Works matching IS 00099163 AND DT 1996 AND VI 50 AND IP 4
Results: 27
DNA testing in familial hypertrophic cardiomyopathy: clinical and laboratory implications.
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- Clinical Genetics, 1996, v. 50, n. 4, p. 169, doi. 10.1111/j.1399-0004.1996.tb02621.x
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Familial translocation (X;3)(p22.3;p23): chromosomal in situ suppression (CISS) hybridization and inactivation pattern study.
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- Clinical Genetics, 1996, v. 50, n. 4, p. 270, doi. 10.1111/j.1399-0004.1996.tb02643.x
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Distinct facial appearance with nasal hypoplasia, constipation, severe mental retardation and hypotonia in two unrelated young males.
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- Clinical Genetics, 1996, v. 50, n. 4, p. 212, doi. 10.1111/j.1399-0004.1996.tb02628.x
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Down syndrome associated with a retroperitoneal teratoma and Morgagni hernia.
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- Clinical Genetics, 1996, v. 50, n. 4, p. 232, doi. 10.1111/j.1399-0004.1996.tb02633.x
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DNA polymorphisms in linkage disequilibrium at the 3' end of the human APO AII gene: relationships with lipids, apolipoproteins and coronary heart disease.
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- Clinical Genetics, 1996, v. 50, n. 4, p. 191, doi. 10.1111/j.1399-0004.1996.tb02624.x
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Clinical features in the Wiedemann-Beckwith syndrome.
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- Clinical Genetics, 1996, v. 50, n. 4, p. 272, doi. 10.1111/j.1399-0004.1996.tb02644.x
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Association of genetic variation at the β-fibrinogen gene locus and plasma fibrinogen evels; interaction between allele frequency of the G/A.
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- Clinical Genetics, 1996, v. 50, n. 4, p. 184, doi. 10.1111/j.1399-0004.1996.tb02623.x
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Three familial cases presenting with an immobile spine. Rigid spine or Emery-Dreifuss syndrome?
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- Clinical Genetics, 1996, v. 50, n. 4, p. 229, doi. 10.1111/j.1399-0004.1996.tb02632.x
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Partial monosomy 10q and partial trisomy 9q with anal atresia due to maternal translocation: t(9;10)(q32;q26).
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- Clinical Genetics, 1996, v. 50, n. 4, p. 220, doi. 10.1111/j.1399-0004.1996.tb02630.x
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Reduction of CAG expansions in cerebellar cortex and spinal cord of DRPLA.
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- Clinical Genetics, 1996, v. 50, n. 4, p. 199, doi. 10.1111/j.1399-0004.1996.tb02625.x
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Further evidence for a syndrome of 'apple peel' intestinal atresia, ocular anomalies and microcephaly.
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- Clinical Genetics, 1996, v. 50, n. 4, p. 260, doi. 10.1111/j.1399-0004.1996.tb02640.x
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Rapid detection of a mutation hot-spot in the human androgen receptor.
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- Clinical Genetics, 1996, v. 50, n. 4, p. 202, doi. 10.1111/j.1399-0004.1996.tb02626.x
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Siblings with congenital renal tubular acidosis and nerve deafness.
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- Clinical Genetics, 1996, v. 50, n. 4, p. 235, doi. 10.1111/j.1399-0004.1996.tb02634.x
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Predictive and preimplantation genetic testing for Huntington's disease and other late onset dominant disorders: not in conflict but complementary.
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- Clinical Genetics, 1996, v. 50, n. 4, p. 275, doi. 10.1111/j.1399-0004.1996.tb02645.x
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Genetic analysis of the glucose-6-phosphatase mutation of type la glycogen storage disease in a Chinese family.
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- Clinical Genetics, 1996, v. 50, n. 4, p. 206, doi. 10.1111/j.1399-0004.1996.tb02627.x
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Nonsyndromic X-linked mental retardation: review and mapping of MRX29 to Xp21.
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- Clinical Genetics, 1996, v. 50, n. 4, p. 176, doi. 10.1111/j.1399-0004.1996.tb02622.x
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The Floating-Harbor syndrome: two affected siblings in a family.
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- Clinical Genetics, 1996, v. 50, n. 4, p. 217, doi. 10.1111/j.1399-0004.1996.tb02629.x
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Keipert syndrome in two brothers from Turkey.
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- Clinical Genetics, 1996, v. 50, n. 4, p. 223, doi. 10.1111/j.1399-0004.1996.tb02631.x
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Mild form of beta-ketothiolase deficiency (mitochondrial acetoacetyl-CoA thiolase deficiency) in two Japanese siblings: identification of detectable residual activity and cross-reactive material in EB-transformed lymphocytes.
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- Clinical Genetics, 1996, v. 50, n. 4, p. 263, doi. 10.1111/j.1399-0004.1996.tb02641.x
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FISH characterization of the Xq21 breakpoint in a translocation carrier with premature ovarian failure.
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- Clinical Genetics, 1996, v. 50, n. 4, p. 267, doi. 10.1111/j.1399-0004.1996.tb02642.x
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Congenital heart defect and conductive hypoacusia in a patient with the KBG syndrome.
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- Clinical Genetics, 1996, v. 50, n. 4, p. 278, doi. 10.1111/j.1399-0004.1996.tb02647.x
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COFS syndrome with familial 1;16 translocation.
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- Clinical Genetics, 1996, v. 50, n. 4, p. 240, doi. 10.1111/j.1399-0004.1996.tb02635.x
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Nosology of fetal hypokinesia sequence based on CNS abnormalities: is there an Aase-Smith syndrome?
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- Clinical Genetics, 1996, v. 50, n. 4, p. 251, doi. 10.1111/j.1399-0004.1996.tb02638.x
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Life-threatening cardiac involvement throughout life in a case of Costello syndrome.
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- Clinical Genetics, 1996, v. 50, n. 4, p. 244, doi. 10.1111/j.1399-0004.1996.tb02636.x
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Desbuquois syndrome in an Arab Bedouin family.
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- Clinical Genetics, 1996, v. 50, n. 4, p. 255, doi. 10.1111/j.1399-0004.1996.tb02639.x
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Antley-Bixler syndrome.
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- Clinical Genetics, 1996, v. 50, n. 4, p. 277, doi. 10.1111/j.1399-0004.1996.tb02646.x
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A case report of 46, XX, del (21)(q22) de novo deletion associated with Imerslund-Grasbeck syndrome.
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- Clinical Genetics, 1996, v. 50, n. 4, p. 248, doi. 10.1111/j.1399-0004.1996.tb02637.x
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