Williams Syndrome and 15q Duplication: Coincidence versus Association.
- Published in:
- Molecular Syndromology, 2017, v. 8, n. 1, p. 50, doi. 10.1159/000452360
- By:
- Publication type:
- Article
Works matching IS 16618769 AND DT 2017 AND VI 8 AND IP 1
Results: 8
1
2
Complex Mosaic Ring Chromosome 11 Associated with Hemizygous Loss of 8.6 Mb of 11q24.2qter in Atypical Jacobsen Syndrome.
- Published in:
- Molecular Syndromology, 2017, v. 8, n. 1, p. 45, doi. 10.1159/000452681
- By:
- Publication type:
- Article
3
An 11.4-Mb Interstitial Deletion in a Fetus with No Apparent Phenotypic Alterations.
- Published in:
- Molecular Syndromology, 2017, v. 8, n. 1, p. 42, doi. 10.1159/000452967
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- Publication type:
- Article
4
17p13.3 Microdeletion: Insights on Genotype-Phenotype Correlation.
- Published in:
- Molecular Syndromology, 2017, v. 8, n. 1, p. 36, doi. 10.1159/000452753
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- Publication type:
- Article
5
Chromosome 1p31.1p31.3 Deletion in a Patient with Craniosynostosis, Central Nervous System and Renal Malformation: Case Report and Review of the Literature.
- Published in:
- Molecular Syndromology, 2017, v. 8, n. 1, p. 30, doi. 10.1159/000452609
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- Publication type:
- Article
6
De novo KAT6B Mutation Identified with Whole-Exome Sequencing in a Girl with Say-Barber/Biesecker/Young-Simpson Syndrome.
- Published in:
- Molecular Syndromology, 2017, v. 8, n. 1, p. 24, doi. 10.1159/000452258
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- Publication type:
- Article
7
Bloom’s Syndrome: Clinical Spectrum, Molecular Pathogenesis, and Cancer Predisposition.
- Published in:
- Molecular Syndromology, 2017, v. 8, n. 1, p. 4, doi. 10.1159/000452082
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- Publication type:
- Article
8
Recombine and Associate to Prevent Genomic Instability and Premature Aging.
- Published in:
- Molecular Syndromology, 2017, v. 8, n. 1, p. 1, doi. 10.1159/000452784
- By:
- Publication type:
- Article