Found: 16
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Phenotypic effects of balanced X-autosome translocations in females: a retrospective survey of 104 cases reported from UK laboratories.
- Published in:
- Human Genetics, 2001, v. 108, n. 4, p. 318, doi. 10.1007/s004390100465
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- Publication type:
- Article
De Novo Interstitial Microdeletion at 1q32.1 in a 10-Year-Old Boy with Developmental Delay and Dysmorphism.
- Published in:
- Case Reports in Genetics, 2016, p. 1, doi. 10.1155/2016/2501741
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- Publication type:
- Article
Confined placental mosaicism: implications for fetal chromosomal analysis using microarray comparative genomic hybridization.
- Published in:
- Prenatal Diagnosis, 2014, v. 34, n. 1, p. 98, doi. 10.1002/pd.4255
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- Publication type:
- Article
Completely discrepant results between prenatal QF-PCR rapid aneuploidy testing and cultured cell karyotyping obtained from CVS: lessons from UK audit and re-audit of 22,221 cases.
- Published in:
- Prenatal Diagnosis, 2012, v. 32, n. 9, p. 909, doi. 10.1002/pd.3915
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- Publication type:
- Article
The population impact of screening for Down syndrome: audit of 19 326 invasive diagnostic tests in England and Wales in 2008.
- Published in:
- Prenatal Diagnosis, 2012, v. 32, n. 6, p. 596, doi. 10.1002/pd.3866
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- Publication type:
- Article
Re: Incidence of discrepant results between QF-PCR and karyotype testing in chorion villus samples: UK experience.
- Published in:
- Prenatal Diagnosis, 2012, v. 32, n. 5, p. 503, doi. 10.1002/pd.2925
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- Publication type:
- Article
Ring Chromosome 17 Not Involving the Miller-Dieker Region: A Case with Drug-Resistant Epilepsy.
- Published in:
- Molecular Syndromology, 2017, v. 9, n. 1, p. 38, doi. 10.1159/000479949
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- Publication type:
- Article
Prenatal diagnosis of monosomy 18p involving a jumping translocation.
- Published in:
- Prenatal Diagnosis, 2008, v. 28, n. 8, p. 764, doi. 10.1002/pd.2030
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- Publication type:
- Article
Complete discrepancy between QF-PCR analysis of uncultured villi and karyotyping of cultured cells in the prenatal diagnosis of trisomy 21 in three CVS.
- Published in:
- Prenatal Diagnosis, 2007, v. 27, n. 4, p. 332, doi. 10.1002/pd.1675
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- Publication type:
- Article
Complete discrepancy between abnormal fetal karyotypes predicted by QF-PCR rapid testing and karyotyped cultured cells in a first-trimester CVS.
- Published in:
- Prenatal Diagnosis, 2006, v. 26, n. 10, p. 892, doi. 10.1002/pd.1519
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- Publication type:
- Article
Prenatal diagnosis by rapid aneuploidy detection and karyotyping: a prospective study of the role of ultrasound in 1589 second-trimester amniocenteses.
- Published in:
- Prenatal Diagnosis, 2004, v. 24, n. 10, p. 790, doi. 10.1002/pd.985
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- Publication type:
- Article
Trends in cytogenetic prenatal diagnosis in the UK: results from UKNEQAS external audit, 1987-1998.
- Published in:
- 1999
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- Publication type:
- journal article
The future of prenatal diagnosis: rapid testing or full karyotype? An audit of chromosome abnormalities and pregnancy outcomes for women referred for Down's Syndrome testing.
- Published in:
- BJOG: An International Journal of Obstetrics & Gynaecology, 2005, v. 112, n. 10, p. 1369, doi. 10.1111/j.1471-0528.2005.00695.x
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- Publication type:
- Article
The idic(15) syndrome: Expanding the phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1505, doi. 10.1002/ajmg.a.35366
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- Publication type:
- Article
Inherited 2q23.1 microdeletions involving the MBD5 locus.
- Published in:
- Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 5, p. 608, doi. 10.1002/mgg3.316
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- Publication type:
- Article
A Novel Variant in the TBC1D24 Lipid-Binding Pocket Causes Autosomal Dominant Hearing Loss: Evidence for a Genotype-Phenotype Correlation.
- Published in:
- Frontiers in Cellular Neuroscience, 2020, v. 14, p. N.PAG, doi. 10.3389/fncel.2020.585669
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- Publication type:
- Article