Works matching IS 10184813 AND DT 1998 AND VI 6 AND IP 3
Results: 14
A complete protein truncation test for BRCA1 and BRCA2.
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- European Journal of Human Genetics, 1998, v. 6, n. 3, p. 226, doi. 10.1038/sj.ejhg.5200172
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- Article
Detection of an insertion deletion of region 8q13-q21.2 in a patient with Duane syndrome: implications for mapping and cloning a Duane gene.
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- European Journal of Human Genetics, 1998, v. 6, n. 3, p. 187, doi. 10.1038/sj.ejhg.5200173
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A sensorineural progressive autosomal recessive form of isolated deafness, DFNB13, maps to chromosome 7q34-q36.
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- European Journal of Human Genetics, 1998, v. 6, n. 3, p. 245, doi. 10.1038/sj.ejhg.5200177
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Cytogenetic and molecular study of four couples with multiple trisomy 21 pregnancies.
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- European Journal of Human Genetics, 1998, v. 6, n. 3, p. 207, doi. 10.1038/sj.ejhg.5200178
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MEHMO (mental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly, obesity), a novel syndrome: assignment of disease locus to Xp21.1–p22.13.
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- European Journal of Human Genetics, 1998, v. 6, n. 3, p. 201
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- Article
Identical mutation in 55% of the ATM alleles in 11 Norwegian AT families: evidence for a founder effect.
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- European Journal of Human Genetics, 1998, v. 6, n. 3, p. 235, doi. 10.1038/sj.ejhg.5200181
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Identification of four novel mutations in severe methylenetetrahydrofolate reductase deficiency.
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- European Journal of Human Genetics, 1998, v. 6, n. 3, p. 257, doi. 10.1038/sj.ejhg.5200182
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Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2).
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- European Journal of Human Genetics, 1998, v. 6, n. 3, p. 213, doi. 10.1038/sj.ejhg.5200183
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Linkage of AD HSP and cognitive impairment to chromosome 2p: haplotype and phenotype analysis indicates variable expression and low or delayed penetrance.
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- European Journal of Human Genetics, 1998, v. 6, n. 3, p. 275, doi. 10.1038/sj.ejhg.5200185
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Assignment of gene responsible for progressive pseudorheumatoid dysplasia to chromosome 6 and examination of COL10A1 as candidate gene.
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- European Journal of Human Genetics, 1998, v. 6, n. 3, p. 251, doi. 10.1038/sj.ejhg.5200187
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Integrated physical and transcript map of 5q31.3-qter.
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- European Journal of Human Genetics, 1998, v. 6, n. 3, p. 266, doi. 10.1038/sj.ejhg.5200188
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Chromosome studies in 1792 males prior to intra-cytoplasmic sperm injection: the Dutch experience.
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- European Journal of Human Genetics, 1998, v. 6, n. 3, p. 194, doi. 10.1038/sj.ejhg.5200193
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Cloning and gene structure of the rod cGMP phosphodiesterase delta subunit gene (PDED) in man and mouse.
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- European Journal of Human Genetics, 1998, v. 6, n. 3, p. 283, doi. 10.1038/sj.ejhg.5200215
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- Article
Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies.
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- European Journal of Human Genetics, 1998, v. 6, n. 3, p. 291, doi. 10.1038/sj.ejhg.5200221
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- Article