Found: 20
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Somatic mosaicism for a PDHA1 mutation in a female with pyruvate dehydrogenase deficiency.
- Published in:
- Human Genetics, 2008, v. 124, n. 2, p. 187, doi. 10.1007/s00439-008-0538-0
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- Article
Mutations in the gene for the E1β subunit: a novel cause of pyruvate dehydrogenase deficiency.
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- Human Genetics, 2004, v. 115, n. 2, p. 123, doi. 10.1007/s00439-004-1124-8
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- Article
Pyruvate dehydrogenase E3 binding protein deficiency.
- Published in:
- Human Genetics, 2002, v. 110, n. 2, p. 187, doi. 10.1007/s00439-001-0665-3
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- Article
Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: Dihydrolipoamide acetyltransferase (E2) deficiency.
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- Annals of Neurology, 2005, v. 58, n. 2, p. 234
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- Article
Reply.
- Published in:
- Annals of Neurology, 2002, v. 51, n. 1, p. 139, doi. 10.1002/ana.10030
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- Article
A SURF1 gene mutation presenting as isolated leukodystrophy.
- Published in:
- 2001
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- journal article
Pyruvate dehydrogenase deficiency: Molecular basis for intrafamilial heterogeneity.
- Published in:
- Annals of Neurology, 1994, v. 36, n. 1, p. 83, doi. 10.1002/ana.410360116
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- Article
Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair.
- Published in:
- Human Genetics, 2019, v. 138, n. 11/12, p. 1313, doi. 10.1007/s00439-019-02075-9
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- Article
Range expansion and hybridization in Round Island petrels ( Pterodroma spp.): evidence from microsatellite genotypes.
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- Molecular Ecology, 2010, v. 19, n. 15, p. 3157, doi. 10.1111/j.1365-294X.2010.04719.x
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- Article
Hybridization and Back-Crossing in Giant Petrels (Macronectes giganteus and M. halli) at Bird Island, South Georgia, and a Summary of Hybridization in Seabirds.
- Published in:
- PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0121688
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- Article
Phylogenetic Relationships in Pterodroma Petrels Are Obscured by Recent Secondary Contact and Hybridization.
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- PLoS ONE, 2011, v. 6, n. 5, p. 1, doi. 10.1371/journal.pone.0020350
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- Article
SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome.
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- Nature Genetics, 1998, v. 20, n. 4, p. 337, doi. 10.1038/3804
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- Article
Transfection Screening for Primary Defects in the Pyruvate Dehydrogenase E1α Subunit Gene.
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- Human Molecular Genetics, 1997, v. 6, n. 8, p. 1361, doi. 10.1093/hmg/6.8.1361
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- Article
LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.
- Published in:
- 2015
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- Publication type:
- journal article
Mutations in the X-linked pyruvate dehydrogenase (E1) α subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.
- Published in:
- Human Mutation, 2000, v. 15, n. 3, p. 209, doi. 10.1002/(SICI)1098-1004(200003)15:3<209::AID-HUMU1>3.0.CO;2-K
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- Article
Arginine 302 mutations in the pyruvate dehydrogenase E1α subunit gene: Identification of further patients and in vitro demonstration of pathogenicity.
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- Human Mutation, 1998, v. 12, n. 2, p. 114, doi. 10.1002/(SICI)1098-1004(1998)12:2<114::AID-HUMU6>3.0.CO;2-#
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- Article
A novel mutation (P316L) in a female with pyruvate dehydrogenase E1α deficiency.
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- Human Mutation, 1995, v. 6, n. 3, p. 274, doi. 10.1002/humu.1380060317
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- Publication type:
- Article
Social parasitism by male-producing reproductive workers in a eusocial insect.
- Published in:
- Nature, 2004, v. 430, n. 6999, p. 557, doi. 10.1038/nature02769
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- Publication type:
- Article
SURF1 deficiency: a multi-centre natural history study.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-96
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- Article
SURF1 deficiency: a multi-centre natural history study.
- Published in:
- 2013
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- Publication type:
- journal article