Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus.
- Published in:
- Epilepsia (Series 4), 2008, v. 49, n. 6, p. 1038, doi. 10.1111/j.1528-1167.2008.01544.x
- By:
- Publication type:
- Article
Works by Soini, Heidi
Results: 6
1
2
Mitochondrial hearing loss mutations among Finnish preterm and term-born infants.
- Published in:
- Audiology Research, 2017, v. 7, n. 2, p. 56, doi. 10.4081/audiores.2017.189
- By:
- Publication type:
- Article
3
Adult‐onset ataxia and polyneuropathy caused by mitochondrial 8993T→C mutation.
- Published in:
- Annals of Neurology, 2005, v. 58, n. 2, p. 337
- By:
- Publication type:
- Article
4
A novel MTTT mutation m.15933G > A revealed in analysis of mitochondrial DNA in patients with suspected mitochondrial disease.
- Published in:
- BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0377-8
- By:
- Publication type:
- Article
5
Mitochondrial DNA variant m.15218A > G in Finnish epilepsy patients who have maternal relatives with epilepsy, sensorineural hearing impairment or diabetes mellitus.
- Published in:
- BMC Medical Genetics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2350-14-73
- By:
- Publication type:
- Article
6
Mitochondrial DNA sequence variation in Finnish patients with matrilineal diabetes mellitus.
- Published in:
- BMC Research Notes, 2012, v. 5, n. 1, p. 350, doi. 10.1186/1756-0500-5-350
- By:
- Publication type:
- Article