Successful birth after preimplantation genetic testing for rare mitochondrial DNA mutation m.10197G>A.
- Published in:
- Human Genome Variation, 2025, v. 12, n. 1, p. 1, doi. 10.1038/s41439-025-00311-5
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- Publication type:
- Article
Works matching IS 2054345X AND DT 2025 AND VI 12 AND IP 1
Results: 7
1
2
Nonrecurrent 17p duplications in two patients with developmental and neurological abnormalities.
- Published in:
- Human Genome Variation, 2025, v. 12, n. 1, p. 1, doi. 10.1038/s41439-025-00310-6
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- Publication type:
- Article
3
In-frame deletion variant of ABCD1 in a sporadic case of adrenoleukodystrophy.
- Published in:
- Human Genome Variation, 2025, v. 12, n. 1, p. 1, doi. 10.1038/s41439-025-00309-z
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- Publication type:
- Article
4
High-coverage whole-genome sequencing of a Jakun individual from the "Orang Asli" Proto-Malay subtribe from Peninsular Malaysia.
- Published in:
- Human Genome Variation, 2025, v. 12, n. 1, p. 1, doi. 10.1038/s41439-024-00308-6
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- Publication type:
- Article
5
A novel UBA1 gene mutation in a patient with infantile respiratory distress syndrome.
- Published in:
- Human Genome Variation, 2025, v. 12, n. 1, p. 1, doi. 10.1038/s41439-024-00307-7
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- Publication type:
- Article
6
Clinical characteristics of the Ala21Val variant in the myelin proteolipid protein 1 (PLP1) gene associated with Pelizaeus-Merzbacher disease in a Brazilian male patient.
- Published in:
- Human Genome Variation, 2025, v. 12, n. 1, p. 1, doi. 10.1038/s41439-024-00306-8
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- Publication type:
- Article
7
Association of novel ERLIN2 gene variants with hereditary spastic paraplegia.
- Published in:
- Human Genome Variation, 2025, v. 12, n. 1, p. 1, doi. 10.1038/s41439-024-00305-9
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- Publication type:
- Article