Works matching IS 10597794 AND DT 2009 AND VI 30 AND IP 4
Results: 33
Genotype and haplotype analysis of cell cycle genes in sporadic colorectal cancer in the Czech Republic.
- Published in:
- Human Mutation, 2009, v. 30, n. 4, p. 661, doi. 10.1002/humu.20931
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- Publication type:
- Article
The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism.
- Published in:
- Human Mutation, 2009, v. 30, n. 4, p. E541, doi. 10.1002/humu.20982
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- Article
DMD exon 1 truncating point mutations: Amelioration of phenotype by alternative translation initiation in exon 6.
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- Human Mutation, 2009, v. 30, n. 4, p. 633, doi. 10.1002/humu.20913
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- Article
Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome.
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- Human Mutation, 2009, v. 30, n. 4, p. 669, doi. 10.1002/humu.20935
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- Article
Systematic evaluation of the effect of common SNPs on pre-mRNA splicing.
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- Human Mutation, 2009, v. 30, n. 4, p. 625, doi. 10.1002/humu.20906
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- Article
Analysis of inherited genetic variations at the UGT1 locus in the French-Canadian population.
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- Human Mutation, 2009, v. 30, n. 4, p. 677, doi. 10.1002/humu.20946
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- Article
Systemic hyalinosis mutations in the CMG2 ectodomain leading to loss of function through retention in the endoplasmic reticulum.
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- Human Mutation, 2009, v. 30, n. 4, p. 583, doi. 10.1002/humu.20872
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- Article
Multiple endocrine neoplasia type 2 RET protooncogene database: Repository of MEN2-associated RET sequence variation and reference for genotype/phenotype correlations.
- Published in:
- 2009
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- Publication type:
- Other
Partial deletion of the MAPT gene: A novel mechanism of FTDP-17.
- Published in:
- Human Mutation, 2009, v. 30, n. 4, p. E591, doi. 10.1002/humu.20979
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- Article
After All, Size May Matter.
- Published in:
- Human Mutation, 2009, v. 30, n. 4, p. vii, doi. 10.1002/humu.21014
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- Article
The SAAPdb web resource: A large-scale structural analysis of mutant proteins.
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- Human Mutation, 2009, v. 30, n. 4, p. 616, doi. 10.1002/humu.20898
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- Article
Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: Summary of mutations (including 23 novel) and modeling of TGase-1.
- Published in:
- 2009
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- Publication type:
- Other
Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome).
- Published in:
- 2009
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- Publication type:
- Other
S-adenosylhomocysteine hydrolase (AHCY) deficiency: Two novel mutations with lethal outcome.
- Published in:
- Human Mutation, 2009, v. 30, n. 4, p. E555, doi. 10.1002/humu.20985
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- Publication type:
- Article
Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 ( PCSK9) gene in cholesterol metabolism and disease.
- Published in:
- 2009
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- Publication type:
- Other
Hereditary pancreatitis caused by mutation-induced misfolding of human cationic trypsinogen: A novel disease mechanism.
- Published in:
- Human Mutation, 2009, v. 30, n. 4, p. 575, doi. 10.1002/humu.20853
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- Publication type:
- Article
Data Sharing: Standards for Bioinformatic Cross-Talk.
- Published in:
- Human Mutation, 2009, v. 30, n. 4, p. vii, doi. 10.1002/humu.21013
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- Publication type:
- Article
No association between CALHM1 variation and risk of Alzheimer disease.
- Published in:
- Human Mutation, 2009, v. 30, n. 4, p. E566, doi. 10.1002/humu.20989
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- Publication type:
- Article
A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeats.
- Published in:
- Human Mutation, 2009, v. 30, n. 4, p. 641, doi. 10.1002/humu.20916
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- Publication type:
- Article
Functional characterization of ryanodine receptor (RYR1) sequence variants using a metabolic assay in immortalized B-lymphocytes.
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- Human Mutation, 2009, v. 30, n. 4, p. E575, doi. 10.1002/humu.20991
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- Publication type:
- Article
Penetrance of pulmonary arterial hypertension is modulated by the expression of normal BMPR2 allele.
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- Human Mutation, 2009, v. 30, n. 4, p. 649, doi. 10.1002/humu.20922
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- Publication type:
- Article
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum.
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- Human Mutation, 2009, v. 30, n. 4, p. 695, doi. 10.1002/humu.20955
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- Article
Sharing data between LSDBs and central repositories.
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- Human Mutation, 2009, v. 30, n. 4, p. 493, doi. 10.1002/humu.20977
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- Article
Novel KCNE3 mutation reduces repolarizing potassium current and associated with long QT syndrome.
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- Human Mutation, 2009, v. 30, n. 4, p. 557, doi. 10.1002/humu.20834
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- Article
Functional, structural, and genetic evaluation of 20 CDKN2A germ line mutations identified in melanoma-prone families or patients.
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- Human Mutation, 2009, v. 30, n. 4, p. 564, doi. 10.1002/humu.20845
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- Publication type:
- Article
Increasing the number of diagnostic mutations in malignant hyperthermia.
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- Human Mutation, 2009, v. 30, n. 4, p. 590, doi. 10.1002/humu.20878
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- Publication type:
- Article
High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis.
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- Human Mutation, 2009, v. 30, n. 4, p. 688, doi. 10.1002/humu.20950
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- Article
No association between CALHM1 and risk for Alzheimer dementia in a Belgian population.
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- Human Mutation, 2009, v. 30, n. 4, p. E570, doi. 10.1002/humu.20990
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- Article
Planning the Human Variome Project: The Spain report.
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- Human Mutation, 2009, v. 30, n. 4, p. 496, doi. 10.1002/humu.20972
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- Article
LGI1 mutations in autosomal dominant and sporadic lateral temporal epilepsy.
- Published in:
- 2009
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- Publication type:
- Other
Hypo-Functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: Genotype-phenotype correlation or coincidental polymorphisms?
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- Human Mutation, 2009, v. 30, n. 4, p. 599, doi. 10.1002/humu.20884
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- Publication type:
- Article
Interaction between PHOX2B and CREBBP mediates synergistic activation: Mechanistic implications of PHOX2B mutants.
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- Human Mutation, 2009, v. 30, n. 4, p. 655, doi. 10.1002/humu.20929
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- Article
Association of polymorphisms in four bilirubin metabolism genes with serum bilirubin in three Asian populations.
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- Human Mutation, 2009, v. 30, n. 4, p. 609, doi. 10.1002/humu.20895
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- Publication type:
- Article