Identification of a New Candidate Locus for Ebstein Anomaly in 1p36.2.
- Published in:
- Molecular Syndromology, 2018, v. 9, n. 3, p. 164, doi. 10.1159/000488820
- By:
- Publication type:
- Article
Works matching IS 16618769 AND DT 2018 AND VI 9 AND IP 3
Results: 8
1
2
A Novel MGP Gene Mutation Causing Keutel Syndrome in a Brazilian Patient.
- Published in:
- Molecular Syndromology, 2018, v. 9, n. 3, p. 159, doi. 10.1159/000488573
- By:
- Publication type:
- Article
3
DeSanto-Shinawi Syndrome: First Case in South America.
- Published in:
- Molecular Syndromology, 2018, v. 9, n. 3, p. 154, doi. 10.1159/000488815
- By:
- Publication type:
- Article
4
Atypical Skin Manifestations in FGFR2 - Related Craniosynostosis Syndromes Broaden the Phenotypic Spectrum.
- Published in:
- Molecular Syndromology, 2018, v. 9, n. 3, p. 149, doi. 10.1159/000488439
- By:
- Publication type:
- Article
5
Necrotizing Enterocolitis in Two Siblings and an Unrelated Infant with Overlapping Chromosome 6q25 Deletions.
- Published in:
- Molecular Syndromology, 2018, v. 9, n. 3, p. 141, doi. 10.1159/000488817
- By:
- Publication type:
- Article
6
Longitudinal Follow-Up of Two Patients with Dysspondyloenchondromatosis due to Novel Heterozygous Mutations in COL2A1.
- Published in:
- Molecular Syndromology, 2018, v. 9, n. 3, p. 134, doi. 10.1159/000488438
- By:
- Publication type:
- Article
7
Interstitial Chromosome 3p13p14 Deletions: An Update and Review.
- Published in:
- Molecular Syndromology, 2018, v. 9, n. 3, p. 122, doi. 10.1159/000488168
- By:
- Publication type:
- Article
8
Intragenic Deletions May Involve Enhancer Sequences and Alter CNTNAP2 Expression.
- Published in:
- Molecular Syndromology, 2018, v. 9, n. 3, p. 119, doi. 10.1159/000489004
- By:
- Publication type:
- Article