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Deficiency of mannan-binding lectin associated serine protease-2 due to missense...
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Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1 :phenotype...
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Nordic collaborative study of the BARD1 Cys557Ser allele in 3956 patients with c...
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Linkage of osteoporosis to chromosome 20p12 and association to BMP2
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A novel TEAD1 mutation is the causative allele in Sveinsson's chorioretinal atro...
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The BARD1 Cys557Ser variant and breast cancer risk in Iceland.
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Variant of TREM2 associated with the risk of Alzheimer's disease.
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Identification of low-frequency variants associated with gout and serum uric aci...
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A genome-wide association study of body mass index across early life and childho...
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Carnitine Palmitoyltransferase IA Polymorphism P479L Is Common in Greenland Inui...
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A Missense Mutation in the Vacuolar Protein Sorting 11 (VPS11) Gene Is Associate...
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Clinical characteristics and determinants of the phenotype in TMEM43 arrhythmoge...
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Population-level deficit of homozygosity unveils CPSF3 as an intellectual disabi...
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A Missense Mutation in the Vacuolar Protein Sorting 11 (VPS11) Gene Is Associate...
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Whole-exome sequencing of individuals from an isolated population implicates rar...
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A novel homozygous mutation in SUCLA2 gene identified by exome sequencing
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The lysosomal disease caused by mutant VPS33A
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Whole-exome sequencing of individuals from an isolated population implicates rar...
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The TMEM 43 Newfoundland mutation p.S358L causing ARVC-5 was imported from Europ...
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Article in Journal/Newspaper
19
Author
Kong, Augustine
5
Stefansson, Kari
5
Gulcher, Jeffrey R
3
Jonsdottir, Ingileif
3
Stefansson, Hreinn
3
Sulem, Patrick
3
Thorsteinsdottir, Unnur
3
Andreassen, Ole A
2
Bannasch, Danika L
2
Brown, C Titus
2
Dickinson, Peter J
2
Drögemüller, Cord
2
Finno, Carrie J
2
Helgason, Agnar
2
Holm, Hilma
2
Jonasdottir, Adalbjorg
2
Letko, Anna
2
Lucot, Katherine L
2
Mansour, Tamer A
2
Masson, Gisli
2
Mickelson, James R
2
Minor, Katherine M
2
Saemundsdottir, Jona
2
Aaltonen, L A
1
Abdenur, Jose
1
Agnarsson, B A
1
Als T. D.
1
Als, T D
1
Amartino, Hernan
1
Amundadottir, Laufey T
1
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Topic
Missense
Mutation
19
Humans
13
Female
11
Male
9
Polymorphism
8
DNA
7
Adult
6
Genotype
6
Iceland
6
Adolescent
5
Alleles
5
Pedigree
5
Sequence Analysis
5
Aged
4
Case-Control Studies
4
Child
4
Chromosomes
4
Gene Frequency
4
Genetic
4
Genetic Predisposition to Disease
4
Genetics
4
Haplotypes
4
Human
4
Middle Aged
4
Phenotype
4
Single Nucleotide
4
Amino Acid Sequence
3
Cohort Studies
3
DNA Mutational Analysis
3
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Content Provider
Hirsla - Landspítali University Hospital research archive
6
University of California: eScholarship
2
University of Copenhagen: Research
2
Aarhus University: Research
1
Apollo - University of Cambridge Repository
1
IRIS UNIPV (Università degli studi di Pavia)
1
Imperial College London: Spiral
1
Opin vísindi (Iceland)
1
Padua Research Archive (IRIS - Università degli Studi di Padova)
1
Sistema Sanitario Público de Andalucía (SSPA): Repositorio
1
The University of Western Ontario: Scholarship@Western
1
University of Southern Denmark Research Portal
1
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Geographic location
Faroe Islands
2
Greenland
2
Norway
2
Canada
1
Newfoundland
1
see all ...
Language
English
16
unknown
3
Open Polar Keyword
Iceland
7
Faroe Islands
4
Canis lupus
2
Greenland
2
Newfoundland
2
inuits
2
Northern Finland
1
Siberia
1
Yakuts
1
inuit
1
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