Works matching IS 00099163 AND DT 1998 AND VI 54 AND IP 4
Results: 23
t(1;18)(q32.1;q22.1) associated with genitourinary malformations.
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- Clinical Genetics, 1998, v. 54, n. 4, p. 330, doi. 10.1034/j.1399-0004.1998.5440411.x
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Presence of the AZF region in a female with an idic(Y)(q11).
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- Clinical Genetics, 1998, v. 54, n. 4, p. 341, doi. 10.1034/j.1399-0004.1998.5440413.x
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Identification and characterization of a de novo partial trisomy 10p by comparative genomic hybridization (CGH).
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- Clinical Genetics, 1998, v. 54, n. 4, p. 334, doi. 10.1034/j.1399-0004.1998.5440412.x
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Autosomal dominant carpal tunnel syndrome.
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- Clinical Genetics, 1998, v. 54, n. 4, p. 345, doi. 10.1034/j.1399-0004.1998.5440414.x
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An unusual fragile X sibship: female compound heterozygote and male with a partially methylated full mutation.
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- Clinical Genetics, 1998, v. 54, n. 4, p. 309, doi. 10.1034/j.1399-0004.1998.5440408.x
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X-inactivation pattern in the liver of a manifesting female with ornithine transcarbamylase (OTC) deficiency.
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- Clinical Genetics, 1998, v. 54, n. 4, p. 349, doi. 10.1034/j.1399-0004.1998.5440415.x
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Variants of B cell lymphoma 6 ( BCL6) and marked atopy.
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- Clinical Genetics, 1998, v. 54, n. 4, p. 362, doi. 10.1111/j.1399-0004.1998.tb03743.x
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Erratum.
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- Clinical Genetics, 1998, v. 54, n. 4, p. 373, doi. 10.1034/j.1399-0004.1998.5440423.x
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Molecular analysis of two pre-mutations in myotonic dystrophy.
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- Clinical Genetics, 1998, v. 54, n. 4, p. 354, doi. 10.1034/j.1399-0004.1998.5440416.x
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Fragile X syndrome, mental retardation and macroorchidism.
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- Clinical Genetics, 1998, v. 54, n. 4, p. 366, doi. 10.1111/j.1399-0004.1998.tb03745.x
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Associations of angiotensinogen gene mutations with hypertension and myocardial infarction in a gulf population.
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- Clinical Genetics, 1998, v. 54, n. 4, p. 285, doi. 10.1034/j.1399-0004.1998.5440405.x
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Mexican geneticists' opinions on disclosure issues.
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- Clinical Genetics, 1998, v. 54, n. 4, p. 321, doi. 10.1034/j.1399-0004.1998.5440410.x
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Unusual clinical features in an Angelman syndrome patient with uniparental disomy due to a translocation 15q15q.
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- Clinical Genetics, 1998, v. 54, n. 4, p. 303, doi. 10.1034/j.1399-0004.1998.5440407.x
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Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity.
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- Clinical Genetics, 1998, v. 54, n. 4, p. 315, doi. 10.1034/j.1399-0004.1998.5440409.x
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Fragile X and Rett syndromes in Puerto Rico.
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- Clinical Genetics, 1998, v. 54, n. 4, p. 365, doi. 10.1034/j.1399-0004.1998.5440419.x
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Failure to identify the ryanodine receptor G1021A mutation in a large North American population with malignant hyperthermia.
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- Clinical Genetics, 1998, v. 54, n. 4, p. 358, doi. 10.1111/j.1399-0004.1998.tb03742.x
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HotSpots.
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- Clinical Genetics, 1998, v. 54, n. 4, p. 266, doi. 10.1034/j.1399-0004.1998.5440402.x
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Genetics of Parkinson's disease.
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- Clinical Genetics, 1998, v. 54, n. 4, p. 259, doi. 10.1034/j.1399-0004.1998.5440401.x
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Two sisters with different chromosomal microdeletions: Rubinstein - Taybi syndrome and 22q deletion syndrome.
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- Clinical Genetics, 1998, v. 54, n. 4, p. 371, doi. 10.1034/j.1399-0004.1998.5440422.x
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Developmental eye disease - a genome era paradigm.
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- Clinical Genetics, 1998, v. 54, n. 4, p. 272, doi. 10.1111/j.1399-0004.1998.tb03728.x
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Genetic landmarks through philately - The Habsburg jaw.
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- Clinical Genetics, 1998, v. 54, n. 4, p. 283, doi. 10.1111/j.1399-0004.1998.tb03729.x
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I1307K APC and hMLH1 mutations in a non-Jewish family with hereditary non-polyposis colorectal cancer.
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- Clinical Genetics, 1998, v. 54, n. 4, p. 368, doi. 10.1034/j.1399-0004.1998.5440421.x
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Pallister-Killian syndrome [i(12p)]: first pre-natal diagnosis using cordocentesis in the second trimester confirmed by in situ hybridization.
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- Clinical Genetics, 1998, v. 54, n. 4, p. 294, doi. 10.1111/j.1399-0004.1998.tb03731.x
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