Found: 13
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Complete genome sequencing and variant analysis of a Pakistani individual.
- Published in:
- Journal of Human Genetics, 2013, v. 58, n. 9, p. 622, doi. 10.1038/jhg.2013.72
- By:
- Publication type:
- Article
Breakpoints and deleted genes identification of ring chromosome 18 in a Chinese girl by whole-genome low-coverage sequencing: a case report study.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
Breakpoints Identification of a Balanced Complex Chromosome Rearrangement Case: 46,XX, t(6;15;10;9)(q13;q15;p11.2;q34.3) ins(9;8)(q22.33;q21.1q21.3).
- Published in:
- Clinical Laboratory, 2021, v. 67, n. 4, p. 1095, doi. 10.7754/Clin.Lab.2020.200829
- By:
- Publication type:
- Article
Serum CEA and CA19-9 Levels are Associated with the Presence and Severity of Colorectal Neoplasia.
- Published in:
- Clinical Laboratory, 2018, v. 64, n. 3, p. 351, doi. 10.7754/Clin.Lab.2017.170914
- By:
- Publication type:
- Article
Successful pregnancy after prenatal diagnosis by NGS for a carrier of complex chromosome rearrangements.
- Published in:
- Reproductive Biology & Endocrinology, 2020, v. 18, n. 1, p. 1, doi. 10.1186/s12958-020-00572-5
- By:
- Publication type:
- Article
Analysis of complex chromosomal rearrangements using a combination of current molecular cytogenetic techniques.
- Published in:
- Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00597-y
- By:
- Publication type:
- Article
Highly precise breakpoint detection of chromosome balanced translocation in chronic myelogenous leukaemia: Case series.
- Published in:
- Journal of Cellular & Molecular Medicine, 2022, v. 26, n. 17, p. 4721, doi. 10.1111/jcmm.17500
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- Publication type:
- Article
Maternal interchromosomal insertional translocation leading to 1q43-q44 deletion and duplication in two siblings.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Mapping Breakpoints of Complex Chromosome Rearrangements Involving a Partial Trisomy 15q23.1-q26.2 Revealed by Next Generation Sequencing and Conventional Techniques.
- Published in:
- PLoS ONE, 2016, v. 11, n. 5, p. 1, doi. 10.1371/journal.pone.0154574
- By:
- Publication type:
- Article
Screening of triploid with low-coverage whole-genome sequencing by a single-nucleotide polymorphism-based test in miscarriage tissue.
- Published in:
- Journal of Assisted Reproduction & Genetics, 2019, v. 36, n. 12, p. 2525, doi. 10.1007/s10815-019-01588-6
- By:
- Publication type:
- Article
Successful birth after preimplantation genetic testing for a couple with two different reciprocal translocations and review of the literature.
- Published in:
- Reproductive Biology & Endocrinology, 2021, v. 19, n. 1, p. 1, doi. 10.1186/s12958-021-00731-2
- By:
- Publication type:
- Article
A Robust Approach for Blind Detection of Balanced Chromosomal Rearrangements with Whole-Genome Low-Coverage Sequencing.
- Published in:
- Human Mutation, 2014, v. 35, n. 5, p. 625, doi. 10.1002/humu.22541
- By:
- Publication type:
- Article
A de novo 10q11.23q22.1 deletion detected by whole genome mate-pair sequencing: a case report.
- Published in:
- 2021
- By:
- Publication type:
- journal article