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