Works matching IS 10597794 AND DT 2007 AND VI 28 AND IP 2
Results: 21
Low proportion of whole exon deletions causing phenylketonuria in Denmark and Germany.
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- Human Mutation, 2007, v. 28, n. 2, p. 207, doi. 10.1002/humu.9481
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A proposed molecular diagnostic flowchart for myophosphorylase deficiency (McArdle disease) in blood samples from Spanish patients.
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- Human Mutation, 2007, v. 28, n. 2, p. 203, doi. 10.1002/humu.9474
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Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations.
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- Human Mutation, 2007, v. 28, n. 2, p. 205, doi. 10.1002/humu.9478
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Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing.
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- Human Mutation, 2007, v. 28, n. 2, p. 150, doi. 10.1002/humu.20400
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Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene.
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- Human Mutation, 2007, v. 28, n. 2, p. 183, doi. 10.1002/humu.20422
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Genotype-phenotype correlations in von Hippel-Lindau disease.
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- Human Mutation, 2007, v. 28, n. 2, p. 143, doi. 10.1002/humu.20385
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MID1 mutation screening in a large cohort of Opitz G/BBB syndrome patients: twenty-nine novel mutations identified.
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- Human Mutation, 2007, v. 28, n. 2, p. 206, doi. 10.1002/humu.9480
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Identification of seven novel germline mutations in the human E-cadherin ( CDH1) Gene.
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- Human Mutation, 2007, v. 28, n. 2, p. 203, doi. 10.1002/humu.9473
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Deletion of exon 16 of the dystrophin gene is not associated with disease.
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- Human Mutation, 2007, v. 28, n. 2, p. 205, doi. 10.1002/humu.9477
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Diverse chromosome breakage mechanisms underlie subtelomeric rearrangements, a common cause of mental retardation.
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- Human Mutation, 2007, v. 28, n. 2, p. 177, doi. 10.1002/humu.20421
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Genotype-phenotype correlations of KCNJ2 mutations in Japanese patients with Andersen-Tawil syndrome.
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- Human Mutation, 2007, v. 28, n. 2, p. 208, doi. 10.1002/humu.9483
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Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region.
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- Human Mutation, 2007, v. 28, n. 2, p. 204, doi. 10.1002/humu.9476
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Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy.
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- Human Mutation, 2007, v. 28, n. 2, p. 196, doi. 10.1002/humu.20428
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Understanding the recent evolution of the human genome: insights from human-chimpanzee genome comparisons.
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- Human Mutation, 2007, v. 28, n. 2, p. 99, doi. 10.1002/humu.20420
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Attenuation of disease phenotype through alternative translation initiation in low-penetrance retinoblastoma.
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- Human Mutation, 2007, v. 28, n. 2, p. 159, doi. 10.1002/humu.20394
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Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.
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- Human Mutation, 2007, v. 28, n. 2, p. 207, doi. 10.1002/humu.9482
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GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling.
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- Human Mutation, 2007, v. 28, n. 2, p. 204, doi. 10.1002/humu.9475
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HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update.
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- Human Mutation, 2007, v. 28, n. 2, p. 206, doi. 10.1002/humu.9479
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Detection of ultrarare somatic mutation in the human TP53 gene by bidirectional pyrophosphorolysis-activated polymerization allele-specific amplification.
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- Human Mutation, 2007, v. 28, n. 2, p. 131, doi. 10.1002/humu.20423
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A large genomic deletion in the PDHX gene caused by the retrotranspositional insertion of a full-length LINE-1 element.
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- Human Mutation, 2007, v. 28, n. 2, p. 137, doi. 10.1002/humu.20449
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A common variant located in the 3′UTR of the RET gene is associated with protection from Hirschsprung disease.
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- Human Mutation, 2007, v. 28, n. 2, p. 168, doi. 10.1002/humu.20397
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- Article