Germline mosaicism in a collagen VI‐related myopathy family: A cause of autosomal recessive inheritance.
- Published in:
- Congenital Anomalies, 2021, v. 61, n. 5, p. 197, doi. 10.1111/cga.12418
- By:
- Publication type:
- Article
Works matching IS 09143505 AND DT 2021 AND VI 61 AND IP 5
Results: 11
1
2
Issue Information.
- Published in:
- Congenital Anomalies, 2021, v. 61, n. 5, p. 145, doi. 10.1111/cga.12379
- Publication type:
- Article
3
A novel variant in the DSE gene leads to Ehlers–Danlos musculocontractural type 2 in a Pakistani family.
- Published in:
- Congenital Anomalies, 2021, v. 61, n. 5, p. 177, doi. 10.1111/cga.12436
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- Publication type:
- Article
4
Two cases of cytochrome P450 oxidoreductase deficiency with severe scoliosis and surgery requirement.
- Published in:
- Congenital Anomalies, 2021, v. 61, n. 5, p. 202, doi. 10.1111/cga.12434
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- Publication type:
- Article
5
Jejunal infantile fibrosarcoma: An unusual cause of neonatal intestinal obstruction.
- Published in:
- Congenital Anomalies, 2021, v. 61, n. 5, p. 199, doi. 10.1111/cga.12433
- By:
- Publication type:
- Article
6
A comparison of the maternal levels of serum proprotein convertase subtilisin/kexin type 9 in pregnant women with the complication of fetal open neural tube defects.
- Published in:
- Congenital Anomalies, 2021, v. 61, n. 5, p. 169, doi. 10.1111/cga.12432
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- Publication type:
- Article
7
Metacarpophalangeal profile pattern analysis in a further patient with a novel ARID1B variant.
- Published in:
- Congenital Anomalies, 2021, v. 61, n. 5, p. 193, doi. 10.1111/cga.12431
- Publication type:
- Article
8
Association between maternal smoking history and congenital anomalies in children: Results from the Japan Environment and Children's Study.
- Published in:
- Congenital Anomalies, 2021, v. 61, n. 5, p. 159, doi. 10.1111/cga.12430
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- Publication type:
- Article
9
MTHFR C677T and A1298C variants in Mexican Mestizo infants with neural tube defects from Western Mexico.
- Published in:
- Congenital Anomalies, 2021, v. 61, n. 5, p. 188, doi. 10.1111/cga.12429
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- Publication type:
- Article
10
Craniofacial microsomia: Reflections on diagnosis and severity assessment based on a series of cases.
- Published in:
- Congenital Anomalies, 2021, v. 61, n. 5, p. 148, doi. 10.1111/cga.12422
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- Publication type:
- Article
11
L‐NAME, a nitric oxide synthase inhibitor, increases the protein expression of both executioner and inhibitor of apoptosis in the placental bed of mid‐to‐late pregnant rats.
- Published in:
- Congenital Anomalies, 2021, v. 61, n. 5, p. 183, doi. 10.1111/cga.12420
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- Publication type:
- Article