Works matching IS 03406717 AND DT 2022 AND VI 141 AND IP 7
Results: 8
Inherited metabolic disorders beyond the new generation sequencing era: the need for in-depth cellular and molecular phenotyping.
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- Human Genetics, 2022, v. 141, n. 7, p. 1235, doi. 10.1007/s00439-022-02467-4
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- Article
SLC10A7, an orphan member of the SLC10 family involved in congenital disorders of glycosylation.
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- Human Genetics, 2022, v. 141, n. 7, p. 1287, doi. 10.1007/s00439-021-02420-x
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- Article
Epimutation in inherited metabolic disorders: the influence of aberrant transcription in adjacent genes.
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- Human Genetics, 2022, v. 141, n. 7, p. 1309, doi. 10.1007/s00439-021-02414-9
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- Article
Lack of NKG2D in MAGT1-deficient patients is caused by hypoglycosylation.
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- Human Genetics, 2022, v. 141, n. 7, p. 1279, doi. 10.1007/s00439-021-02400-1
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- Article
Spectrum and characterization of bi-allelic variants in MMAB causing cblB-type methylmalonic aciduria.
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- Human Genetics, 2022, v. 141, n. 7, p. 1253, doi. 10.1007/s00439-021-02398-6
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- Article
How to fix a broken protein: restoring function to mutant human cystathionine β-synthase.
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- Human Genetics, 2022, v. 141, n. 7, p. 1299, doi. 10.1007/s00439-021-02386-w
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- Article
Diagnostic yield of clinical exome sequencing as a first-tier genetic test for the diagnosis of genetic disorders in pediatric patients: results from a referral center study.
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- Human Genetics, 2022, v. 141, n. 7, p. 1269, doi. 10.1007/s00439-021-02358-0
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- Article
Ocular manifestations in patients with inborn errors of intracellular cobalamin metabolism: a systematic review.
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- Human Genetics, 2022, v. 141, n. 7, p. 1239, doi. 10.1007/s00439-021-02350-8
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- Article