| human | Q5 |
| P496 | ORCID iD | 0000-0002-8041-3205 |
| P1053 | ResearcherID | G-2604-2012 |
| P1153 | Scopus author ID | 7003476135 |
| P108 | employer | University of Oulu | Q1357517 |
| Oulu University Hospital | Q3737020 | ||
| P734 | family name | Moilanen | Q27890932 |
| Moilanen | Q27890932 | ||
| Moilanen | Q27890932 | ||
| P735 | given name | Jukka | Q920373 |
| Jukka | Q920373 | ||
| P106 | occupation | researcher | Q1650915 |
| P21 | sex or gender | male | Q6581097 |
| Q59698100 | A combination of three common inherited mitochondrial DNA polymorphisms promotes longevity in Finnish and Japanese subjects |
| Q47849981 | A homozygous I684T in GLE1 as a novel cause of arthrogryposis and motor neuron loss. |
| Q59698093 | A new family with autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS) |
| Q36277419 | A novel MTTT mutation m.15933G > A revealed in analysis of mitochondrial DNA in patients with suspected mitochondrial disease |
| Q112642481 | A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development |
| Q43146113 | Analysis of mitochondrial DNA sequences in patients with isolated or combined oxidative phosphorylation system deficiency. |
| Q34451963 | Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype |
| Q59698095 | Biogenesis of the mitochondrial respiratory chain in children with severe multiorgan disorders |
| Q41918738 | Bone marrow failure syndrome caused by homozygous frameshift mutation in the ERCC6L2 gene. |
| Q57305977 | Breast-Cancer Risk in Families With Mutations in PALB2 |
| Q34148873 | Breast-cancer risk in families with mutations in PALB2 |
| Q50195482 | CORRIGENDUM: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT. |
| Q92005489 | Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families |
| Q62844764 | Clinical and genetic characteristics of late-onset Huntington's disease |
| Q42674824 | Clinical characterization, genetic mapping and whole-genome sequence analysis of a novel autosomal recessive intellectual disability syndrome |
| Q57674894 | Contribution of rare and common variants to intellectual disability in a high-risk population sub-isolate of Northern Finland |
| Q61124603 | Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland |
| Q36442417 | De novo STX16 deletions: an infrequent cause of pseudohypoparathyroidism type Ib that should be excluded in sporadic cases |
| Q34386522 | Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population. |
| Q40838521 | Epidemiology of early-onset Parkinson's disease in Finland |
| Q34938728 | Evaluation of the need for routine clinical testing of PALB2 c.1592delT mutation in BRCA negative Northern Finnish breast cancer families |
| Q65000680 | Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies. |
| Q40331582 | Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms |
| Q50556566 | Genetic aetiology of ophthalmological manifestations in children - a focus on mitochondrial disease-related symptoms. |
| Q34641031 | Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN). |
| Q47177393 | Haplotype analysis suggest that the MLH1 c.2059C > T mutation is a Swedish founder mutation. |
| Q46738329 | Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus |
| Q28648045 | Human Chromosome Y and Haplogroups; introducing YDHS Database |
| Q48197035 | Identification of C12orf4 as a gene for autosomal recessive intellectual disability. |
| Q44475588 | Increased variation in mtDNA in patients with familial sensorineural hearing impairment |
| Q28204414 | Lineage-specific selection in human mtDNA: lack of polymorphisms in a segment of MTND5 gene in haplogroup J |
| Q47989626 | Mitochondrial DNA polymorphisms as risk factors for Parkinson's disease and Parkinson's disease dementia |
| Q59698098 | Mitochondrial DNA sequence variation and mutation rate in patients with CADASIL |
| Q59698099 | Mitochondrial DNA sequence variation and mutation rate in patients with CADASIL |
| Q34332343 | Mitochondrial DNA sequence variation in Finnish patients with matrilineal diabetes mellitus |
| Q34839861 | Mitochondrial DNA variant m.15218A > G in Finnish epilepsy patients who have maternal relatives with epilepsy, sensorineural hearing impairment or diabetes mellitus |
| Q34248701 | Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome |
| Q33883636 | Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome |
| Q55738683 | Mutations in sFRP1 or sFRP4 are not a common cause of craniotubular hyperostosis |
| Q50103500 | NHLRC2 variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA): characterisation of a novel cerebropulmonary disease. |
| Q88816792 | Neonatal Alexander Disease: Novel GFAP Mutation and Comparison to Previously Published Cases |
| Q37466323 | Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix-Saguenay, ARSACS, in a Finnish family |
| Q38952795 | Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunction. |
| Q50868152 | Novel variants in Nordic patients referred for genetic testing of telomere-related disorders. |
| Q59697927 | Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused byEP300mutations |
| Q46642834 | Phylogenetic network and physicochemical properties of nonsynonymous mutations in the protein-coding genes of human mitochondrial DNA. |
| Q90099730 | Predisposition to childhood acute lymphoblastic leukemia caused by a constitutional translocation disrupting ETV6 |
| Q50455813 | Prevalence, segregation, and phenotype of the mitochondrial DNA 3243A>G mutation in children |
| Q59566816 | Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum |
| Q59566818 | Quantifying the impact of rare and ultra-rare coding variation across the phenotypic spectrum |
| Q39922110 | Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders. |
| Q59698102 | Relative fitness of carriers of the mitochondrial DNA mutation 3243A > G |
| Q54358494 | Sequence variation in the tRNA genes of human mitochondrial DNA. |
| Q37636758 | Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot-Marie-Tooth neuropathy and a mutation in HSPB1. |
| Q40489662 | The Quality of Genetic Counseling and Connected Factors as Evaluated by Male BRCA1/2 Mutation Carriers in Finland |
| Q35080485 | The co-occurrence of mtDNA mutations on different oxidative phosphorylation subunits, not detected by haplogroup analysis, affects human longevity and is population specific |
| Q102203426 | The ethical implications of genetic testing in neurodegenerative diseases: A systematic review |
| Q39642408 | The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT. |
| Q21202849 | The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP |
| Q44793653 | WFS1 variants in Finnish patients with diabetes mellitus, sensorineural hearing impairment or optic atrophy, and in suicide victims |
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