Works matching IS 10597794 AND DT 2009 AND VI 30 AND IP 5
Results: 27
Lafora progressive myoclonus epilepsy: A meta-analysis of reported mutations in the first decade following the discovery of the EPM2A and NHLRC1 genes.
- Published in:
- 2009
- By:
- Publication type:
- Other
Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics.
- Published in:
- Human Mutation, 2009, v. 30, n. 5, p. 757, doi. 10.1002/humu.20936
- By:
- Publication type:
- Article
Clinical Genetics & Human Genome Variation: The 2008 Human Genome Variation Society Scientific Meeting.
- Published in:
- Human Mutation, 2009, v. 30, n. 5, p. 852, doi. 10.1002/humu.20987
- By:
- Publication type:
- Article
Identification and characterization of novel collagen VI non-canonical splicing mutations causing ullrich congenital muscular dystrophy.
- Published in:
- Human Mutation, 2009, v. 30, n. 5, p. E662, doi. 10.1002/humu.21022
- By:
- Publication type:
- Article
GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype.
- Published in:
- 2009
- By:
- Publication type:
- Other
Disease-causing mutations improving the branch site and polypyrimidine tract: Pseudoexon activation of LINE-2 and antisense Alu lacking the poly(T)-tail.
- Published in:
- Human Mutation, 2009, v. 30, n. 5, p. 823, doi. 10.1002/humu.20969
- By:
- Publication type:
- Article
Functional analysis of three splicing mutations identified in the PMM2 gene: Toward a new therapy for congenital disorder of glycosylation type Ia.
- Published in:
- Human Mutation, 2009, v. 30, n. 5, p. 795, doi. 10.1002/humu.20960
- By:
- Publication type:
- Article
Identification and functional analysis of novel variants of the human melanocortin 1 receptor found in melanoma patients.
- Published in:
- Human Mutation, 2009, v. 30, n. 5, p. 811, doi. 10.1002/humu.20971
- By:
- Publication type:
- Article
Genetic and Epigenetic Analysis of Recurrent Hydatidiform Mole.
- Published in:
- Human Mutation, 2009, v. 30, n. 5, p. E629, doi. 10.1002/humu.20993
- By:
- Publication type:
- Article
Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian Sibship.
- Published in:
- Human Mutation, 2009, v. 30, n. 5, p. E651, doi. 10.1002/humu.21010
- By:
- Publication type:
- Article
Copy number variation at the FCGR locus includes FCGR3A, FCGR2C and FCGR3B but not FCGR2A and FCGR2B.
- Published in:
- Human Mutation, 2009, v. 30, n. 5, p. E640, doi. 10.1002/humu.20997
- By:
- Publication type:
- Article
Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: A clinical, molecular, and functional study.
- Published in:
- Human Mutation, 2009, v. 30, n. 5, p. 741, doi. 10.1002/humu.20930
- By:
- Publication type:
- Article
Cytokines as genetic modifiers in K5<sup>-/-</sup> mice and in human epidermolysis bullosa simplex.
- Published in:
- Human Mutation, 2009, v. 30, n. 5, p. 832, doi. 10.1002/humu.20981
- By:
- Publication type:
- Article
PORCN mutations in focal dermal hypoplasia: coping with lethality.
- Published in:
- Human Mutation, 2009, v. 30, n. 5, p. E618, doi. 10.1002/humu.20992
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- Publication type:
- Article
Novel mutations in 3-phosphoglycerate dehydrogenase ( PHGDH) are distributed throughout the protein and result in altered enzyme kinetics.
- Published in:
- Human Mutation, 2009, v. 30, n. 5, p. 749, doi. 10.1002/humu.20934
- By:
- Publication type:
- Article
Functional properties of missense variants of human tryptophan hydroxylase 2.
- Published in:
- Human Mutation, 2009, v. 30, n. 5, p. 787, doi. 10.1002/humu.20956
- By:
- Publication type:
- Article
Pathogenic or not? And if so, then how? Studying the effects of missense mutations using bioinformatics methods.
- Published in:
- Human Mutation, 2009, v. 30, n. 5, p. 703, doi. 10.1002/humu.20938
- By:
- Publication type:
- Article
Is That a Pathogenic Mutation, a Rare Non-pathogenic Variant, or Don't You Know?
- Published in:
- Human Mutation, 2009, v. 30, n. 5, p. vii, doi. 10.1002/humu.21035
- By:
- Publication type:
- Article
Detection of mosaic RB1 mutations in families with retinoblastoma.
- Published in:
- Human Mutation, 2009, v. 30, n. 5, p. 842, doi. 10.1002/humu.20940
- By:
- Publication type:
- Article
Interaction between a chromosome 10 RET enhancer and chromosome 21 in the Down syndrome-Hirschsprung disease association.
- Published in:
- Human Mutation, 2009, v. 30, n. 5, p. 771, doi. 10.1002/humu.20944
- By:
- Publication type:
- Article
Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract.
- Published in:
- Human Mutation, 2009, v. 30, n. 5, p. E603, doi. 10.1002/humu.20995
- By:
- Publication type:
- Article
Down Syndrome-Hirschsprung Linked through RET Enhancer.
- Published in:
- Human Mutation, 2009, v. 30, n. 5, p. vii, doi. 10.1002/humu.21030
- By:
- Publication type:
- Article
Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency.
- Published in:
- Human Mutation, 2009, v. 30, n. 5, p. 734, doi. 10.1002/humu.20908
- By:
- Publication type:
- Article
Alu- Alu recombination underlies the vast majority of large VHL germline deletions: Molecular characterization and genotype-phenotype correlations in VHL patients.
- Published in:
- Human Mutation, 2009, v. 30, n. 5, p. 776, doi. 10.1002/humu.20948
- By:
- Publication type:
- Article
Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia.
- Published in:
- Human Mutation, 2009, v. 30, n. 5, p. E673, doi. 10.1002/humu.21023
- By:
- Publication type:
- Article
The increased incidence of the RET p.Gly691Ser variant in French-Canadian vesicoureteric reflux patients is not replicated by a larger study in Ireland.
- Published in:
- Human Mutation, 2009, v. 30, n. 5, p. E612, doi. 10.1002/humu.21009
- By:
- Publication type:
- Article
BMP15 mutations associated with primary ovarian insufficiency cause a defective production of bioactive protein.
- Published in:
- Human Mutation, 2009, v. 30, n. 5, p. 804, doi. 10.1002/humu.20961
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- Publication type:
- Article