Carnitine palmitoyltransferase II deficiency in a prenatal case with polycystic kidney disease‐like phenotype.
- Published in:
- Congenital Anomalies, 2020, v. 60, n. 4, p. 131, doi. 10.1111/cga.12357
- By:
- Publication type:
- Article
Works matching IS 09143505 AND DT 2020 AND VI 60 AND IP 4
Results: 7
1
2
Issue Information.
- Published in:
- Congenital Anomalies, 2020, v. 60, n. 4, p. 103, doi. 10.1111/cga.12343
- Publication type:
- Article
3
Nanopore sequencing reveals a structural alteration of mirror‐image duplicated genes in a genome‐editing mouse line.
- Published in:
- Congenital Anomalies, 2020, v. 60, n. 4, p. 120, doi. 10.1111/cga.12364
- By:
- Publication type:
- Article
4
Novel heterozygous sequence variant in the GLI1 underlies postaxial polydactyly.
- Published in:
- Congenital Anomalies, 2020, v. 60, n. 4, p. 115, doi. 10.1111/cga.12361
- By:
- Publication type:
- Article
5
Three‐dimensional evaluation of morphology and position of impacted supernumerary teeth in cases of cleidocranial dysplasia.
- Published in:
- Congenital Anomalies, 2020, v. 60, n. 4, p. 106, doi. 10.1111/cga.12358
- By:
- Publication type:
- Article
6
Tumor predisposition in an individual with chromosomal rearrangements of 1q31.2‐q41 encompassing cell division cycle protein 73.
- Published in:
- Congenital Anomalies, 2020, v. 60, n. 4, p. 128, doi. 10.1111/cga.12356
- By:
- Publication type:
- Article
7
IDUA gene mutations in mucopolysaccharidosis type‐1 patients from two Pakistani inbred families.
- Published in:
- Congenital Anomalies, 2020, v. 60, n. 4, p. 126, doi. 10.1111/cga.12354
- By:
- Publication type:
- Article