A complete protein truncation test for BRCA1 and BRCA2.
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 3, p. 226, doi. 10.1038/sj.ejhg.5200172
- By:
- Publication type:
- Article
Works matching IS 10184813 AND DT 1998 AND VI 6 AND IP 3
Results: 14
1
2
Detection of an insertion deletion of region 8q13-q21.2 in a patient with Duane syndrome: implications for mapping and cloning a Duane gene.
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 3, p. 187, doi. 10.1038/sj.ejhg.5200173
- By:
- Publication type:
- Article
3
A sensorineural progressive autosomal recessive form of isolated deafness, DFNB13, maps to chromosome 7q34-q36.
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 3, p. 245, doi. 10.1038/sj.ejhg.5200177
- By:
- Publication type:
- Article
4
Cytogenetic and molecular study of four couples with multiple trisomy 21 pregnancies.
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 3, p. 207, doi. 10.1038/sj.ejhg.5200178
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- Publication type:
- Article
5
MEHMO (mental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly, obesity), a novel syndrome: assignment of disease locus to Xp21.1–p22.13.
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 3, p. 201
- By:
- Publication type:
- Article
6
Identical mutation in 55% of the ATM alleles in 11 Norwegian AT families: evidence for a founder effect.
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 3, p. 235, doi. 10.1038/sj.ejhg.5200181
- By:
- Publication type:
- Article
7
Identification of four novel mutations in severe methylenetetrahydrofolate reductase deficiency.
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 3, p. 257, doi. 10.1038/sj.ejhg.5200182
- By:
- Publication type:
- Article
8
Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2).
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 3, p. 213, doi. 10.1038/sj.ejhg.5200183
- By:
- Publication type:
- Article
9
Linkage of AD HSP and cognitive impairment to chromosome 2p: haplotype and phenotype analysis indicates variable expression and low or delayed penetrance.
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 3, p. 275, doi. 10.1038/sj.ejhg.5200185
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- Publication type:
- Article
10
Assignment of gene responsible for progressive pseudorheumatoid dysplasia to chromosome 6 and examination of COL10A1 as candidate gene.
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 3, p. 251, doi. 10.1038/sj.ejhg.5200187
- By:
- Publication type:
- Article
11
Integrated physical and transcript map of 5q31.3-qter.
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 3, p. 266, doi. 10.1038/sj.ejhg.5200188
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- Publication type:
- Article
12
Chromosome studies in 1792 males prior to intra-cytoplasmic sperm injection: the Dutch experience.
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 3, p. 194, doi. 10.1038/sj.ejhg.5200193
- By:
- Publication type:
- Article
13
Cloning and gene structure of the rod cGMP phosphodiesterase delta subunit gene (PDED) in man and mouse.
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 3, p. 283, doi. 10.1038/sj.ejhg.5200215
- By:
- Publication type:
- Article
14
Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies.
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 3, p. 291, doi. 10.1038/sj.ejhg.5200221
- By:
- Publication type:
- Article