Report of four novel variants in ASNS causing asparagine synthetase deficiency and review of literature.
- Published in:
- Congenital Anomalies, 2018, v. 58, n. 5, p. 181, doi. 10.1111/cga.12275
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- Publication type:
- Article
Works matching IS 09143505 AND DT 2018 AND VI 58 AND IP 5
Results: 9
1
2
Pure 21q22.3 deletion identified in a patient with mild phenotypic features.
- Published in:
- Congenital Anomalies, 2018, v. 58, n. 5, p. 178, doi. 10.1111/cga.12270
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- Publication type:
- Article
3
Predicting the intrauterine fetal death of fetuses with cystic hygroma in early pregnancy.
- Published in:
- Congenital Anomalies, 2018, v. 58, n. 5, p. 167, doi. 10.1111/cga.12269
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- Publication type:
- Article
4
Transcription factor Foxc1 is involved in anterior part of cranial base formation.
- Published in:
- Congenital Anomalies, 2018, v. 58, n. 5, p. 158, doi. 10.1111/cga.12268
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- Publication type:
- Article
5
Novel missense mutation of L1CAM in a fetus with isolated hydrocephalus.
- Published in:
- Congenital Anomalies, 2018, v. 58, n. 5, p. 176, doi. 10.1111/cga.12267
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- Publication type:
- Article
6
Novel sequence variants in the MKKS gene cause Bardet‐Biedl syndrome with intra‐ and inter‐familial variable phenotypes.
- Published in:
- Congenital Anomalies, 2018, v. 58, n. 5, p. 173, doi. 10.1111/cga.12264
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- Publication type:
- Article
7
X‐linked VACTERL‐H caused by deletion of exon 3 in FANCB: A case report.
- Published in:
- Congenital Anomalies, 2018, v. 58, n. 5, p. 171, doi. 10.1111/cga.12262
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- Publication type:
- Article
8
Blechschmidt Collection: Revisiting specimens from a historical collection of serially sectioned human embryos and fetuses using modern imaging techniques.
- Published in:
- Congenital Anomalies, 2018, v. 58, n. 5, p. 152, doi. 10.1111/cga.12261
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- Publication type:
- Article
9
Issue Information.
- Published in:
- Congenital Anomalies, 2018, v. 58, n. 5, p. 149, doi. 10.1111/cga.12249
- Publication type:
- Article