Found: 3
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Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 2, p. 366, doi. 10.1093/brain/awt328
- By:
- Publication type:
- Article
Expanding the genotype-phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysis.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 2953, doi. 10.1002/ajmg.a.35886
- By:
- Publication type:
- Article