Found: 25
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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
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- Publication type:
- Article
Human Chromosome Y and Haplogroups; introducing YDHS Database.
- Published in:
- Clinical & Translational Medicine, 2015, v. 4, n. 1, p. 1, doi. 10.1186/s40169-015-0060-7
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- Publication type:
- Article
WFS1 variants in Finnish patients with diabetes mellitus, sensorineural hearing impairment or optic atrophy, and in suicide victims.
- Published in:
- Journal of Human Genetics, 2013, v. 58, n. 8, p. 495, doi. 10.1038/jhg.2013.29
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- Publication type:
- Article
De novo STX16 deletions: an infrequent cause of pseudohypoparathyroidism type Ib that should be excluded in sporadic cases.
- Published in:
- 2012
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- Publication type:
- journal article
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
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- Publication type:
- Article
Mitochondrial DNA polymorphisms as risk factors for Parkinson’s disease and Parkinson’s disease dementia.
- Published in:
- Human Genetics, 2004, v. 115, n. 1, p. 29, doi. 10.1007/s00439-004-1123-9
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- Publication type:
- Article
Increased variation in mtDNA in patients with familial sensorineural hearing impairment.
- Published in:
- Human Genetics, 2003, v. 113, n. 3, p. 220, doi. 10.1007/s00439-003-0966-9
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- Publication type:
- Article
Hearing impairment in patients with 3243A→G mtDNA mutation: phenotype and rate of progression.
- Published in:
- Human Genetics, 2001, v. 108, n. 4, p. 284, doi. 10.1007/s004390100475
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- Publication type:
- Article
Clinical and Genetic Characteristics of Finnish Patients with Autosomal Recessive and Dominant Non-Syndromic Hearing Loss Due to Pathogenic TMC1 Variants.
- Published in:
- Journal of Clinical Medicine, 2022, v. 11, n. 7, p. 1837, doi. 10.3390/jcm11071837
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- Publication type:
- Article
Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot-Marie-Tooth neuropathy and a mutation in HSPB1.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 4, p. 522, doi. 10.1038/ejhg.2013.190
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- Publication type:
- Article
A combination of three common inherited mitochondrial DNA polymorphisms promotes longevity in Finnish and Japanese subjects.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 2, p. 166, doi. 10.1038/sj.ejhg.5201308
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- Publication type:
- Article
Relative fitness of carriers of the mitochondrial DNA mutation 3243A > G.
- Published in:
- European Journal of Human Genetics, 2001, v. 9, n. 1, p. 59, doi. 10.1038/sj.ejhg.5200550
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- Publication type:
- Article
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
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- Publication type:
- Article
Prevalence, segregation, and phenotype of the mitochondrial DNA 3243A>G mutation in children.
- Published in:
- Annals of Neurology, 2007, v. 62, n. 3, p. 278, doi. 10.1002/ana.21196
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- Publication type:
- Article
Epidemiological, clinical, and genetic characteristics of paediatric genetic white matter disorders in Northern Finland.
- Published in:
- Developmental Medicine & Child Neurology, 2021, v. 63, n. 9, p. 1066, doi. 10.1111/dmcn.14884
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- Publication type:
- Article
Lineage-Specific Selection in Human mtDNA: Lack of Polymorphisms in a Segment of MTND5 Gene in Haplogroup J.
- Published in:
- Molecular Biology & Evolution, 2003, v. 20, n. 12, p. 2132, doi. 10.1093/molbev/msg230
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- Publication type:
- Article
Phylogenetic Network and Physicochemical Properties of Nonsynonymous Mutations in the Protein-Coding Genes of Human Mitochondrial DNA.
- Published in:
- Molecular Biology & Evolution, 2003, v. 20, n. 8, p. 1195, doi. 10.1093/molbev/msg121
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- Publication type:
- Article
Haplotype analysis suggest that the MLH1 c.2059C > T mutation is a Swedish founder mutation.
- Published in:
- Familial Cancer, 2018, v. 17, n. 4, p. 531, doi. 10.1007/s10689-017-0067-x
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- Publication type:
- Article
Analysis of functional variants in mitochondrial DNA of Finnish athletes.
- Published in:
- BMC Genomics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12864-019-6171-6
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- Publication type:
- Article
Mitochondrial DNA sequence variation and mutation rate in patients with CADASIL.
- Published in:
- Neurogenetics, 2006, v. 7, n. 3, p. 185, doi. 10.1007/s10048-006-0049-x
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- Publication type:
- Article
Sequence Variation in the tRNA Genes of Human Mitochondrial DNA.
- Published in:
- Journal of Molecular Evolution, 2005, v. 60, n. 5, p. 587, doi. 10.1007/s00239-003-0202-1
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- Publication type:
- Article
The co-occurrence of mt DNA mutations on different oxidative phosphorylation subunits, not detected by haplogroup analysis, affects human longevity and is population specific.
- Published in:
- Aging Cell, 2014, v. 13, n. 3, p. 401, doi. 10.1111/acel.12186
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- Publication type:
- Article
Clinical, radiological and histopathological features of patients with familial pulmonary fibrosis.
- Published in:
- Respiratory Research, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s12931-024-02864-5
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- Publication type:
- Article
Evaluation of the need for routine clinical testing of PALB2 c.1592delT mutation in BRCA negative Northern Finnish breast cancer families.
- Published in:
- BMC Medical Genetics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2350-14-82
- By:
- Publication type:
- Article
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
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- Publication type:
- Article