Works matching IS 00099163 AND DT 2000 AND VI 57 AND IP 5
Results: 16
Oligonucleotide microarrays bring new insights to old mice.
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- Clinical Genetics, 2000, v. 57, n. 5, p. 332, doi. 10.1034/j.1399-0004.2000.570502.1.x
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- Article
A patient with maternal chromosome 14 UPD presenting with a mild phenotype and MODY.
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- Clinical Genetics, 2000, v. 57, n. 5, p. 406, doi. 10.1034/j.1399-0004.2000.570514.x
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- Article
Improved classification of acute leukemias using oligonucleotide microarrays.
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- Clinical Genetics, 2000, v. 57, n. 5, p. 330, doi. 10.1034/j.1399-0004.2000.570502.x
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- Article
Finding our SNPs using oligonucleotide microarrays.
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- Clinical Genetics, 2000, v. 57, n. 5, p. 335, doi. 10.1034/j.1399-0004.2000.570502.2.x
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- Article
Perceptions of Ashkenazi Jewish breast cancer patients on genetic testing for mutations in BRCA1 and BRCA2.
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- Clinical Genetics, 2000, v. 57, n. 5, p. 376, doi. 10.1034/j.1399-0004.2000.570508.x
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- Article
Recent advances in the molecular basis of inherited photoreceptor degeneration.
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- Clinical Genetics, 2000, v. 57, n. 5, p. 313, doi. 10.1034/j.1399-0004.2000.570501.x
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- Article
Genetic defects as recorded in the pottery of the Moche culture of Peru.
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- Clinical Genetics, 2000, v. 57, n. 5, p. 347, doi. 10.1034/j.1399-0004.2000.570504.x
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- Article
Aberrant SP-B mRNA in lung tissue of patients with congenital alveolar proteinosis (CAP).
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- Clinical Genetics, 2000, v. 57, n. 5, p. 359, doi. 10.1034/j.1399-0004.2000.570506.x
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Genetic testing, ethical concerns, and the role of patent law.
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- Clinical Genetics, 2000, v. 57, n. 5, p. 370, doi. 10.1034/j.1399-0004.2000.570507.x
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- Article
The molecular basis for developmental disorders of the pituitary gland in man.
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- Clinical Genetics, 2000, v. 57, n. 5, p. 337, doi. 10.1034/j.1399-0004.2000.570503.x
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- Article
Holoprosencephaly, sacral anomalies, and situs ambiguus in an infant with partial monosomy 7q/trisomy 2p and SHH and HLXB9 haploinsufficiency.
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- Clinical Genetics, 2000, v. 57, n. 5, p. 388, doi. 10.1034/j.1399-0004.2000.570510.x
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Somatic segregation errors predominantly contribute to the gain or loss of a paternal chromosome leading to uniparental disomy for chromosome 15.
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- Clinical Genetics, 2000, v. 57, n. 5, p. 349, doi. 10.1034/j.1399-0004.2000.570505.x
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- Article
Germline mutation screening of the STK11/LKB1 gene in familial breast cancer with LOH on 19p.
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- Clinical Genetics, 2000, v. 57, n. 5, p. 394, doi. 10.1034/j.1399-0004.2000.570511.x
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- Article
A novel mutation in the HEXA gene specific to Tay–Sachs disease carriers of Jewish Iraqi origin.
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- Clinical Genetics, 2000, v. 57, n. 5, p. 398, doi. 10.1034/j.1399-0004.2000.570512.x
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- Article
Mild phenotype in two siblings with distal monosomy 12p13.31→pter.
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- Clinical Genetics, 2000, v. 57, n. 5, p. 401, doi. 10.1034/j.1399-0004.2000.570513.x
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- Article
Clinical presentation and mutation identification in the NBS1 gene in a boy with Nijmegen breakage syndrome.
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- Clinical Genetics, 2000, v. 57, n. 5, p. 384, doi. 10.1034/j.1399-0004.2000.570509.x
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- Article