Works matching IS 03406717 AND DT 2000 AND VI 106 AND IP 5
Results: 14
Analysis of genetic polymorphisms in the transforming growth factor-β1 gene and the risk of Alzheimer's disease.
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- Human Genetics, 2000, v. 106, n. 5, p. 565, doi. 10.1007/s004390050026
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- Article
Association of the low-density lipoprotein receptor gene with obesity in Native American populations.
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- Human Genetics, 2000, v. 106, n. 5, p. 546, doi. 10.1007/s004390050023
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- Article
Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic.
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- Human Genetics, 2000, v. 106, n. 5, p. 538, doi. 10.1007/s004390050022
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- Article
Variation in alphoid DNA size and trisomy 21: a possible cause of nondisjunction.
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- Human Genetics, 2000, v. 106, n. 5, p. 525, doi. 10.1007/s004390050020
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Interchromosomal effects for chromosome 21 in carriers of structural chromosome reorganizations determined by fluorescence in situ hybridization on sperm nuclei.
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- Human Genetics, 2000, v. 106, n. 5, p. 500, doi. 10.1007/s004390000295
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- Article
A 5-base insertion in the γC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract.
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- Human Genetics, 2000, v. 106, n. 5, p. 531, doi. 10.1007/s004390050021
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- Article
Is there an interchromosomal effect in reciprocal translocation carriers? Sperm FISH studies.
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- Human Genetics, 2000, v. 106, n. 5, p. 517, doi. 10.1007/s004390000275
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- Article
Splice-site mutation in TGM1 in congenital recessive ichthyosis in American families: molecular, genetic, genealogic, and clinical studies.
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- Human Genetics, 2000, v. 106, n. 5, p. 492, doi. 10.1007/s004390000284
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Genetic basis of acanthosis nigricans in Mexican Americans and its association with phenotypes related to type 2 diabetes.
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- Human Genetics, 2000, v. 106, n. 5, p. 467, doi. 10.1007/s004390000274
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- Article
Autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly) is linked to chromosome 22q12-13.
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- Human Genetics, 2000, v. 106, n. 5, p. 557, doi. 10.1007/s004390050025
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A genetic study of Hodgkin's lymphoma: an estimate of heritability and anticipation based on the familial cancer database in Sweden.
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- Human Genetics, 2000, v. 106, n. 5, p. 553, doi. 10.1007/s004390050024
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Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and p22-phox deficiency.
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- Human Genetics, 2000, v. 106, n. 5, p. 473, doi. 10.1007/s004390000288
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- Article
Fine mapping of the constitutional translocation t(11;22)(q23;q11).
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- Human Genetics, 2000, v. 106, n. 5, p. 506, doi. 10.1007/s004390000287
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The mutation of Pro<sup>789</sup> to Leu reduces the activity of the fast-twitch skeletal muscle sarco(endo)plasmic reticulum Ca<sup>2+</sup> ATPase (SERCA1) and is associated with Brody disease.
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- Human Genetics, 2000, v. 106, n. 5, p. 482, doi. 10.1007/s004390000297
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- Article