Found: 9
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Narrative Review: Update on the Molecular Diagnosis of Fragile X Syndrome.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 11, p. 9206, doi. 10.3390/ijms24119206
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- Publication type:
- Article
Current Data and New Insights into the Genetic Factors of Atherogenic Dyslipidemia Associated with Metabolic Syndrome.
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- Diagnostics (2075-4418), 2023, v. 13, n. 14, p. 2348, doi. 10.3390/diagnostics13142348
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- Publication type:
- Article
Epidermolysis Bullosa—A Different Genetic Approach in Correlation with Genetic Heterogeneity.
- Published in:
- Diagnostics (2075-4418), 2022, v. 12, n. 6, p. 1325, doi. 10.3390/diagnostics12061325
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- Publication type:
- Article
Novel Mutation in APC Gene Associated with Multiple Osteomas in a Family and Review of Genotype-Phenotype Correlations of Extracolonic Manifestations in Gardner Syndrome.
- Published in:
- 2021
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- Publication type:
- Case Study
Genetic heterogeneity in corpus callosum agenesis.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.958570
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- Publication type:
- Article
Genotype–Phenotype Correlations in 2q37-Deletion Syndrome: An Update of the Clinical Spectrum and Literature Review.
- Published in:
- Genes, 2023, v. 14, n. 2, p. 465, doi. 10.3390/genes14020465
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- Publication type:
- Article
Different Types of Deletions Created by Low-Copy Repeats Sequences Location in 22q11.2 Deletion Syndrome: Genotype–Phenotype Correlation.
- Published in:
- Genes, 2022, v. 13, n. 11, p. 2083, doi. 10.3390/genes13112083
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- Publication type:
- Article
A Case of Inherited t(4;10)(q26;q26.2) Chromosomal Translocation Elucidated by Multiple Chromosomal and Molecular Analyses. Case Report and Review of the Literature.
- Published in:
- Genes, 2021, v. 12, n. 12, p. 1957, doi. 10.3390/genes12121957
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- Publication type:
- Article
The Importance of Molecular Genetic Testing for Precision Diagnostics, Management, and Genetic Counseling in MODY Patients.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 12, p. 6318, doi. 10.3390/ijms25126318
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- Publication type:
- Article