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How pathogenic is the p.D104N/endostatin polymorphic allele of COL18A1 in Knobloch syndrome?
- Published in:
- Human Mutation, 2005, v. 25, n. 3, p. 314, doi. 10.1002/humu.20139
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- Article
Molecular characterization of Italian nevoid basal cell carcinoma syndrome patients.
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- Human Mutation, 2005, v. 25, n. 3, p. 322, doi. 10.1002/humu.9317
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- Article
cblE Type of homocystinuria due to methionine synthase reductase deficiency: Functional correction by minigene expression.
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- Human Mutation, 2005, v. 25, n. 3, p. 239, doi. 10.1002/humu.20131
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- Article
Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases.
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- Human Mutation, 2005, v. 25, n. 3, p. 248, doi. 10.1002/humu.20142
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Meta-analysis of gross insertions causing human genetic disease: Novel mutational mechanisms and the role of replication slippage.
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- Human Mutation, 2005, v. 25, n. 3, p. 318, doi. 10.1002/humu.20150
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- Article
Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation variation.
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- Human Mutation, 2005, v. 25, n. 3, p. 278, doi. 10.1002/humu.20143
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- Article
Molecular diversity and thrombotic risk in protein S deficiency: The PROSIT study.
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- Human Mutation, 2005, v. 25, n. 3, p. 259, doi. 10.1002/humu.20136
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- Article
Role of β-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with G<sub>M1</sub>-gangliosidosis.
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- Human Mutation, 2005, v. 25, n. 3, p. 285, doi. 10.1002/humu.20147
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Large genomic rearrangements in MECP2.
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- Human Mutation, 2005, v. 25, n. 3, p. 324, doi. 10.1002/humu.9320
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- Article
Twelve novel JAG1 gene mutations in polish Alagille syndrome patients.
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- Human Mutation, 2005, v. 25, n. 3, p. 321, doi. 10.1002/humu.9313
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Novel mutations and polymorphisms in genes causing hereditary hemorrhagic telangiectasia.
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- Human Mutation, 2005, v. 25, n. 3, p. 320, doi. 10.1002/humu.9312
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- Article
Genetic association of the APP binding protein 2 gene (APBB2) with late onset Alzheimer disease.
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- Human Mutation, 2005, v. 25, n. 3, p. 270, doi. 10.1002/humu.20138
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- Article
Mutations in the MMAA Gene in Patients With the cblA Disorder of Vitamin B<sub>12</sub> Metabolism.
- Published in:
- Human Mutation, 2005, v. 25, n. 3, p. 317, doi. 10.1002/humu.20149
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- Article
Late onset N-acetylglutamate synthase deficiency caused by hypomorphic alleles.
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- Human Mutation, 2005, v. 25, n. 3, p. 293, doi. 10.1002/humu.20146
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- Article
PIK3CA mutations in advanced ovarian carcinomas.
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- Human Mutation, 2005, v. 25, n. 3, p. 322, doi. 10.1002/humu.9316
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- Article
Hepatic manifestation is associated with ALK1 in hereditary hemorrhagic telangiectasia: Identification of five novel ALK1 and one novel ENG mutations.
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- Human Mutation, 2005, v. 25, n. 3, p. 320, doi. 10.1002/humu.9311
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- Article
Genetic polymorphisms in the transforming growth factor beta-induced gene associated with BMI.
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- Human Mutation, 2005, v. 25, n. 3, p. 322, doi. 10.1002/humu.9315
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- Article
Two novel mutations of the AIRE protein affecting its homodimerization properties.
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- Human Mutation, 2005, v. 25, n. 3, p. 319, doi. 10.1002/humu.9309
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- Article
MALDI-TOF MS and TaqMan® assisted SNP genotyping of DNA isolated from formalin-fixed and paraffin-embedded tissues (FFPET).
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- Human Mutation, 2005, v. 25, n. 3, p. 232, doi. 10.1002/humu.20141
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- Article
Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD).
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- Human Mutation, 2005, v. 25, n. 3, p. 225, doi. 10.1002/humu.20145
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- Article
Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype-phenotype correlation.
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- Human Mutation, 2005, v. 25, n. 3, p. 325, doi. 10.1002/humu.9322
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- Article
Novel somatic mutations in the BRCA1 gene in sporadic breast tumors.
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- Human Mutation, 2005, v. 25, n. 3, p. 319, doi. 10.1002/humu.9308
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- Article
A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of α-ketoglutarate dehydrogenase deficiency.
- Published in:
- Human Mutation, 2005, v. 25, n. 3, p. 323, doi. 10.1002/humu.9319
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A response to Suzuki et al. 'How pathogenic is the p.D104N/endostatin polymorphic allele of COL18A1 in Knobloch syndrome?'.
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- Human Mutation, 2005, v. 25, n. 3, p. 316, doi. 10.1002/humu.20140
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- Article
Detection of α-galactosidase a mutations causing fabry disease by denaturing high performance liquid chromatography.
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- Human Mutation, 2005, v. 25, n. 3, p. 299, doi. 10.1002/humu.20144
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Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene.
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- Human Mutation, 2005, v. 25, n. 3, p. 306, doi. 10.1002/humu.20137
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- Article
Identification and characterization of five novel MAN2B1 mutations in Italian patients with alpha-mannosidosis.
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- Human Mutation, 2005, v. 25, n. 3, p. 320, doi. 10.1002/humu.9310
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- Article
Two independent retrotransposon insertions at the same site within the coding region of BTK.
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- Human Mutation, 2005, v. 25, n. 3, p. 324, doi. 10.1002/humu.9321
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- Article
Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher disease.
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- Human Mutation, 2005, v. 25, n. 3, p. 321, doi. 10.1002/humu.9314
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- Article
P gene mutations associated with oculocutaneous albinism type II (OCA2).
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- Human Mutation, 2005, v. 25, n. 3, p. 323, doi. 10.1002/humu.9318
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- Article