Found: 23
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Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis.
- Published in:
- Human Mutation, 2005, v. 26, n. 4, p. 351, doi. 10.1002/humu.20236
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- Publication type:
- Article
Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin.
- Published in:
- Human Mutation, 2005, v. 26, n. 4, p. 395, doi. 10.1002/humu.9373
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- Publication type:
- Article
Whole genome SNP arrays using DNA derived from formalin-fixed, paraffin-embedded ovarian tumor tissue.
- Published in:
- Human Mutation, 2005, v. 26, n. 4, p. 384, doi. 10.1002/humu.20220
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- Publication type:
- Article
Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase α/β subunits in Korean patients with mucolipidosis type II or type IIIA.
- Published in:
- Human Mutation, 2005, v. 26, n. 4, p. 308, doi. 10.1002/humu.20205
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- Publication type:
- Article
Intrachromosomal serial replication slippage in trans gives rise to diverse genomic rearrangements involving inversions.
- Published in:
- Human Mutation, 2005, v. 26, n. 4, p. 362, doi. 10.1002/humu.20230
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- Publication type:
- Article
Mutations of APC and MYH in unrelated Italian patients with adenomatous polyposis coli.
- Published in:
- Human Mutation, 2005, v. 26, n. 4, p. 394, doi. 10.1002/humu.9370
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- Publication type:
- Article
Novel sequence variants in the TMC1 gene in Pakistani families with autosomal recessive hearing impairment.
- Published in:
- Human Mutation, 2005, v. 26, n. 4, p. 396, doi. 10.1002/humu.9374
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- Publication type:
- Article
Increased risk of idiopathic chronic pancreatitis in cystic fibrosis carriers.
- Published in:
- Human Mutation, 2005, v. 26, n. 4, p. 303, doi. 10.1002/humu.20232
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- Publication type:
- Article
Rare missense variants in ATP1A2 in families with clustering of common forms of migraine.
- Published in:
- Human Mutation, 2005, v. 26, n. 4, p. 315, doi. 10.1002/humu.20229
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- Publication type:
- Article
Persistent mild hypothyroidism associated with novel sequence variants of the DUOX2 gene in two siblings.
- Published in:
- Human Mutation, 2005, v. 26, n. 4, p. 395, doi. 10.1002/humu.9372
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- Publication type:
- Article
Thromboxane synthase ( TBXAS1) polymorphisms in African-American and Caucasian populations: evidence for selective pressure.
- Published in:
- Human Mutation, 2005, v. 26, n. 4, p. 394, doi. 10.1002/humu.9371
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- Publication type:
- Article
Lafora progressive myoclonus epilepsy mutation database-EPM2A and NHLRC1 (EMP2B) genes.
- Published in:
- Human Mutation, 2005, v. 26, n. 4, p. 397, doi. 10.1002/humu.9376
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- Publication type:
- Article
Functional analysis of SAND mutations in AIRE supports dominant inheritance of the G228W mutation.
- Published in:
- Human Mutation, 2005, v. 26, n. 4, p. 322, doi. 10.1002/humu.20224
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- Publication type:
- Article
Palindromic AT-rich repeat in the NF1 gene is hypervariable in humans and evolutionarily conserved in primates.
- Published in:
- Human Mutation, 2005, v. 26, n. 4, p. 332, doi. 10.1002/humu.20228
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- Publication type:
- Article
Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/ TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations.
- Published in:
- Human Mutation, 2005, v. 26, n. 4, p. 374, doi. 10.1002/humu.20227
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- Publication type:
- Article
Linear allele-specific long-range amplification: a novel method of long-range molecular haplotyping.
- Published in:
- Human Mutation, 2005, v. 26, n. 4, p. 393, doi. 10.1002/humu.9369
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- Publication type:
- Article
The human TBX5 gene mutation database.
- Published in:
- Human Mutation, 2005, v. 26, n. 4, p. 397, doi. 10.1002/humu.9375
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- Publication type:
- Article
A protein-truncating mutation in CYP17A1 in three sisters with early-onset breast cancer.
- Published in:
- Human Mutation, 2005, v. 26, n. 4, p. 298, doi. 10.1002/humu.20237
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- Publication type:
- Article
Mutations in the human LKB1/STK11 gene.
- Published in:
- 2005
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- Publication type:
- Other
Mutations in the holocarboxylase synthetase gene HLCS.
- Published in:
- 2005
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- Publication type:
- Other
GATA1 mutations in myeloproliferative disorders: nomenclature standardization and review of the literature.
- Published in:
- Human Mutation, 2005, v. 26, n. 4, p. 390, doi. 10.1002/humu.20233
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- Publication type:
- Article
Genetic variation, nucleotide diversity, and linkage disequilibrium in seven telomere stability genes suggest that these genes may be under constraint.
- Published in:
- Human Mutation, 2005, v. 26, n. 4, p. 343, doi. 10.1002/humu.20226
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- Publication type:
- Article
A novel functionally deficient MYH variant in individuals with colorectal adenomatous polyposis.
- Published in:
- Human Mutation, 2005, v. 26, n. 4, p. 393, doi. 10.1002/humu.9368
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- Publication type:
- Article