Multi-exon deletion in the XDH gene as a cause of classical xanthinuria.
- Published in:
- Clinical Nephrology, 2013, v. 79, n. 1, p. 78, doi. 10.5414/CN106994
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- Publication type:
- Article
Silver-Russell syndrome: genetic basis and molecular genetic testing.
- Published in:
- 2010
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- Publication type:
- journal article
Silver-Russell syndrome: genetic basis and molecular genetic testing.
- Published in:
- Orphanet Journal of Rare Diseases, 2010, v. 5, p. 19, doi. 10.1186/1750-1172-5-19
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- Publication type:
- Article
Segmental maternal uniparental disomy 7q associated with DLK1/GTL2 (14q32) hypomethylation.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 2, p. 423, doi. 10.1002/ajmg.a.34412
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- Publication type:
- Article
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.
- Published in:
- 2013
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- Publication type:
- Journal Article
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjögren syndrome.
- Published in:
- Brain: A Journal of Neurology, 2013, v. 136, n. 12, p. 3634, doi. 10.1093/brain/awt283
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- Publication type:
- Article
Patient with three euchromatic supernumerary marker chromosomes derived from chromosomes 1, 12, and 18: Characterization and evaluation of the aberrations.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 736, doi. 10.1002/ajmg.a.36319
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- Publication type:
- Article
Heterogeneous growth patterns in carriers of chromosome 7p12.2 imbalances affecting GRB10.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2815, doi. 10.1002/ajmg.a.35612
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- Publication type:
- Article