RE(ACT) Congress Program 2018.
- Published in:
- Molecular Syndromology, 2018, v. 9, n. 2, p. 116, doi. 10.1159/000487206
- Publication type:
- Article
Works matching IS 16618769 AND DT 2018 AND VI 9 AND IP 2
Results: 10
1
2
#RAREvolution - Stand up for Scientific Research on Rare Diseases.
- Published in:
- Molecular Syndromology, 2018, v. 9, n. 2, p. 115, doi. 10.1159/000487207
- Publication type:
- Article
3
A Novel <bold><italic>GMPPA </italic></bold>Mutation in Two Adult Sisters with Achalasia, Alacrima, Short Stature, Dysmorphism, and Intellectual Disability.
- Published in:
- Molecular Syndromology, 2018, v. 9, n. 2, p. 110, doi. 10.1159/000485908
- By:
- Publication type:
- Article
4
Novel Nonsense Mutation in <bold><italic>SLC39A13</italic></bold> Initially Presenting as Myopathy: Case Report and Review of the Literature.
- Published in:
- Molecular Syndromology, 2018, v. 9, n. 2, p. 100, doi. 10.1159/000485881
- By:
- Publication type:
- Article
5
Novel and Recurrent Mutations in the <bold><italic>FGFR3 </italic></bold> Gene and Double Heterozygosity Cases in a Cohort of Brazilian Patients with Skeletal Dysplasia.
- Published in:
- Molecular Syndromology, 2018, v. 9, n. 2, p. 92, doi. 10.1159/000486697
- By:
- Publication type:
- Article
6
Language and Cognitive Impairment Associated with a Novel p.Cys63Arg Change in the MED13L Transcriptional Regulator.
- Published in:
- Molecular Syndromology, 2018, v. 9, n. 2, p. 83, doi. 10.1159/000485638
- By:
- Publication type:
- Article
7
A Clinical Review of Generalized Overgrowth Syndromes in the Era of Massively Parallel Sequencing.
- Published in:
- Molecular Syndromology, 2018, v. 9, n. 2, p. 70, doi. 10.1159/000484532
- By:
- Publication type:
- Article
8
Cerebral Cavernous Malformations: An Update on Prevalence, Molecular Genetic Analyses, and Genetic Counselling.
- Published in:
- Molecular Syndromology, 2018, v. 9, n. 2, p. 60, doi. 10.1159/000486292
- By:
- Publication type:
- Article
9
Call for Nomination of Members of the International Standing Committee of Human Cytogenomic Nomenclature.
- Published in:
- Molecular Syndromology, 2018, v. 9, n. 2, p. 59, doi. 10.1159/000487208
- Publication type:
- Article
10
Front & Back Matter.
- Published in:
- Molecular Syndromology, 2018, v. 9, n. 2, p. 1, doi. 10.1159/000487676
- Publication type:
- Article