Prevalence and Phenotypic Impact of Robertsonian Translocations.
- Published in:
- Molecular Syndromology, 2021, v. 12, n. 1, p. 1, doi. 10.1159/000512676
- By:
- Publication type:
- Article
Works matching IS 16618769 AND DT 2021 AND VI 12 AND IP 1
Results: 10
1
2
Expanding the Phenotype of TUBB2A-Related Tubulinopathy: Three Cases of a Novel, Heterozygous TUBB2A Pathogenic Variant p.Gly98Arg.
- Published in:
- Molecular Syndromology, 2021, v. 12, n. 1, p. 33, doi. 10.1159/000512160
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- Publication type:
- Article
3
Front & Back Matter.
- Published in:
- Molecular Syndromology, 2021, v. 12, n. 1, p. 1, doi. 10.1159/000515582
- Publication type:
- Article
4
Noonan Syndrome with Multiple Lentigines and PTPN11 Mutation: A Case with Intracerebral Hemorrhage.
- Published in:
- Molecular Syndromology, 2021, v. 12, n. 1, p. 57, doi. 10.1159/000512374
- By:
- Publication type:
- Article
5
Prenatal Diagnosis of Acromelic Frontonasal Dysostosis.
- Published in:
- Molecular Syndromology, 2021, v. 12, n. 1, p. 41, doi. 10.1159/000512304
- By:
- Publication type:
- Article
6
The Role of Copy Number Variations and FHIT Gene on Phenotypic Characteristics of Cases Diagnosed with Autism Spectrum Disorder.
- Published in:
- Molecular Syndromology, 2021, v. 12, n. 1, p. 12, doi. 10.1159/000512171
- By:
- Publication type:
- Article
7
A Frameshift Variant in KIAA0825 Causes Postaxial Polydactyly.
- Published in:
- Molecular Syndromology, 2021, v. 12, n. 1, p. 20, doi. 10.1159/000512062
- By:
- Publication type:
- Article
8
Novel Findings in Floating-Harbor Syndrome and a Mini-Review of the Literature.
- Published in:
- Molecular Syndromology, 2021, v. 12, n. 1, p. 52, doi. 10.1159/000512050
- By:
- Publication type:
- Article
9
Wiedemann-Steiner Syndrome as a Differential Diagnosis of Cornelia de Lange Syndrome Using Targeted Next-Generation Sequencing: A Case Report.
- Published in:
- Molecular Syndromology, 2021, v. 12, n. 1, p. 46, doi. 10.1159/000511971
- By:
- Publication type:
- Article
10
Dystonia and Contractures are Potential Early Signs of CACNA1E-Related Epileptic Encephalopathy.
- Published in:
- Molecular Syndromology, 2021, v. 12, n. 1, p. 25, doi. 10.1159/000511926
- By:
- Publication type:
- Article