Front & Back Matter.
- Published in:
- Molecular Syndromology, 2025, v. 16, n. 3, p. 1, doi. 10.1159/000546806
- Publication type:
- Article
Works matching IS 16618769 AND DT 2025 AND VI 16 AND IP 3
Results: 13
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Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome Caused by Truncating Mutations in the Prg4 Gene: Case Series and Literature Review.
- Published in:
- Molecular Syndromology, 2025, v. 16, n. 3, p. 223, doi. 10.1159/000542596
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- Publication type:
- Article
3
Evaluation of Cardiomyopathy-Related Target Genes by Next-Generation Sequencing Method and Investigation of the Phenotype-Genotype Relationship.
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- Molecular Syndromology, 2025, v. 16, n. 3, p. 235, doi. 10.1159/000542097
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- Publication type:
- Article
4
Association of MicroRNA-146a-5p Polymorphism with Cognitive Impairment in Adolescents with Depressive Disorder.
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- Molecular Syndromology, 2025, v. 16, n. 3, p. 216, doi. 10.1159/000542064
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- Publication type:
- Article
5
Enhancing Genetic Insight: Chromosomal Microarray Enhances Understanding of Genetics in Rubinstein-Taybi Syndrome.
- Published in:
- Molecular Syndromology, 2025, v. 16, n. 3, p. 283, doi. 10.1159/000541941
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- Publication type:
- Article
6
Blended Phenotypes of Sexual Development Disorder and Coenzyme Q10 Deficiency, Together with a Sibling with Homozygous Variants in the AHI1 Gene.
- Published in:
- Molecular Syndromology, 2025, v. 16, n. 3, p. 271, doi. 10.1159/000541717
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- Publication type:
- Article
7
Ellis-Van Creveld Syndrome with Severe Mitral Valve Insufficiency Caused by a Homozygous Intragenic Deletion of the EVC Gene.
- Published in:
- Molecular Syndromology, 2025, v. 16, n. 3, p. 264, doi. 10.1159/000541665
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- Publication type:
- Article
8
A Colombian Boy with a Novel de novo PURA Variant: A Case Report.
- Published in:
- Molecular Syndromology, 2025, v. 16, n. 3, p. 278, doi. 10.1159/000541654
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- Publication type:
- Article
9
Presentation of Pallister-Hall-Like Syndrome in a Girl with a Homozygous Rare Variant in the SMO Gene.
- Published in:
- Molecular Syndromology, 2025, v. 16, n. 3, p. 259, doi. 10.1159/000541401
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- Publication type:
- Article
10
Distribution of Variants and Identification of Novel Variants in Patients with Obesity Using Next-Generation Sequencing in Genes Associated with Obesity: A Single-Center Experience in Turkey.
- Published in:
- Molecular Syndromology, 2025, v. 16, n. 3, p. 208, doi. 10.1159/000541313
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- Publication type:
- Article
11
The Opportunities and Challenges in the Molecular Mechanism Research of Congenital Heart Disease: A Review.
- Published in:
- Molecular Syndromology, 2025, v. 16, n. 3, p. 201, doi. 10.1159/000541266
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- Publication type:
- Article
12
Kniest Dysplasia without Ocular and Auditory Abnormalities in a Boy of 12 Months.
- Published in:
- Molecular Syndromology, 2025, v. 16, n. 3, p. 247, doi. 10.1159/000541135
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- Publication type:
- Article
13
Clinical Variability of Shashi-Pena Syndrome: A Novel ASXL2 Variant Associated with Overgrowth and Minor Neurodevelopmental Features.
- Published in:
- Molecular Syndromology, 2025, v. 16, n. 3, p. 252, doi. 10.1159/000541070
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- Publication type:
- Article