Detalhe da pesquisa
1.
Exome sequencing in a Romanian Bardet-Biedl syndrome cohort revealed an overabundance of causal BBS12 variants.
Am J Med Genet A
; 191(9): 2376-2391, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37293956
2.
Narrative Review: Update on the Molecular Diagnosis of Fragile X Syndrome.
Int J Mol Sci
; 24(11)2023 May 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-37298158
3.
Genomics and Epigenomics in the Molecular Biology of Melanoma-A Prerequisite for Biomarkers Studies.
Int J Mol Sci
; 24(1)2022 Dec 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-36614156
4.
Genetic Counseling and Management: The First Study to Report NIPT Findings in a Romanian Population.
Medicina (Kaunas)
; 58(1)2022 Jan 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35056387
5.
Gorham-Stout Disease with Multiple Bone Involvement-Challenging Diagnosis of a Rare Disease and Literature Review.
Medicina (Kaunas)
; 57(7)2021 Jul 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34356962
6.
Comparison between paramagnetic and CD71 magnetic activated cell sorting of fetal nucleated red blood cells from the maternal blood.
J Clin Lab Anal
; 34(9): e23420, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32588489
7.
Classification of osteogenesis imperfecta: Importance for prophylaxis and genetic counseling.
World J Clin Cases
; 11(12): 2604-2620, 2023 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37214584
8.
Cancer Predisposition Syndromes and Thyroid Cancer: Keys for a Short Two-Way Street.
Biomedicines
; 11(8)2023 Jul 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37626640
9.
A Scoping Review of the Relationship between Intermittent Fasting and the Human Gut Microbiota: Current Knowledge and Future Directions.
Nutrients
; 15(9)2023 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37432222
10.
From the Sun to the Cell: Examining Obesity through the Lens of Vitamin D and Inflammation.
Metabolites
; 14(1)2023 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38276294
11.
Hydatidiform Mole-Between Chromosomal Abnormality, Uniparental Disomy and Monogenic Variants: A Narrative Review.
Life (Basel)
; 13(12)2023 Dec 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38137915
12.
Genetic Heterogeneity in Bartter Syndrome: Clinical and Practical Importance.
Front Pediatr
; 10: 908655, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35722471
13.
Pituitary hypoplasia and growth hormone deficiency in a patient with Coffin-Siris syndrome and severe short stature: case report and literature review.
Arch Clin Cases
; 9(3): 121-125, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36176497
14.
Epidermolysis Bullosa-A Different Genetic Approach in Correlation with Genetic Heterogeneity.
Diagnostics (Basel)
; 12(6)2022 May 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35741135
15.
Monitoring and Management of Bardet-Biedl Syndrome: What the Multi-Disciplinary Team Can Do.
J Multidiscip Healthc
; 15: 2153-2167, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36193191
16.
SHOX Deletion and Idiopathic Short Stature: What Does the Clinician Need to Know? Case Series Report.
Diagnostics (Basel)
; 13(1)2022 Dec 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-36611397
17.
Heterogeneity in combined immunodeficiencies with associated or syndromic features (Review).
Exp Ther Med
; 21(1): 84, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-33363595
18.
Bardet-Biedl Syndrome-Multiple Kaleidoscope Images: Insight into Mechanisms of Genotype-Phenotype Correlations.
Genes (Basel)
; 12(9)2021 08 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34573333
19.
Circular RNA-Is the Circle Perfect?
Biomolecules
; 11(12)2021 11 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-34944400
20.
Novel Mutation in APC Gene Associated with Multiple Osteomas in a Family and Review of Genotype-Phenotype Correlations of Extracolonic Manifestations in Gardner Syndrome.
Diagnostics (Basel)
; 11(9)2021 Aug 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-34573902