Performance of single‐gene noninvasive prenatal testing for autosomal recessive conditions in a general population setting.
- Published in:
- Prenatal Diagnosis, 2023, v. 43, n. 10, p. 1344, doi. 10.1002/pd.6427
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- Publication type:
- Article
Works matching IS 01973851 AND DT 2023 AND VI 43 AND IP 10
Results: 14
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Prenatal diagnosis of Myhre syndrome with a heterozygous pathogenic variant in SMAD4 gene presented with thick nuchal translucency and cardiac abnormalities.
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- Prenatal Diagnosis, 2023, v. 43, n. 10, p. 1366, doi. 10.1002/pd.6414
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- Article
3
Correction to Laser therapy versus expectant management for selective fetal growth restriction in monochorionic twins: A systematic review.
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- Prenatal Diagnosis, 2023, v. 43, n. 10, p. 1378, doi. 10.1002/pd.6430
- Publication type:
- Article
4
Cx43 regulates mechanotransduction mechanisms in human preterm amniotic membrane defects.
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- Prenatal Diagnosis, 2023, v. 43, n. 10, p. 1284, doi. 10.1002/pd.6429
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- Publication type:
- Article
5
Lung proliferation is dependent on the duration not the timepoint of tracheal occlusion in nitrofen rats with diaphragmatic hernia.
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- Prenatal Diagnosis, 2023, v. 43, n. 10, p. 1274, doi. 10.1002/pd.6428
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- Publication type:
- Article
6
Prenatal assessment of pulmonary vasculature development in fetuses with congenital diaphragmatic hernia: A literature review.
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- Prenatal Diagnosis, 2023, v. 43, n. 10, p. 1296, doi. 10.1002/pd.6412
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- Publication type:
- Article
7
SMARCC1 is a susceptibility gene for congenital hydrocephalus with an autosomal dominant inheritance mode and incomplete penetrance.
- Published in:
- Prenatal Diagnosis, 2023, v. 43, n. 10, p. 1374, doi. 10.1002/pd.6426
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- Publication type:
- Article
8
What helps define outcomes in persistent uninterpretable non‐invasive prenatal testing: Maternal factors, fetal fraction or quality scores?
- Published in:
- Prenatal Diagnosis, 2023, v. 43, n. 10, p. 1333, doi. 10.1002/pd.6423
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- Publication type:
- Article
9
A novel PIEZO2 mutation in a fetus from a Chinese family with Gordon syndrome.
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- Prenatal Diagnosis, 2023, v. 43, n. 10, p. 1370, doi. 10.1002/pd.6422
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- Publication type:
- Article
10
Non‐invasive prenatal testing (NIPT): Combination of copy number variant and gene analyses using an "in‐house" target enrichment next generation sequencing—Solution for non‐centralized NIPT laboratory?
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- Prenatal Diagnosis, 2023, v. 43, n. 10, p. 1320, doi. 10.1002/pd.6421
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- Publication type:
- Article
11
Prenatal diagnosis of cleft lip and/or palate: What do we tell prospective parents?
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- Prenatal Diagnosis, 2023, v. 43, n. 10, p. 1310, doi. 10.1002/pd.6418
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- Publication type:
- Article
12
Shortened fetal long bones: A notable intrauterine phenotypic feature in SHOX‐associated skeletal dysplasia.
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- Prenatal Diagnosis, 2023, v. 43, n. 10, p. 1355, doi. 10.1002/pd.6417
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- Article
13
Syndromic congenital diaphragmatic hernia: Current incidence and outcome. Analysis from the congenital diaphragmatic hernia study group registry.
- Published in:
- Prenatal Diagnosis, 2023, v. 43, n. 10, p. 1265, doi. 10.1002/pd.6407
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- Publication type:
- Article
14
Issue Information.
- Published in:
- Prenatal Diagnosis, 2023, v. 43, n. 10, p. 1263, doi. 10.1002/pd.6182
- Publication type:
- Article