Works matching IS 00099163 AND DT 1996 AND VI 50 AND IP 3
Results: 12
Triphalangeal thumb and brachyectrodactyly syndrome: an uncommon entity with evidence of geographic distribution.
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- Clinical Genetics, 1996, v. 50, n. 3, p. 152, doi. 10.1111/j.1399-0004.1996.tb02371.x
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- Article
Agenesis of the corpus callosum in Schinzel-Giedion syndrome associated with 47, XXY karyotype.
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- Clinical Genetics, 1996, v. 50, n. 3, p. 145, doi. 10.1111/j.1399-0004.1996.tb02369.x
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- Article
Chromosome 22q11 deletion and other chromosome aberrations in cases with cleft palate, congenital heart defects and/or mental disability. A survey based on the Danish Facial Cleft Register.
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- Clinical Genetics, 1996, v. 50, n. 3, p. 116, doi. 10.1111/j.1399-0004.1996.tb02364.x
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A concealed penis mimicking penile agenesis in an infant with trisomy 13.
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- Clinical Genetics, 1996, v. 50, n. 3, p. 156, doi. 10.1111/j.1399-0004.1996.tb02372.x
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Deletion of the long arm of chromosome 6: two new patients and literature review.
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- Clinical Genetics, 1996, v. 50, n. 3, p. 138, doi. 10.1111/j.1399-0004.1996.tb02368.x
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- Article
A cystic fibrosis patient homozygous for 621 + 1G→T mutation has a severe pulmonary disease, mild pancreatic insufficiency and a gastro-esophageal reflux.
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- Clinical Genetics, 1996, v. 50, n. 3, p. 149, doi. 10.1111/j.1399-0004.1996.tb02370.x
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- Article
Mitotic and meiotic stability of the CAG repeat in the X-linked spinal and bulbar muscular atrophy gene.
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- Clinical Genetics, 1996, v. 50, n. 3, p. 133, doi. 10.1111/j.1399-0004.1996.tb02367.x
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Neuroradiology and clinical aspects of Usher syndrome.
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- Clinical Genetics, 1996, v. 50, n. 3, p. 126, doi. 10.1111/j.1399-0004.1996.tb02366.x
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- Article
Short rib-polydactyly syndrome in twins: Beemer-Langer type with poly dactyly.
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- Clinical Genetics, 1996, v. 50, n. 3, p. 159, doi. 10.1111/j.1399-0004.1996.tb02373.x
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- Article
Lack of association of angiotensin-converting enzyme ( ACE). Gene insertion/deletion polymorphism with CAD in two Asian populations.
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- Clinical Genetics, 1996, v. 50, n. 3, p. 121, doi. 10.1111/j.1399-0004.1996.tb02365.x
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- Article
X-linked exudative vitreoretinopathy caused by an arginine to leucine substitution (R121L) in the Norrie disease protein.
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- Clinical Genetics, 1996, v. 50, n. 3, p. 113, doi. 10.1111/j.1399-0004.1996.tb02363.x
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- Article
Molecular analysis of a Japanese family with Lesch-Nyhan syndrome: identification of mutation and prenatal diagnosis.
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- Clinical Genetics, 1996, v. 50, n. 3, p. 164, doi. 10.1111/j.1399-0004.1996.tb02374.x
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- Article