Front & Back Matter.
- Published in:
- Molecular Syndromology, 2019, v. 10, n. 5, p. 1, doi. 10.1159/000499061
- Publication type:
- Article
Works matching IS 16618769 AND DT 2019 AND VI 10 AND IP 5
Results: 9
1
2
Multiple Congenital Anomalies in a Patient with Interstitial 6q26 Deletion.
- Published in:
- Molecular Syndromology, 2019, v. 10, n. 5, p. 276, doi. 10.1159/000503698
- By:
- Publication type:
- Article
3
Nonsyndromic Split-Hand/Foot Malformation: Recent Classification.
- Published in:
- Molecular Syndromology, 2019, v. 10, n. 5, p. 243, doi. 10.1159/000502784
- By:
- Publication type:
- Article
4
A Novel DLG3 Mutation Expanding the Phenotype of X-Linked Intellectual Disability Caused by DLG3 Nonsense Variants.
- Published in:
- Molecular Syndromology, 2019, v. 10, n. 5, p. 281, doi. 10.1159/000502601
- By:
- Publication type:
- Article
5
A Novel Pathological ARSB Mutation (c.870G>A; p.Trp290stop) in Mucopolysaccharidosis Type VI Patients.
- Published in:
- Molecular Syndromology, 2019, v. 10, n. 5, p. 272, doi. 10.1159/000502597
- By:
- Publication type:
- Article
6
Mutations in Mediator Complex Genes CDK8, MED12, MED13, and MEDL13 Mediate Overlapping Developmental Syndromes.
- Published in:
- Molecular Syndromology, 2019, v. 10, n. 5, p. 239, doi. 10.1159/000502346
- By:
- Publication type:
- Article
7
Partial Monosomy 4p and Trisomy 12q due to a t(4;12)(p16.3;q24.31) Familial Translocation in Two Cousins.
- Published in:
- Molecular Syndromology, 2019, v. 10, n. 5, p. 264, doi. 10.1159/000501923
- By:
- Publication type:
- Article
8
Identification of Novel and Recurrent RMRP Variants in a Series of Brazilian Patients with Cartilage-Hair Hypoplasia: McKusick Syndrome.
- Published in:
- Molecular Syndromology, 2019, v. 10, n. 5, p. 255, doi. 10.1159/000501892
- By:
- Publication type:
- Article
9
A Recurrent Variant in MAGEL2 in Five Siblings with Severe Respiratory Disturbance after Birth.
- Published in:
- Molecular Syndromology, 2019, v. 10, n. 5, p. 286, doi. 10.1159/000501376
- By:
- Publication type:
- Article