How Many Genes Does It Take?
- Published in:
- 2020
- By:
- Publication type:
- Abstract
Works matching IS 16618769 AND DT 2020 AND VI 11 AND IP 2
Results: 8
1
2
Whole-Exome Sequencing Identifies Three Candidate Homozygous Variants in a Consanguineous Iranian Family with Autism Spectrum Disorder and Skeletal Problems.
- Published in:
- Molecular Syndromology, 2020, v. 11, n. 2, p. 62, doi. 10.1159/000506530
- By:
- Publication type:
- Article
3
Novel Clinical and Radiological Findings in a Family with Autosomal Recessive Omodysplasia.
- Published in:
- Molecular Syndromology, 2020, v. 11, n. 2, p. 83, doi. 10.1159/000506384
- By:
- Publication type:
- Article
4
Diagnosis of Bloom Syndrome in a Patient with Short Stature, Recurrence of Malignant Lymphoma, and Consanguineous Origin.
- Published in:
- Molecular Syndromology, 2020, v. 11, n. 2, p. 73, doi. 10.1159/000507006
- By:
- Publication type:
- Article
5
Two Novel Variants and One Previously Reported Variant in the Insulin Receptor Gene in Two Cases with Severe Insulin Resistance Syndrome.
- Published in:
- Molecular Syndromology, 2020, v. 11, n. 2, p. 90, doi. 10.1159/000506722
- By:
- Publication type:
- Article
6
A Novel COL3A1 c.2644G>T; p.(Gly882Cys) Variant in a Turkish Family with Vascular Ehlers-Danlos Syndrome.
- Published in:
- Molecular Syndromology, 2020, v. 11, n. 2, p. 110, doi. 10.1159/000506585
- By:
- Publication type:
- Article
7
New Compound Heterozygous Splice Site Mutations of the Skeletal Muscle Ryanodine Receptor (RYR1) Gene Manifest Fetal Akinesia: A Linkage with Congenital Myopathies.
- Published in:
- Molecular Syndromology, 2020, v. 11, n. 2, p. 104, doi. 10.1159/000507034
- By:
- Publication type:
- Article
8
Three Offspring with Cri-du-Chat Syndrome from Phenotypically Normal Parents.
- Published in:
- Molecular Syndromology, 2020, v. 11, n. 2, p. 97, doi. 10.1159/000506892
- By:
- Publication type:
- Article