A boy with thanatophoric dysplasia surviving 212 days.
- Published in:
- Clinical Genetics, 1987, v. 32, n. 6, p. 415, doi. 10.1111/j.1399-0004.1987.tb03161.x
- By:
- Publication type:
- Article
Works matching IS 00099163 AND DT 1987 AND VI 32 AND IP 6
Results: 18
1
2
18ph+ is a so-called normal chromosomal variant.
- Published in:
- Clinical Genetics, 1987, v. 32, n. 6, p. 419, doi. 10.1111/j.1399-0004.1987.tb03164.x
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- Publication type:
- Article
3
Deletion of the DXS165 locus in patients with classical Choroideremia.
- Published in:
- Clinical Genetics, 1987, v. 32, n. 6, p. 421, doi. 10.1111/j.1399-0004.1987.tb03166.x
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- Publication type:
- Article
4
Gamma-glutamyl transferase activity in the amniotic fluid of fetuses with chromosomal aberrations and inborn errors of metabolism.
- Published in:
- Clinical Genetics, 1987, v. 32, n. 6, p. 403, doi. 10.1111/j.1399-0004.1987.tb03158.x
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- Publication type:
- Article
5
Unusual pedigree patterns in families with spinal muscular atrophy.
- Published in:
- Clinical Genetics, 1987, v. 32, n. 6, p. 414, doi. 10.1111/j.1399-0004.1987.tb03160.x
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- Publication type:
- Article
6
Erratum.
- Published in:
- Clinical Genetics, 1987, v. 32, n. 6, p. 425, doi. 10.1111/j.1399-0004.1987.tb03168.x
- Publication type:
- Article
7
What is the ichthyosis in the so-called ichthyosis-cheek-eyebrow (ICE) syndrome?
- Published in:
- Clinical Genetics, 1987, v. 32, n. 6, p. 418, doi. 10.1111/j.1399-0004.1987.tb03163.x
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- Publication type:
- Article
8
A peculiar subphenotype in the fra(X) syndrome: extreme obesity-short stature-stubby hands and feet-diffuse hyperpigmentation. Further evidence of disturbed hypothalamic function in the fra(X) syndrome?
- Published in:
- Clinical Genetics, 1987, v. 32, n. 6, p. 388, doi. 10.1111/j.1399-0004.1987.tb03155.x
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- Publication type:
- Article
9
Similar facia! anomalies in patients with dicentric Y and long arm Y deletion.
- Published in:
- Clinical Genetics, 1987, v. 32, n. 6, p. 420, doi. 10.1111/j.1399-0004.1987.tb03165.x
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- Publication type:
- Article
10
Announcements.
- Published in:
- Clinical Genetics, 1987, v. 32, n. 6, p. 424, doi. 10.1111/j.1399-0004.1987.tb03167.x
- Publication type:
- Article
11
Convoluted cells as a marker for maternal cell contamination in CVS culture.
- Published in:
- Clinical Genetics, 1987, v. 32, n. 6, p. 417, doi. 10.1111/j.1399-0004.1987.tb03162.x
- By:
- Publication type:
- Article
12
A boy with Down's syndrome having recombinant chromosome 21 but no SOD-1 excess.
- Published in:
- Clinical Genetics, 1987, v. 32, n. 6, p. 383, doi. 10.1111/j.1399-0004.1987.tb03154.x
- By:
- Publication type:
- Article
13
Isolated autosomal recessive renal magnesium loss in two sisters.
- Published in:
- Clinical Genetics, 1987, v. 32, n. 6, p. 398, doi. 10.1111/j.1399-0004.1987.tb03157.x
- By:
- Publication type:
- Article
14
Elevated 1,25-dihydroxyvitamin D and normocalcaemia in presumed familial Williams syndrome.
- Published in:
- Clinical Genetics, 1987, v. 32, n. 6, p. 369, doi. 10.1111/j.1399-0004.1987.tb03151.x
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- Publication type:
- Article
15
Postmortem Menkes diagnosis from carrier testing of female relatives.
- Published in:
- Clinical Genetics, 1987, v. 32, n. 6, p. 393, doi. 10.1111/j.1399-0004.1987.tb03156.x
- By:
- Publication type:
- Article
16
On the origin of recurrent trisomy 21: determination using chromosomal and DNA polymorphisms.
- Published in:
- Clinical Genetics, 1987, v. 32, n. 6, p. 409, doi. 10.1111/j.1399-0004.1987.tb03159.x
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- Publication type:
- Article
17
Distal symphalangism with involvement of the thumbs and great toes.
- Published in:
- Clinical Genetics, 1987, v. 32, n. 6, p. 375, doi. 10.1111/j.1399-0004.1987.tb03152.x
- By:
- Publication type:
- Article
18
Trisomy 18 clustering in Kuwait.
- Published in:
- Clinical Genetics, 1987, v. 32, n. 6, p. 379, doi. 10.1111/j.1399-0004.1987.tb03153.x
- By:
- Publication type:
- Article