Found: 19
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An 11.4-Mb Interstitial Deletion in a Fetus with No Apparent Phenotypic Alterations.
- Published in:
- Molecular Syndromology, 2017, v. 8, n. 1, p. 42, doi. 10.1159/000452967
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- Publication type:
- Article
Case report of newborn with <bold><italic>de novo</italic></bold> partial trisomy 2q31.2-37.3 and monosomy 9p24.3.
- Published in:
- Journal of Genetics, 2018, v. 97, n. 1, p. 311, doi. 10.1007/s12041-017-0879-3
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- Article
A case of triploidy detected by crosstrimester test.
- Published in:
- 2012
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- Publication type:
- Case Study
Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA).
- Published in:
- Human Genetics, 2005, v. 117, n. 1, p. 92, doi. 10.1007/s00439-005-1270-7
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- Publication type:
- Article
Cystic hygroma and mid-trimester maternal serum screening.
- Published in:
- Journal of Medical Screening, 2007, v. 14, n. 3, p. 109, doi. 10.1258/096914107782066167
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- Publication type:
- Article
Trisomy18 fetuses with cystic hygroma linked to positive maternal serum Down's syndrome Triple test screening result.
- Published in:
- Journal of Medical Screening, 2005, v. 12, n. 4, p. 203, doi. 10.1258/096914105775220651
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- Publication type:
- Article
HNRNPL Restrains miR-155 Targeting of BUB1 to Stabilize Aberrant Karyotypes of Transformed Cells in Chronic Lymphocytic Leukemia.
- Published in:
- Cancers, 2019, v. 11, n. 4, p. 575, doi. 10.3390/cancers11040575
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- Publication type:
- Article
First case of two supernumerary markers derived from chromosome 5 and chromosome 8.
- Published in:
- Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00601-5
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- Publication type:
- Article
Aneuploidy screening using circulating fetal cells in maternal blood by dual-probe FISH protocol: a prospective feasibility study on a series of 172 pregnant women.
- Published in:
- Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 6, p. 634, doi. 10.1002/mgg3.249
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- Publication type:
- Article
Rhombencephalosynapsis in a severely polymalformed fetus with non-mosaic tetrasomy 9p, in intracytoplasmic-sperm-injection pregnancy.
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- Journal of Assisted Reproduction & Genetics, 2008, v. 25, n. 11/12, p. 577, doi. 10.1007/s10815-008-9257-7
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- Publication type:
- Article
Mayer-Rokitansky-Küster-Hauser syndrome with 22q11.21 microduplication: a case report.
- Published in:
- 2021
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- Publication type:
- journal article
Chromosome 11 rearrangements and specific MLL amplification revealed by spectral karyotyping in a patient with refractory anaemia with excess of blasts (RAEB).
- Published in:
- British Journal of Haematology, 2003, v. 122, n. 5, p. 760, doi. 10.1046/j.1365-2141.2003.04493.x
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- Publication type:
- Article
Optimal cut-offs for Down syndrome contingent screening in a population of 10,156 pregnant women.
- Published in:
- 2012
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- Publication type:
- journal article
Optimal cut-offs for down syndrome contingent screening in a population of 10 156 pregnant women.
- Published in:
- Prenatal Diagnosis, 2012, v. 32, n. 12, p. 1147, doi. 10.1002/pd.3974
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- Publication type:
- Article
Comparison of combined, stepwise sequential, contingent, and integrated screening in 7292 high-risk pregnant women.
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- Prenatal Diagnosis, 2011, v. 31, n. 11, p. 1077, doi. 10.1002/pd.2836
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- Publication type:
- Article
Effectiveness of crosstrimester test in selecting high-risk pregnant women to undergo invasive prenatal diagnosis.
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- Prenatal Diagnosis, 2010, v. 30, n. 8, p. 795, doi. 10.1002/pd.2539
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- Publication type:
- Article
Lack of correlation between elevated maternal serum hCG during second-trimester biochemical screening and fetal congenital anomaly.
- Published in:
- Prenatal Diagnosis, 2005, v. 25, n. 3, p. 220, doi. 10.1002/pd.1110
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- Publication type:
- Article
Fetal Facial Profile in Pallister-Killian Syndrome.
- Published in:
- Fetal Diagnosis & Therapy, 2008, v. 23, n. 1, p. 15, doi. 10.1159/000109220
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- Publication type:
- Article
Sequential combined test, second trimester maternal serum markers, and circulating fetal cells to select women for invasive prenatal diagnosis.
- Published in:
- PLoS ONE, 2017, v. 12, n. 12, p. 1, doi. 10.1371/journal.pone.0189235
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- Publication type:
- Article