Works matching IS 10184813 AND DT 1998 AND VI 6 AND IP 2
Results: 14
Germline mutational analysis of presenilin 1 and APP genes in Jewish-Israeli individuals with familial or early-onset Alzheimer disease using denaturing gradient gel electrophoresis (DGGE).
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- European Journal of Human Genetics, 1998, v. 6, n. 2, p. 176, doi. 10.1038/sj.ejhg.5200160
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- Article
Prenatal diagnosis in CDG1 families: beware of heterogeneity.
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- European Journal of Human Genetics, 1998, v. 6, n. 2, p. 99, doi. 10.1038/sj.ejhg.5200161
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- Article
Generation of a transcription map of a 1 Mbase region containing the HFE gene (6p22).
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- European Journal of Human Genetics, 1998, v. 6, n. 2, p. 105, doi. 10.1038/sj.ejhg.5200162
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- Article
Evidence against a major role of PEG1/MEST in Silver–Russell syndrome.
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- European Journal of Human Genetics, 1998, v. 6, n. 2, p. 114, doi. 10.1038/sj.ejhg.5200164
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- Article
Heterozygous mutation in the pore of potassium channel gene KvLQT1 causes an apparently normal phenotype in long QT syndrome.
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- European Journal of Human Genetics, 1998, v. 6, n. 2, p. 129, doi. 10.1038/sj.ejhg.5200165
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- Article
A novel 25 bp tandem repeat within the human trefoil peptide gene TFF2 in 21q22.3: polymorphism and mammalian evolution.
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- European Journal of Human Genetics, 1998, v. 6, n. 2, p. 121, doi. 10.1038/sj.ejhg.5200166
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BRCA2 germline mutations in Swedish breast cancer families.
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- European Journal of Human Genetics, 1998, v. 6, n. 2, p. 134, doi. 10.1038/sj.ejhg.5200167
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- Article
Isochromosomes 12p and 9p: parental origin and possible mechanisms of formation.
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- European Journal of Human Genetics, 1998, v. 6, n. 2, p. 140, doi. 10.1038/sj.ejhg.5200168
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- Article
Evaluation of CFTR gene mutation testing methods in 136 diagnostic laboratories: report of a large European external quality assessment.
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- European Journal of Human Genetics, 1998, v. 6, n. 2, p. 165, doi. 10.1038/sj.ejhg.5200195
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Comparison of conformation-sensitive gel electrophoresis and single-strand conformation polymorphism analysis for detection of mutations in the BRCA1 gene using optimized conformation analysis protocols.
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- European Journal of Human Genetics, 1998, v. 6, n. 2, p. 145, doi. 10.1038/sj.ejhg.5200171
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Screening of CFTR mutations in an isolated population: identification of carriers and patients.
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- European Journal of Human Genetics, 1998, v. 6, n. 2, p. 181, doi. 10.1038/sj.ejhg.5200174
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- Article
Lower frequency of Gaucher disease carriers among Tay-Sachs disease carriers.
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- European Journal of Human Genetics, 1998, v. 6, n. 2, p. 185, doi. 10.1038/sj.ejhg.5200176
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- Article
Human EGFR, a candidate gene for the Silver-Russell syndrome, is biallelically expressed in a wide range of fetal tissues.
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- European Journal of Human Genetics, 1998, v. 6, n. 2, p. 158, doi. 10.1038/sj.ejhg.5200179
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First-stage autosomal genome screen in extended pedigrees suggests genes predisposing to low bone mineral density on chromosomes 1p, 2p and 4q.
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- European Journal of Human Genetics, 1998, v. 6, n. 2, p. 151, doi. 10.1038/sj.ejhg.5200169
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- Article