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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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A novel MERTK deletion is a common founder mutation in the Faroe Islands and is...
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Carnitine levels in 26,462 individuals from the nationwide screening program for...
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Erratum to: Carnitine levels in 26,462 individuals from the nationwide screening...
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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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Increased risk of sudden death in untreated primary carnitine deficiency
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Increased risk of sudden death in untreated primary carnitine deficiency
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A Faroese founder variant in TBCD causes early onset, progressive encephalopathy...
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A Faroese founder variant in TBCD causes early onset, progressive encephalopathy...
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A Faroese founder variant in TBCD causes early onset, progressive encephalopathy...
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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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Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Gree...
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Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Gree...
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Biochemical screening of 504.049 newborns in Denmark, the Faroe Islands and Gree...
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Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1 :phenotype...
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