Novel FBN1 mutation in a family with inherited Marfan Syndrome: p.Cys2672Arg.
- Published in:
- Congenital Anomalies, 2018, v. 58, n. 1, p. 41, doi. 10.1111/cga.12220
- By:
- Publication type:
- Article
Works matching IS 09143505 AND DT 2018 AND VI 58 AND IP 1
Results: 10
1
2
SIX3 deletions and incomplete penetrance in families affected by holoprosencephaly.
- Published in:
- Congenital Anomalies, 2018, v. 58, n. 1, p. 29, doi. 10.1111/cga.12234
- By:
- Publication type:
- Article
3
A 10q21.3q22.2 microdeletion identified in a patient with severe developmental delay and multiple congenital anomalies including congenital heart defects.
- Published in:
- Congenital Anomalies, 2018, v. 58, n. 1, p. 36, doi. 10.1111/cga.12221
- By:
- Publication type:
- Article
4
A prospective study on fetal posterior cranial fossa assessment for early detection of open spina bifida at 11-13 weeks.
- Published in:
- Congenital Anomalies, 2018, v. 58, n. 1, p. 4, doi. 10.1111/cga.12223
- By:
- Publication type:
- Article
5
Whole exome sequencing identified a novel single base pair insertion mutation in the EYS gene in a six generation family with retinitis pigmentosa.
- Published in:
- Congenital Anomalies, 2018, v. 58, n. 1, p. 10, doi. 10.1111/cga.12225
- By:
- Publication type:
- Article
6
Novel sequence variants in the LIPH and LPAR6 genes underlies autosomal recessive woolly hair/hypotrichosis in consanguineous families.
- Published in:
- Congenital Anomalies, 2018, v. 58, n. 1, p. 24, doi. 10.1111/cga.12226
- By:
- Publication type:
- Article
7
Effects of environmental enrichment on the activity of the amygdala in micrencephalic rats exposed to a novel open field.
- Published in:
- Congenital Anomalies, 2018, v. 58, n. 1, p. 16, doi. 10.1111/cga.12228
- By:
- Publication type:
- Article
8
Issue Information.
- Published in:
- Congenital Anomalies, 2018, v. 58, n. 1, p. 1, doi. 10.1111/cga.12245
- Publication type:
- Article
9
Contiguous gene deletion neighboring TWIST1 identified in a patient with Saethre-Chotzen syndrome associated with neurodevelopmental delay: Possible contribution of HDAC9.
- Published in:
- Congenital Anomalies, 2018, v. 58, n. 1, p. 33, doi. 10.1111/cga.12216
- By:
- Publication type:
- Article
10
Novel splice site mutation in EIF2AK3 gene causes Wolcott-Rallison syndrome in a consanguineous family from Saudi Arabia.
- Published in:
- Congenital Anomalies, 2018, v. 58, n. 1, p. 39, doi. 10.1111/cga.12217
- By:
- Publication type:
- Article