Neurofibromatosis type 1 due to possible maternal mosaicism in a family with two affected siblings.
- Published in:
- Congenital Anomalies, 2020, v. 60, n. 5, p. 156, doi. 10.1111/cga.12373
- By:
- Publication type:
- Article
Works matching IS 09143505 AND DT 2020 AND VI 60 AND IP 5
Results: 9
1
2
Issue Information.
- Published in:
- Congenital Anomalies, 2020, v. 60, n. 5, p. 133, doi. 10.1111/cga.12344
- Publication type:
- Article
3
Announcement.
- Published in:
- Congenital Anomalies, 2020, v. 60, n. 5, p. 158, doi. 10.1111/cga.12390
- Publication type:
- Article
4
Multiple craniosynostosis and facial dysmorphisms with homozygous IL11RA variant caused by maternal uniparental isodisomy of chromosome 9.
- Published in:
- Congenital Anomalies, 2020, v. 60, n. 5, p. 153, doi. 10.1111/cga.12371
- By:
- Publication type:
- Article
5
Infant with trisomy 13 who developed acute elevation of intraocular pressure and glaucoma.
- Published in:
- Congenital Anomalies, 2020, v. 60, n. 5, p. 151, doi. 10.1111/cga.12367
- By:
- Publication type:
- Article
6
Maternal administration of bisphenol A alters the microglial profile in the neocortex of mouse weanlings.
- Published in:
- Congenital Anomalies, 2020, v. 60, n. 5, p. 142, doi. 10.1111/cga.12370
- By:
- Publication type:
- Article
7
Variants in NIPAL4 and ALOXE3 cause autosomal recessive congenital ichthyosis in Pakistani families.
- Published in:
- Congenital Anomalies, 2020, v. 60, n. 5, p. 149, doi. 10.1111/cga.12366
- By:
- Publication type:
- Article
8
Amniotic fluid levels of selected trace elements and heavy metals in pregnancies complicated with neural tube defects.
- Published in:
- Congenital Anomalies, 2020, v. 60, n. 5, p. 136, doi. 10.1111/cga.12363
- By:
- Publication type:
- Article
9
5‐Aminolevulinic acid can ameliorate language dysfunction of patients with ATR‐X syndrome.
- Published in:
- Congenital Anomalies, 2020, v. 60, n. 5, p. 147, doi. 10.1111/cga.12365
- By:
- Publication type:
- Article