Found: 8
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User Acceptability of Whole Exome Reproductive Carrier Testing for Consanguineous Couples in Australia.
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- Journal of Genetic Counseling, 2019, v. 28, n. 2, p. 240, doi. 10.1007/s10897-018-0298-5
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- Article
An Inversion Affecting the GCH1 Gene as a Novel Finding in Dopa‐Responsive Dystonia.
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- Movement Disorders Clinical Practice, 2024, v. 11, n. 5, p. 582, doi. 10.1002/mdc3.14023
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- Article
Two New Families and a Literature Review of ELOVL4-Associated Spinocerebellar Ataxia Type 34.
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- Cerebellum, 2024, v. 23, n. 1, p. 268, doi. 10.1007/s12311-023-01522-8
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- Article
Atypical methylmalonic aciduria: frequency of mutations in the methylmalonyl CoA epimerase gene ( MCEE).
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- Human Mutation, 2007, v. 28, n. 10, p. 1045, doi. 10.1002/humu.9507
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- Article
Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype.
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- Human Mutation, 2006, v. 27, n. 1, p. 31, doi. 10.1002/humu.20258
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- Article
The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families.
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- Brain: A Journal of Neurology, 2010, v. 133, n. 10, p. 2952, doi. 10.1093/brain/awq232
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- Article
ACBD5‐related retinal dystrophy with leukodystrophy due to novel mutations in ACBD5 and with additional features including ovarian insufficiency.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 346, doi. 10.1002/ajmg.a.63433
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- Article
A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2246, doi. 10.1002/ajmg.a.38292
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- Article