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Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series.
- Published in:
- Prenatal Diagnosis, 2022, v. 42, n. 1, p. 118, doi. 10.1002/pd.6074
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- Publication type:
- Article
Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, XYY syndromes: a 30-year French, retrospective, multicentre study.
- Published in:
- 2016
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- Publication type:
- journal article
Prenatal diagnosis of 24 cases of microduplication 22q11.2: an investigation of phenotype-genotype correlations.
- Published in:
- Prenatal Diagnosis, 2015, v. 35, n. 1, p. 35, doi. 10.1002/pd.4478
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- Publication type:
- Article
Double chromosomal translocation in an infertile man: one-step FISH meiotic segregation analysis and reproductive prognosis.
- Published in:
- Journal of Assisted Reproduction & Genetics, 2019, v. 36, n. 5, p. 973, doi. 10.1007/s10815-019-01430-z
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- Publication type:
- Article
Two novel variations p.(Ser1275Thr) and p.(Ser1275Arg) in FLT4 causing prenatal hereditary lymphedema type 1.
- Published in:
- Birth Defects Research, 2023, v. 115, n. 5, p. 563, doi. 10.1002/bdr2.2141
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- Publication type:
- Article
Inherited interstitial 16q21 deletion of 5.8 Mb without apparent phenotypic effect in three generations of a family: An array-CGH study.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2597, doi. 10.1002/ajmg.a.34210
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- Publication type:
- Article
Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2081, doi. 10.1002/ajmg.a.38302
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- Publication type:
- Article
Lack of consensus in the choice of termination of pregnancy for Turner syndrome in France.
- Published in:
- 2019
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- Publication type:
- journal article