Works matching IS 03406717 AND DT 2001 AND VI 108 AND IP 4
Results: 12
Hearing impairment in patients with 3243A→G mtDNA mutation: phenotype and rate of progression.
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- Human Genetics, 2001, v. 108, n. 4, p. 284, doi. 10.1007/s004390100475
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- Article
Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high-performance liquid chromatography (D-HPLC): major implications for genetic counselling.
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- Human Genetics, 2001, v. 108, n. 4, p. 290, doi. 10.1007/s004390100490
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Characterisation of novel point mutations in the survival motor neuron gene SMN, in three patients with SMA.
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- Human Genetics, 2001, v. 108, n. 4, p. 356, doi. 10.1007/s004390100497
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Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4).
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- Human Genetics, 2001, v. 108, n. 4, p. 346, doi. 10.1007/s004390100493
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Human Gene Mutations.
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- Human Genetics, 2001, v. 108, n. 4, p. 358, doi. 10.1007/PL00008718
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- Article
Linkage of prostate cancer susceptibility loci to chromosome 1.
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- Human Genetics, 2001, v. 108, n. 4, p. 335, doi. 10.1007/s004390100488
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Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis.
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- Human Genetics, 2001, v. 108, n. 4, p. 299, doi. 10.1007/s004390100494
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Haplotype analysis of genomic polymorphisms in and around the myotonic dystrophy locus in diverse populations of India.
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- Human Genetics, 2001, v. 108, n. 4, p. 310, doi. 10.1007/s004390100479
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- Article
Segregation of a mutation in CNGB1 encoding the β-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa.
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- Human Genetics, 2001, v. 108, n. 4, p. 328, doi. 10.1007/s004390100496
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Identification of a new point mutation in the human xanthine dehydrogenase gene responsible for a case of classical type I xanthinuria.
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- Human Genetics, 2001, v. 108, n. 4, p. 279, doi. 10.1007/s004390100477
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- Article
Phenotypic effects of balanced X-autosome translocations in females: a retrospective survey of 104 cases reported from UK laboratories.
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- Human Genetics, 2001, v. 108, n. 4, p. 318, doi. 10.1007/s004390100465
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- Article
Mutation analysis of the origin recognition complex subunit 5 (ORC5L) gene in adult patients with myeloid leukemias exhibiting deletions of chromosome band 7q22.
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- Human Genetics, 2001, v. 108, n. 4, p. 304, doi. 10.1007/s004390100498
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- Article