Found: 10
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The intermediate alleles of the fragile X CGG repeat in patients with mental retardation.
- Published in:
- Clinical Genetics, 1998, v. 53, n. 3, p. 200, doi. 10.1111/j.1399-0004.1998.tb02676.x
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- Publication type:
- Article
Parental origin and mechanisms of formation of three eases of 12p tetrasomy.
- Published in:
- Clinical Genetics, 1996, v. 50, n. 1, p. 41, doi. 10.1111/j.1399-0004.1996.tb02344.x
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- Publication type:
- Article
Hyperechogenic fetal bowel and Down syndrome. Results of a French collaborative study based on 680 prospective cases.
- Published in:
- 2002
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- Publication type:
- journal article
Correlation of alkaline phosphatase (ALP) determination and analysis of the tissue non-specific ALP gene in prenatal diagnosis of severe hypophosphatasia.
- Published in:
- Prenatal Diagnosis, 1999, v. 19, n. 8, p. 755, doi. 10.1002/(SICI)1097-0223(199908)19:8<755::AID-PD629>3.0.CO;2-#
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- Publication type:
- Article
A Molecular-Based Estimation of the Prevalence of Hypophosphatasia in the European Population.
- Published in:
- Annals of Human Genetics, 2011, v. 75, n. 3, p. 439, doi. 10.1111/j.1469-1809.2011.00642.x
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- Publication type:
- Article
How can the genetic risks of embryo donation be minimized?
- Published in:
- Human Reproduction, 2004, v. 19, n. 8, p. 1685, doi. 10.1093/humrep/deh328
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- Publication type:
- Article
Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France.
- Published in:
- 2019
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- Publication type:
- journal article
Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling.
- Published in:
- Prenatal Diagnosis, 2008, v. 28, n. 11, p. 993, doi. 10.1002/pd.2088
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- Publication type:
- Article
Screening of CYP21 gene mutations in 129 French patients affected by steroid 21-hydroxylase deficiency.
- Published in:
- Human Mutation, 1995, v. 5, n. 2, p. 126, doi. 10.1002/humu.1380050205
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- Publication type:
- Article
The ΔF508 mutation in mild adult forms of cystic fibrosis (CF).
- Published in:
- Clinical Genetics, 1991, v. 39, n. 4, p. 304, doi. 10.1111/j.1399-0004.1991.tb03030.x
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- Publication type:
- Article