Exome sequencing in the diagnosis of an atypical phenotype of infantile hyalinosis.
- Published in:
- Middle East Journal of Medical Genetics, 2015, v. 4, n. 1, p. 18, doi. 10.1097/01.MXE.0000457060.97665.02
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- Publication type:
- Article
Works matching IS 20908571 AND DT 2015 AND VI 4 AND IP 1
Results: 6
1
2
A case report of FATCO syndrome: fibular aplasia, tibial campomelia, and oligosyndactyly.
- Published in:
- Middle East Journal of Medical Genetics, 2015, v. 4, n. 1, p. 28, doi. 10.1097/01.MXE.0000456627.22542.40
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- Publication type:
- Article
3
Cytogenetics evaluation of the effect of cord blood versus adult red blood cells on chromosomal breakage in Fanconi anemia.
- Published in:
- Middle East Journal of Medical Genetics, 2015, v. 4, n. 1, p. 13, doi. 10.1097/01.MXE.0000456626.14919.1f
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- Publication type:
- Article
4
Muenke syndrome.
- Published in:
- Middle East Journal of Medical Genetics, 2015, v. 4, n. 1, p. 1, doi. 10.1097/01.MXE.0000456629.07295.8e
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- Publication type:
- Article
5
A rare case of isochromosome 10: i(10p) and i(10q).
- Published in:
- Middle East Journal of Medical Genetics, 2015, v. 4, n. 1, p. 24, doi. 10.1097/01.MXE.0000456628.99671.86
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- Publication type:
- Article
6
Mutational spectrum of COL1A1 and COL1A2 in Egyptian patients with autosomal dominant osteogenesis imperfecta with clinical severity score and genotype/phenotype correlation.
- Published in:
- Middle East Journal of Medical Genetics, 2015, v. 4, n. 1, p. 7, doi. 10.1097/01.MXE.0000457061.88602.72
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- Publication type:
- Article