Found: 10
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Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients.
- Published in:
- Human Genetics, 2000, v. 106, n. 2, p. 194, doi. 10.1007/s004390051028
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- Publication type:
- Article
Using Transcription Modules to Identify Expression Clusters Perturbed in Williams-Beuren Syndrome.
- Published in:
- PLoS Computational Biology, 2011, v. 7, n. 1, p. 1, doi. 10.1371/journal.pcbi.1001054
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- Publication type:
- Article
Leukodystrophy with a cerebellar cystic aspect and intracranial atherosclerosis: an atypical presentation of cerebrotendinous xanthomatosis.
- Published in:
- 2012
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- Publication type:
- Letter
Effect of agropesticides use on male reproductive function: A study on farmers in Djutitsa (Cameroon).
- Published in:
- Environmental Toxicology, 2012, v. 27, n. 7, p. 423, doi. 10.1002/tox.20656
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- Publication type:
- Article
The clinical presentation of Marfan syndrome is modulated by expression of wild-type FBN1 allele.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 10, p. 2764, doi. 10.1093/hmg/ddv037
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- Publication type:
- Article
Cerebral dysgenesis does not exclude OFD I syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 2, p. 455, doi. 10.1002/ajmg.a.33812
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- Publication type:
- Article
Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease.
- Published in:
- 2001
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- Publication type:
- journal article
The molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in French families; report of two novel mutations.
- Published in:
- Human Mutation, 1998, v. 11, p. S88, doi. 10.1002/humu.1380110130
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- Publication type:
- Article
Two novel mutations (K384E and L539S) in the C-terminal moiety of the cystathionine β-synthase protein in two French pyridoxine-responsive homocystinuria patients.
- Published in:
- Human Mutation, 1997, v. 9, n. 1, p. 81, doi. 10.1002/(SICI)1098-1004(1997)9:1<81::AID-HUMU18>3.0.CO;2-L
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- Publication type:
- Article
Cloning and Characterization of Human Very-Long-Chain Acyl-CoA Dehydrogenase cDNA, Chromosomal Assignment of the Gene and Identification in Four Patients of Nine Different Mutations Within the VLCAD Gene.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 4, p. 461, doi. 10.1093/hmg/5.4.461
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- Publication type:
- Article