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A novel MERTK deletion is a common founder mutation in the Faroe Islands and is...
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Erratum to: Carnitine levels in 26,462 individuals from the nationwide screening...
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Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy
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Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy
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Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1 :phenotype...
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Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SU...
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Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SU...
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A novel RNASEH2B splice site mutation responsible for Aicardi–Goutieres syndrome...
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Carnitine levels in 26,462 individuals from the nationwide screening program for...
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Carnitine levels in 26,462 individuals from the nationwide screening program for...
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Article in Journal/Newspaper
7
Text
3
Author
Duno, Morten
Ostergaard, Elsebet
7
Batbayli, Mustafa
5
Janzen, Nils
3
Køber, Lars
3
Rasmussen, Jan
3
Steuerwald, Ulrike
3
Vilhelmsen, Kaj
3
Wibrand, Flemming
3
Born, Alfred Peter
2
Christensen, Ernst
2
Faeroe, Oddmar
2
Gislason, Hannes
2
Hansen, Flemming J.
2
Larsen, Pernille L.
2
Lund, Allan M.
2
Nielsen, Olav W.
2
Schwartz, Marianne
2
Sorensen, Nicolina
2
Thorgrimsson, Sigurdur
2
Vissing, John
2
Amartino, Hernan
1
Bertini, Enrico
1
Bianchi, Marzia
1
Buhas, Daniela
1
Burlina, Alberto
1
Carrozzo, Rosalba
1
Cordelli, Duccio M
1
Darin, Niklas
1
Dionisi-Vici, Carlo
1
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Topic
Adolescent
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Adult
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Child
2
Clinical genetics
2
Female
2
Genotype
2
Humans
2
Infant
2
Male
2
Newborn
2
Ophthalmology
2
Preschool
2
Young Adult
2
80 and over
1
Aged
1
Amino Acid Metabolism
1
Amino Acid Sequence
1
Article
1
Cardiomyopathies
1
Carnitine
1
Codon
1
DNA
1
DNA Mutational Analysis
1
Denmark
1
Dried Blood Spot Testing
1
General Medicine
1
Genetic Testing
1
Genetics
1
Genetics (clinical)
1
Hyperammonemia
1
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Content Provider
HighWire Press (Stanford University)
2
University of Copenhagen: Research
2
Wiley Online Library (via Crossref)
2
Archive ouverte HAL (Hyper Article en Ligne, CCSD - Centre pour la Communication Scientifique Directe)
1
PubMed Central (PMC)
1
Université de Nantes: HAL-UNIV-NANTES
1
Wiley Online Library
1
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Geographic location
Faroe Islands
9
Krebs
2
Language
English
10
Open Polar Keyword
Faroe Islands
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