Found: 28
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Characterization of an immortalized human granulosa cell line (COV434).
- Published in:
- Molecular Human Reproduction, 2000, v. 6, n. 2, doi. 10.1093/molehr/6.2.146
- By:
- Publication type:
- Article
Congenital heart disease in the 48,XXYY syndrome.
- Published in:
- Clinical Genetics, 1995, v. 48, n. 2, p. 100, doi. 10.1111/j.1399-0004.1995.tb04064.x
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- Publication type:
- Article
Chorionic villi sampling with an echogenic catheter: experiences of the first 500 cases.
- Published in:
- Journal of Perinatal Medicine, 1987, v. 15, n. 3, p. 244
- By:
- Publication type:
- Article
Expanding the spectrum of SMAD3‐related phenotypes to agnathia‐otocephaly.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 4, p. 1, doi. 10.1002/mgg3.1178
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- Publication type:
- Article
Chromosomal Microarrays in Prenatal Diagnosis: Time for a Change of Policy?
- Published in:
- Microarrays (2076-3905), 2013, v. 2, n. 4, p. 304, doi. 10.3390/microarrays2040304
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- Publication type:
- Article
Anterior segment dysgenesis associated with Williams-Beuren syndrome: a case report and review of the literature.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Anterior segment dysgenesis associated with Williams-Beuren syndrome: a case report and review of the literature.
- Published in:
- 2014
- By:
- Publication type:
- journal article
How genomics is changing the practice of prenatal testing.
- Published in:
- Journal of Perinatal Medicine, 2021, v. 49, n. 8, p. 1003, doi. 10.1515/jpm-2021-0220
- By:
- Publication type:
- Article
Cardiac defects in chromosomally abnormal human embryos of 10-14 weeks' gestation.
- Published in:
- 1988
- By:
- Publication type:
- journal article
Rapid karyotyping for prenatal diagnosis in the second and third trimesters of pregnancy.
- Published in:
- Prenatal Diagnosis, 1988, v. 8, n. 4, p. 315, doi. 10.1002/pd.1970080413
- By:
- Publication type:
- Article
APPLICATION OF MLPA (MULTIPLEX LIGATION-DEPENDENT PROBE AMPLIFICATION) IN FETUSES WITH AN ABNORMAL SONOGRAM AND NORMAL KARYOTYPE.
- Published in:
- Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi, 2019, v. 82, n. 1, p. 5, doi. 10.26650/IUITFD.413596
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- Publication type:
- Article
Microarray-Based Maps of Copy-Number Variant Regions in European and Sub-Saharan Populations.
- Published in:
- PLoS ONE, 2010, v. 5, n. 12, p. 1, doi. 10.1371/journal.pone.0015246
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- Publication type:
- Article
Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3).
- Published in:
- Human Genetics, 2009, v. 125, n. 5/6, p. 581, doi. 10.1007/s00439-009-0653-6
- By:
- Publication type:
- Article
Interstitial Deletion 4q due to a Complex Rearrangement Involving Chromosomes 1, 2, 4, 8, 14 and 16.
- Published in:
- Gazi Medical Journal, 2018, v. 29, n. 3, p. 256, doi. 10.12996/gmj.2018.73
- By:
- Publication type:
- Article
The mutation spectrum in RECQL4 diseases.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 2, p. 151, doi. 10.1038/ejhg.2008.154
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- Publication type:
- Article
Genetic testing services in Europe: Quality assurance and policy issues.
- Published in:
- Journal of Commercial Biotechnology, 2001, v. 8, n. 2, p. 113, doi. 10.5912/jcb421
- By:
- Publication type:
- Article
Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene.
- Published in:
- Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 3, p. 359, doi. 10.1002/mgg3.209
- By:
- Publication type:
- Article
Array comparative genomic hybridization in prenatal diagnosis of first trimester pregnancies at high risk for chromosomal anomalies.
- Published in:
- Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 38, doi. 10.1186/1755-8166-5-38
- By:
- Publication type:
- Article
Author's reply to Toutain's correspondence.
- Published in:
- Prenatal Diagnosis, 2011, v. 31, n. 11, p. 1113, doi. 10.1002/pd.2878
- By:
- Publication type:
- Article
aCGH on chorionic villi mirrors the complexity of fetoplacental mosaicism in prenatal diagnosis.
- Published in:
- Prenatal Diagnosis, 2011, v. 31, n. 5, p. 473, doi. 10.1002/pd.2721
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- Publication type:
- Article
Postnatal follow-up of prenatally diagnosed trisomy 16 mosaicism.
- Published in:
- Prenatal Diagnosis, 2006, v. 26, n. 6, p. 548, doi. 10.1002/pd.1457
- By:
- Publication type:
- Article
Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF.
- Published in:
- Human Mutation, 2016, v. 37, n. 7, p. 711, doi. 10.1002/humu.22997
- By:
- Publication type:
- Article
Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF.
- Published in:
- Human Mutation, 2016, v. 37, n. 4, p. 359, doi. 10.1002/humu.22960
- By:
- Publication type:
- Article
Duplication dup(1)(q32q44) detected by comparative genomic hybridization (CGH): further delineation of trisomies 1q.
- Published in:
- 2001
- By:
- Publication type:
- journal article
Clinical, Cytogenetic and Molecular Cytogenetic Outcomes of Cell-Free DNA Testing for Rare Chromosomal Anomalies.
- Published in:
- Genes, 2022, v. 13, n. 12, p. 2389, doi. 10.3390/genes13122389
- By:
- Publication type:
- Article
Genetische Untersuchungen während der Schwangerschaft und beim Kind.
- Published in:
- Therapeutische Umschau, 2013, v. 70, n. 11, p. 621, doi. 10.1024/0040-5930/a000457
- By:
- Publication type:
- Article
A novel mutation in exon 8 of the phenylalanine hydroxylase gene in the Polish population.
- Published in:
- Human Mutation, 1993, v. 2, n. 1, p. 74, doi. 10.1002/humu.1380020114
- By:
- Publication type:
- Article
Maternal cell contamination in chorionic villi cultures - Exclusion by chromosomal fluorescence polymorphisms.
- Published in:
- Clinical Genetics, 1985, v. 28, n. 3, p. 262, doi. 10.1111/j.1399-0004.1985.tb00398.x
- By:
- Publication type:
- Article