Works matching IS 03406717 AND DT 2001 AND VI 108 AND IP 6
Results: 17
Evaluation of the fragile X (FRAXA) syndrome with methylation-sensitive PCR.
- Published in:
- Human Genetics, 2001, v. 108, n. 6, p. 450, doi. 10.1007/s004390100519
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- Publication type:
- Article
Genome-wide distribution of linkage disequilibrium in the population of Palau and its implications for gene flow in Remote Oceania.
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- Human Genetics, 2001, v. 108, n. 6, p. 521, doi. 10.1007/s004390100511
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- Publication type:
- Article
Acrocentric chromosome disomy is increased in spermatozoa from fathers of Turner syndrome patients.
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- Human Genetics, 2001, v. 108, n. 6, p. 499, doi. 10.1007/s004390100521
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- Publication type:
- Article
Back mutation can produce phenotype reversion in Bloom syndrome somatic cells.
- Published in:
- 2001
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- Publication type:
- Erratum
Analyses of genetic abnormalities in type I CD36 deficiency in Japan: identification and cell biological characterization of two novel mutations that cause CD36 deficiency in man.
- Published in:
- Human Genetics, 2001, v. 108, n. 6, p. 459, doi. 10.1007/s004390100525
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- Publication type:
- Article
Preimplantation genetic diagnosis for spinal and bulbar muscular atrophy (SBMA).
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- Human Genetics, 2001, v. 108, n. 6, p. 494, doi. 10.1007/s004390100534
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- Publication type:
- Article
Interaction between the melanocortin-1 receptor and P genes contributes to inter-individual variation in skin pigmentation phenotypes in a Tibetan population.
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- Human Genetics, 2001, v. 108, n. 6, p. 516, doi. 10.1007/s004390100524
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- Publication type:
- Article
Distribution of glucose-6-phosphate dehydrogenase mutations in Southeast Asia.
- Published in:
- Human Genetics, 2001, v. 108, n. 6, p. 445, doi. 10.1007/s004390100527
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- Publication type:
- Article
The genes for the human VPS10 domain-containing receptors are large and contain many small exons.
- Published in:
- Human Genetics, 2001, v. 108, n. 6, p. 529, doi. 10.1007/s004390100504
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- Publication type:
- Article
A 1.1-kb duplication in the p67-phox gene causes chronic granulomatous disease.
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- Human Genetics, 2001, v. 108, n. 6, p. 504, doi. 10.1007/s004390100526
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- Publication type:
- Article
Physical and transcriptional mapping of the X-linked cleft palate and ankyloglossia (CPX) critical region.
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- Human Genetics, 2001, v. 108, n. 6, p. 537, doi. 10.1007/s004390100518
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- Publication type:
- Article
Statistical estimation and pedigree analysis of CCR2-CCR5 haplotypes.
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- Human Genetics, 2001, v. 108, n. 6, p. 484, doi. 10.1007/s004390100512
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- Publication type:
- Article
The TNFRSF6 gene is not implicated in familial early-onset Alzheimer's disease.
- Published in:
- Human Genetics, 2001, v. 108, n. 6, p. 552, doi. 10.1007/s004390100508
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- Publication type:
- Article
Analysis of lymphoedema-distichiasis families for FOXC2 mutations reveals small insertions and deletions throughout the gene.
- Published in:
- Human Genetics, 2001, v. 108, n. 6, p. 546, doi. 10.1007/s004390100528
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- Publication type:
- Article
Partial maternal heterodisomy of chromosome 17q25 in a case of severe mental retardation.
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- Human Genetics, 2001, v. 108, n. 6, p. 511, doi. 10.1007/s004390100522
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- Publication type:
- Article
Improved definition of chromosomal breakpoints using high-resolution multicolour banding.
- Published in:
- Human Genetics, 2001, v. 108, n. 6, p. 478, doi. 10.1007/s004390100502
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- Publication type:
- Article
The structure of duplications on human acrocentric chromosome short arms derived by the analysis of 15p.
- Published in:
- Human Genetics, 2001, v. 108, n. 6, p. 467, doi. 10.1007/s004390100520
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- Publication type:
- Article