Found: 14
Select item for more details and to access through your institution.
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
- By:
- Publication type:
- Article
Genomics and Epigenomics in the Molecular Biology of Melanoma—A Prerequisite for Biomarkers Studies.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 1, p. 716, doi. 10.3390/ijms24010716
- By:
- Publication type:
- Article
Wolf-Hirschhorn Syndrome: Clinical and Genetic Study of 7 New Cases, and Mini Review.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
Cancer Predisposition Syndromes and Thyroid Cancer: Keys for a Short Two-Way Street.
- Published in:
- Biomedicines, 2023, v. 11, n. 8, p. 2143, doi. 10.3390/biomedicines11082143
- By:
- Publication type:
- Article
Current Data and New Insights into the Genetic Factors of Atherogenic Dyslipidemia Associated with Metabolic Syndrome.
- Published in:
- Diagnostics (2075-4418), 2023, v. 13, n. 14, p. 2348, doi. 10.3390/diagnostics13142348
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
Pallister–Killian Syndrome versus Trisomy 12p—A Clinical Study of 5 New Cases and a Literature Review.
- Published in:
- Genes, 2021, v. 13, n. 6, p. 811, doi. 10.3390/genes12060811
- By:
- Publication type:
- Article
Genetics of Hearing Impairment in North-Eastern Romania—A Cost-Effective Improved Diagnosis and Literature Review.
- Published in:
- Genes, 2020, v. 11, n. 12, p. 1506, doi. 10.3390/genes11121506
- By:
- 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
- By:
- Publication type:
- Article