Neocentromeres to the Rescue of Acentric Chromosome Fragments.
- Published in:
- Molecular Syndromology, 2017, v. 8, n. 6, p. 279, doi. 10.1159/000481332
- By:
- Publication type:
- Article
Works matching IS 16618769 AND DT 2017 AND VI 8 AND IP 6
Results: 8
1
2
Genetic Counselling Pitfall: Co-Occurrence of an 11.8-Mb Xp22 Duplication and an Xp21.2 Duplication Disrupting IL1RAPL1.
- Published in:
- Molecular Syndromology, 2017, v. 8, n. 6, p. 325, doi. 10.1159/000479455
- By:
- Publication type:
- Article
3
A Novel de novo FZD2 Mutation in a Patient with Autosomal Dominant Omodysplasia.
- Published in:
- Molecular Syndromology, 2017, v. 8, n. 6, p. 318, doi. 10.1159/000479721
- By:
- Publication type:
- Article
4
A Homozygous Missense Variant in INPP5E Associated with Joubert Syndrome and Related Disorders.
- Published in:
- Molecular Syndromology, 2017, v. 8, n. 6, p. 313, doi. 10.1159/000479673
- By:
- Publication type:
- Article
5
Whole-Exome Sequencing Identifies a de novo AHDC1 Mutation in a Colombian Patient with Xia-Gibbs Syndrome.
- Published in:
- Molecular Syndromology, 2017, v. 8, n. 6, p. 308, doi. 10.1159/000479357
- By:
- Publication type:
- Article
6
Spondyloepimetaphysial Dysplasia with Joint Laxity in Three Siblings with B3GALT6 Mutations.
- Published in:
- Molecular Syndromology, 2017, v. 8, n. 6, p. 303, doi. 10.1159/000479672
- By:
- Publication type:
- Article
7
Significant Improvement of Clinical Symptoms, Bone Lesions, and Bone Turnover after Long-Term Zoledronic Acid Treatment in Patients with a Severe Form of Camurati-Engelmann Disease.
- Published in:
- Molecular Syndromology, 2017, v. 8, n. 6, p. 294, doi. 10.1159/000479859
- By:
- Publication type:
- Article
8
Novel STIL Compound Heterozygous Mutations Cause Severe Fetal Microcephaly and Centriolar Lengthening.
- Published in:
- Molecular Syndromology, 2017, v. 8, n. 6, p. 282, doi. 10.1159/000479666
- By:
- Publication type:
- Article