Front & Back Matter.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 2, p. 1, doi. 10.1159/000523832
- Publication type:
- Article
Works matching IS 16618769 AND DT 2022 AND VI 13 AND IP 2
Results: 14
1
2
Erratum.
- Published in:
- 2022
- Publication type:
- Correction Notice
3
Deep White Matter Cysts in a Patient with Aicardi-Goutières Syndrome and SAMHD1 Variants.
- Published in:
- 2022
- By:
- Publication type:
- Editorial
4
Comprehensive Genetic Analysis of RASopathy in the Era of Next-Generation Sequencing and Definition of a Novel Likely Pathogenic KRAS Variation.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 2, p. 88, doi. 10.1159/000520722
- By:
- Publication type:
- Article
5
Association SOD2 and PON1 Gene Polymorphisms with Polycystic Ovary Syndrome in Saudi Women.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 2, p. 117, doi. 10.1159/000519527
- By:
- Publication type:
- Article
6
Bi-Allelic c.1746G>T; p.Leu582= Variants in TUBGCP4 in a Boy with Autism: Clinical Data and Literature Review.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 2, p. 165, doi. 10.1159/000519365
- By:
- Publication type:
- Article
7
KMT2B-Related Dystonia: Challenges in Diagnosis and Treatment.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 2, p. 159, doi. 10.1159/000518974
- By:
- Publication type:
- Article
8
Xq21.1q21.31 Duplication in Two Male Siblings.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 2, p. 152, doi. 10.1159/000518933
- By:
- Publication type:
- Article
9
Genetic Characterization of Hereditary Cancer Syndromes Based on Targeted Next-Generation Sequencing.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 2, p. 123, doi. 10.1159/000518927
- By:
- Publication type:
- Article
10
An Atypical Presentation of Mevalonate Kinase Deficiency in Response to Colchicine Treatment.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 2, p. 146, doi. 10.1159/000518825
- By:
- Publication type:
- Article
11
Aicardi-Goutières Syndrome due to a SAMHD1 Mutation Presenting with Deep White Matter Cysts.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 2, p. 132, doi. 10.1159/000518941
- By:
- Publication type:
- Article
12
Evaluation of the Effect of FOXO3 rs13217795 Genotype and Minor Allele (C) on Clinical Chemistry and Genetic Risk of Diabetes Among the Elderly Individuals from Northern India.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 2, p. 99, doi. 10.1159/000518636
- By:
- Publication type:
- Article
13
A Case of Combined Oxidative Phosphorylation Deficiency 35 Associated with a Novel Missense Variant of the TRIT1 Gene.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 2, p. 139, doi. 10.1159/000518373
- By:
- Publication type:
- Article
14
The Methylation Status in the Chromosome 11p15.5 Region and Metabolic Disorders in Children with Syndromic and Nonsyndromic Intrauterine Growth Restriction.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 2, p. 108, doi. 10.1159/000518630
- By:
- Publication type:
- Article