Found: 17
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CASRdb: calcium-sensing receptor locus-specific database for mutations causing familial (benign) hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia.
- Published in:
- Human Mutation, 2004, v. 24, n. 2, p. 107, doi. 10.1002/humu.20067
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- Article
OrthoDisease: A database of human disease orthologs.
- Published in:
- Human Mutation, 2004, v. 24, n. 2, p. 112, doi. 10.1002/humu.20068
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- Article
The role of common single-nucleotide polymorphisms on exon 9 and exon 12 skipping in nonmutated CFTR Alleles.
- Published in:
- Human Mutation, 2004, v. 24, n. 2, p. 120, doi. 10.1002/humu.20064
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- Article
Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40°C: Implications for other inborn errors of metabolism.
- Published in:
- Human Mutation, 2004, v. 24, n. 2, p. 130, doi. 10.1002/humu.20062
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- Article
Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome.
- Published in:
- Human Mutation, 2004, v. 24, n. 2, p. 140, doi. 10.1002/humu.20070
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- Article
Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients.
- Published in:
- Human Mutation, 2004, v. 24, n. 2, p. 147, doi. 10.1002/humu.20071
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- Article
A gel-free SNP genotyping method: bioluminometric assay coupled with modified primer extension reactions (BAMPER) directly from double-stranded PCR products.
- Published in:
- Human Mutation, 2004, v. 24, n. 2, p. 155, doi. 10.1002/humu.20052
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- Article
Improved testing for CMT1A and HNPP using multiplex ligation-dependent probe amplification (MLPA) with rapid DNA preparations: Comparison with the interphase FISH Method.
- Published in:
- Human Mutation, 2004, v. 24, n. 2, p. 164, doi. 10.1002/humu.20072
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- Article
Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication.
- Published in:
- Human Mutation, 2004, v. 24, n. 2, p. 172, doi. 10.1002/humu.20065
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- Article
Bayesian approach to discovering pathogenic SNPs in conserved protein domains.
- Published in:
- Human Mutation, 2004, v. 24, n. 2, p. 178, doi. 10.1002/humu.20063
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- Article
Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients.
- Published in:
- Human Mutation, 2004, v. 24, n. 2, p. 185, doi. 10.1002/humu.9261
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- Article
USH2A Mutation analysis in 70 Dutch families with Usher syndrome type II.
- Published in:
- Human Mutation, 2004, v. 24, n. 2, p. 185, doi. 10.1002/humu.9259
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- Article
Characterization of three myotonia-associated mutations of the CLCN1 chloride channel gene via heterologous expression.
- Published in:
- Human Mutation, 2004, v. 24, n. 2, p. 185, doi. 10.1002/humu.9260
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- Article
Sjögren-Larsson syndrome: Seven novel mutations in the fatty aldehyde dehydrogenase gene ALDH3A2.
- Published in:
- Human Mutation, 2004, v. 24, n. 2, p. 186, doi. 10.1002/humu.9262
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- Article
Acid sphingomyelinase: Identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codon.
- Published in:
- Human Mutation, 2004, v. 24, n. 2, p. 186, doi. 10.1002/humu.9263
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- Article
Molecular characterization of familial hypercholesterolemia in Spain: Identification of 39 novel and 77 recurrent mutations in LDLR.
- Published in:
- Human Mutation, 2004, v. 24, n. 2, p. 187, doi. 10.1002/humu.9264
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- Article
Mucopolysaccharidosis IVA (Morquio A): Identification of novel common mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene in Italian patients.
- Published in:
- Human Mutation, 2004, v. 24, n. 2, p. 187, doi. 10.1002/humu.9265
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- Article