Found: 18
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Prenatal diagnosis of fetuses with 15q11.2 BP1-BP2 microdeletion in the Chinese population: a seven-year single-center retrospective study.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
Complex genomic rearrangements of the Y chromosome in a premature infant.
- Published in:
- Molecular Cytogenetics (17558166), 2024, v. 17, n. 1, p. 1, doi. 10.1186/s13039-024-00689-x
- By:
- Publication type:
- Article
Clinical features associated with maternal uniparental disomy for chromosome 6.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
Chromosomal instability in a patient with ring chromosome 14 syndrome: a case report.
- Published in:
- Molecular Cytogenetics (17558166), 2024, v. 17, n. 1, p. 1, doi. 10.1186/s13039-024-00686-0
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- Publication type:
- Article
Cytogenomic description of a Mexican cohort with differences in sex development.
- Published in:
- Molecular Cytogenetics (17558166), 2024, v. 17, n. 1, p. 1, doi. 10.1186/s13039-024-00685-1
- By:
- Publication type:
- Article
Mesomelia-synostoses syndrome: contiguous deletion syndrome, SULF1 haploinsufficiency or enhancer adoption?
- Published in:
- 2024
- By:
- Publication type:
- Case Study
Cytogenomic characterization of pediatric T-cell acute lymphoblastic leukemia reveals TCR rearrangements as predictive factors for exceptional prognosis.
- Published in:
- Molecular Cytogenetics (17558166), 2024, v. 17, n. 1, p. 1, doi. 10.1186/s13039-024-00682-4
- By:
- Publication type:
- Article
Efficiency of copy number variation sequencing combined with karyotyping in fetuses with congenital heart disease and the following outcomes.
- Published in:
- Molecular Cytogenetics (17558166), 2024, v. 17, n. 1, p. 1, doi. 10.1186/s13039-024-00681-5
- By:
- Publication type:
- Article
Loss of heterozygosity impacts MHC expression on the immune microenvironment in CDK12-mutated prostate cancer.
- Published in:
- Molecular Cytogenetics (17558166), 2024, v. 17, n. 1, p. 1, doi. 10.1186/s13039-024-00680-6
- By:
- Publication type:
- Article
Noninvasive prenatal testing for the detection of fetal chromosome 17 microduplication: clinical implications and findings.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
Clinical outcomes of screen-positive genome-wide cfDNA cases for trisomy 20: results from the global expanded NIPT Consortium.
- Published in:
- Molecular Cytogenetics (17558166), 2024, v. 17, n. 1, p. 1, doi. 10.1186/s13039-024-00677-1
- By:
- Publication type:
- Article
Mosaic derivative chromosomes at chorionic villi (CV) sampling are expression of genomic instability and precursors of cryptic disease-causing rearrangements: report of further four cases.
- Published in:
- Molecular Cytogenetics (17558166), 2024, v. 17, n. 1, p. 1, doi. 10.1186/s13039-024-00675-3
- By:
- Publication type:
- Article
X chromosome rearrangement associated with premature ovarian insufficiency as diagnosed by molecular cytogenetic methods: a case report and review of the literature.
- Published in:
- Molecular Cytogenetics (17558166), 2024, v. 17, n. 1, p. 1, doi. 10.1186/s13039-024-00676-2
- By:
- Publication type:
- Article
Family case of Potocki-Lupski syndrome.
- Published in:
- Molecular Cytogenetics (17558166), 2024, v. 17, n. 1, p. 1, doi. 10.1186/s13039-024-00673-5
- By:
- Publication type:
- Article
11p13 microduplication: a differential diagnosis of Silver–Russell syndrome?
- Published in:
- 2024
- By:
- Publication type:
- Case Study
Identification of chromosomal abnormalities in miscarriages by CNV-Seq.
- Published in:
- Molecular Cytogenetics (17558166), 2024, v. 17, n. 1, p. 1, doi. 10.1186/s13039-024-00671-7
- By:
- Publication type:
- Article
Contribution of genetic variants to congenital heart defects in both singleton and twin fetuses: a Chinese cohort study.
- Published in:
- Molecular Cytogenetics (17558166), 2024, v. 17, n. 1, p. 1, doi. 10.1186/s13039-023-00664-y
- By:
- Publication type:
- Article
Maternal uniparental disomy for chromosome 6 in 2 prenatal cases with IUGR: case report and literature review.
- Published in:
- 2024
- By:
- Publication type:
- Case Study