Facilitating variant curation sharing for fetal precision genomics: A new venture for prenatal diagnosis.
- Published in:
- Prenatal Diagnosis, 2022, v. 42, n. 12, p. 1479, doi. 10.1002/pd.6252
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- Publication type:
- Article
Works matching IS 01973851 AND DT 2022 AND VI 42 AND IP 12
Results: 14
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Prenatal diagnosis of PERCHING syndrome caused by homozygous loss of function variant in the KLHL7 gene.
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- Prenatal Diagnosis, 2022, v. 42, n. 12, p. 1481, doi. 10.1002/pd.6249
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- Article
3
Upgrading an intronic TMEM67 variant of unknown significance to likely pathogenic through RNA studies and community data sharing.
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- Prenatal Diagnosis, 2022, v. 42, n. 12, p. 1484, doi. 10.1002/pd.6248
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- Article
4
Prenatal diagnosis of generalized arterial calcification of infancy in the second trimester.
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- Prenatal Diagnosis, 2022, v. 42, n. 12, p. 1538, doi. 10.1002/pd.6245
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- Publication type:
- Article
5
Foetal loss after chorionic villus sampling and amniocentesis in twin pregnancies: A multicentre retrospective cohort study.
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- Prenatal Diagnosis, 2022, v. 42, n. 12, p. 1554, doi. 10.1002/pd.6237
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- Publication type:
- Article
6
Chromosomal microarray analysis in pregnancy loss: Is it time for a consensus approach?
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- Prenatal Diagnosis, 2022, v. 42, n. 12, p. 1545, doi. 10.1002/pd.6244
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- Publication type:
- Article
7
Medical termination of pregnancy for fetal anomaly at or beyond 20 weeks' gestation—What are the maternal risks?
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- Prenatal Diagnosis, 2022, v. 42, n. 12, p. 1562, doi. 10.1002/pd.6241
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- Publication type:
- Article
8
Impact of variation in practice in the prenatal reporting of variants of uncertain significance by commercial laboratories: Need for greater adherence to published guidelines.
- Published in:
- Prenatal Diagnosis, 2022, v. 42, n. 12, p. 1514, doi. 10.1002/pd.6232
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- Article
9
Prenatal diagnosis of Coffin‐Siris syndrome: What are the fetal features?
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- Prenatal Diagnosis, 2022, v. 42, n. 12, p. 1488, doi. 10.1002/pd.6213
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- Article
10
Prenatal ultrasonographic features in Blomstrand osteochondrodysplasia: Antenatal case series confirmed by postmortem radiology and molecular diagnosis.
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- Prenatal Diagnosis, 2022, v. 42, n. 12, p. 1503, doi. 10.1002/pd.6208
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- Article
11
Prenatal ultrasound findings associated with PIGW variants: One more piece in the FRYNS syndrome puzzle? PIGW‐related prenatal findings.
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- Prenatal Diagnosis, 2022, v. 42, n. 12, p. 1493, doi. 10.1002/pd.6204
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- Publication type:
- Article
12
Genetic spectrum of prenatally diagnosed skeletal dysplasias in a Finnish patient cohort.
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- Prenatal Diagnosis, 2022, v. 42, n. 12, p. 1525, doi. 10.1002/pd.6186
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- Publication type:
- Article
13
Prenatal diagnosis of Cornelia de Lange syndrome from 12 to 17 weeks' gestation.
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- Prenatal Diagnosis, 2022, v. 42, n. 12, p. 1511, doi. 10.1002/pd.6164
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- Article
14
Issue Information.
- Published in:
- Prenatal Diagnosis, 2022, v. 42, n. 12, p. 1477, doi. 10.1002/pd.5969
- Publication type:
- Article