Works matching IS 10597794 AND DT 2007 AND VI 28 AND IP 9
Results: 13
Large-scale population-based metabolic phenotyping of thirteen genetic polymorphisms related to one-carbon metabolism.
- Published in:
- Human Mutation, 2007, v. 28, n. 9, p. 856, doi. 10.1002/humu.20522
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- Publication type:
- Article
Novel Plexor™ SNP genotyping technology: comparisons with TaqMan<sup>®</sup> and homogenous MassEXTEND™ MALDI-TOF mass spectrometry.
- Published in:
- Human Mutation, 2007, v. 28, n. 9, p. 922, doi. 10.1002/humu.20533
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- Publication type:
- Article
The PAH gene, phenylketonuria, and a paradigm shift.
- Published in:
- 2007
- By:
- Publication type:
- Other
Functional characterization of missense variants in the creatine transporter gene ( SLC6A8): improved diagnostic application.
- Published in:
- Human Mutation, 2007, v. 28, n. 9, p. 890, doi. 10.1002/humu.20532
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- Publication type:
- Article
Increased progerin expression associated with unusual LMNA mutations causes severe progeroid syndromes.
- Published in:
- Human Mutation, 2007, v. 28, n. 9, p. 882, doi. 10.1002/humu.20536
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- Publication type:
- Article
Double de novo mutations of ELA2 in cyclic and severe congenital neutropenia.
- Published in:
- Human Mutation, 2007, v. 28, n. 9, p. 874, doi. 10.1002/humu.20529
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- Publication type:
- Article
The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.
- Published in:
- Human Mutation, 2007, v. 28, n. 9, p. 928, doi. 10.1002/humu.9505
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- Publication type:
- Article
Mutational analysis of 105 mucopolysaccharidosis type VI patients.
- Published in:
- Human Mutation, 2007, v. 28, n. 9, p. 897, doi. 10.1002/humu.20534
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- Publication type:
- Article
Type 1 Gaucher disease: null and hypomorphic novel chitotriosidase mutations-implications for diagnosis and therapeutic monitoring.
- Published in:
- Human Mutation, 2007, v. 28, n. 9, p. 866, doi. 10.1002/humu.20524
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- Publication type:
- Article
Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiency.
- Published in:
- Human Mutation, 2007, v. 28, n. 9, p. 904, doi. 10.1002/humu.20535
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- Publication type:
- Article
Determination of haplotypes from single DNA molecules: a method for single-molecule barcoding.
- Published in:
- Human Mutation, 2007, v. 28, n. 9, p. 913, doi. 10.1002/humu.20528
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- Publication type:
- Article
Multiple sulfatase deficiency is due to hypomorphic mutations of the SUMF1 gene.
- Published in:
- Human Mutation, 2007, v. 28, n. 9, p. 928, doi. 10.1002/humu.9504
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- Publication type:
- Article
Progranulin null mutations in both sporadic and familial frontotemporal dementia.
- Published in:
- Human Mutation, 2007, v. 28, n. 9, p. 846, doi. 10.1002/humu.20520
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- Publication type:
- Article