Works matching IS 10184813 AND DT 1999 AND VI 7 AND IP 3
Results: 19
Nucleotide changes in the γ-globin promoter and the (AT)<sub>x</sub>N<sub>y</sub>(AT)<sub>z</sub> polymorphic sequence of βLCRHS-2 region associated with altered levels of HbF.
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- European Journal of Human Genetics, 1999, v. 7, n. 3, p. 345, doi. 10.1038/sj.ejhg.5200284
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SMN protein analysis in fibroblast, amniocyte and CVS cultures from spinal muscular atrophy patients and its relevance for diagnosis.
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- European Journal of Human Genetics, 1999, v. 7, n. 3, p. 301, doi. 10.1038/sj.ejhg.5200286
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Rapid and efficient ATM mutation detection by fluorescent chemical cleavage of mismatch: identification of four novel mutations.
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- European Journal of Human Genetics, 1999, v. 7, n. 3, p. 310, doi. 10.1038/sj.ejhg.5200288
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Novel PTEN mutations in patients with Cowden disease: absence of clear genotype–phenotype correlations.
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- European Journal of Human Genetics, 1999, v. 7, n. 3, p. 267, doi. 10.1038/sj.ejhg.5200289
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Donor splice site mutation in keratin 5 causes in-frame removal of 22 amino acids of H1 and 1A rod domains in Dowling-Meara epidermolysis bullosa simplex.
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- European Journal of Human Genetics, 1999, v. 7, n. 3, p. 293, doi. 10.1038/sj.ejhg.5200292
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mtDNA haplogroup J: a contributing factor of optic neuritis.
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- European Journal of Human Genetics, 1999, v. 7, n. 3, p. 404, doi. 10.1038/sj.ejhg.5200293
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Dopamine D4 receptor polymorphism and idiopathic Parkinson's disease.
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- European Journal of Human Genetics, 1999, v. 7, n. 3, p. 397, doi. 10.1038/sj.ejhg.5200297
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(CAG)nCAA and GGN repeats in the human androgen receptor gene are not associated with prostate cancer in a French–German population.
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- European Journal of Human Genetics, 1999, v. 7, n. 3, p. 357, doi. 10.1038/sj.ejhg.5200298
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Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland.
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- European Journal of Human Genetics, 1999, v. 7, n. 3, p. 368, doi. 10.1038/sj.ejhg.5200300
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Linkage analysis of multiple sclerosis with candidate region markers in Sardinian and Continental Italian families.
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- European Journal of Human Genetics, 1999, v. 7, n. 3, p. 377, doi. 10.1038/sj.ejhg.5200301
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Refinement of the RP17 locus for autosomal dominant retinitis pigmentosa, construction of a YAC contig and investigation of the candidate gene retinal fascin.
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- European Journal of Human Genetics, 1999, v. 7, n. 3, p. 332, doi. 10.1038/sj.ejhg.5200302
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Phenotype–genotype correlation in familial Mediterranean fever: evidence for an association between Met694Val and amyloidosis.
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- European Journal of Human Genetics, 1999, v. 7, n. 3, p. 287, doi. 10.1038/sj.ejhg.5200303
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Molecular characterisation of the defective α1-antitrypsin alleles PI Mwürzburg (Pro369Ser), Mheerlen (Pro369Leu), and Q0lisbon (Thr68lle).
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- European Journal of Human Genetics, 1999, v. 7, n. 3, p. 321, doi. 10.1038/sj.ejhg.5200304
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Molecular genetic analysis of human folate receptors in neural tube defects.
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- European Journal of Human Genetics, 1999, v. 7, n. 3, p. 393, doi. 10.1038/sj.ejhg.5200305
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A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23–24.2.
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- European Journal of Human Genetics, 1999, v. 7, n. 3, p. 363, doi. 10.1038/sj.ejhg.5200307
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Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype.
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- European Journal of Human Genetics, 1999, v. 7, n. 3, p. 274
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Cytogenetic analysis of 477 psoriatics revealed an increased frequency of aberrations involving chromosome region 11q.
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- European Journal of Human Genetics, 1999, v. 7, n. 3, p. 339
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Genetic and phenotypic aspects of phenylalanine hydroxylase deficiency in Spain: molecular survey by regions.
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- European Journal of Human Genetics, 1999, v. 7, n. 3, p. 386, doi. 10.1038/sj.ejhg.5200312
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Apolipoprotein E and herpes virus diseases: herpes simplex keratitis.
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- European Journal of Human Genetics, 1999, v. 7, n. 3, p. 401, doi. 10.1038/sj.ejhg.5200313
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