Gaudier patients with oculomotor abnormalities do not have a unique genotype.
- Published in:
- Clinical Genetics, 1992, v. 41, n. 1, p. 1, doi. 10.1111/j.1399-0004.1992.tb03618.x
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- Publication type:
- Article
Works matching IS 00099163 AND DT 1992 AND VI 41 AND IP 1
Results: 14
1
2
Severe Silver-Russell syndrome and translocation (17;20) (q25;q13).
- Published in:
- Clinical Genetics, 1992, v. 41, n. 1, p. 51, doi. 10.1111/j.1399-0004.1992.tb03630.x
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- Publication type:
- Article
3
Mental retardation with blepharo-naso-facial abnormalities and hand malformations: a new syndrome?
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- Clinical Genetics, 1992, v. 41, n. 1, p. 22, doi. 10.1111/j.1399-0004.1992.tb03622.x
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- Publication type:
- Article
4
Fragile site Xq27.3 in a family without mental retardation.
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- Clinical Genetics, 1992, v. 41, n. 1, p. 33, doi. 10.1111/j.1399-0004.1992.tb03625.x
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- Publication type:
- Article
5
A unique de novo interstitial deletion del(17) (q21.3q23) in a phenotypically abnormal infant.
- Published in:
- Clinical Genetics, 1992, v. 41, n. 1, p. 54, doi. 10.1111/j.1399-0004.1992.tb03631.x
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- Publication type:
- Article
6
Interstitial deletion of chromosome 1 del (1) (q32 q42): case report and review of the literature.
- Published in:
- Clinical Genetics, 1992, v. 41, n. 1, p. 25, doi. 10.1111/j.1399-0004.1992.tb03623.x
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- Publication type:
- Article
7
Trisomy 18 mosaicism with complete peripheral lymphocyte trisomy and normal intelligence.
- Published in:
- Clinical Genetics, 1992, v. 41, n. 1, p. 36, doi. 10.1111/j.1399-0004.1992.tb03626.x
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- Publication type:
- Article
8
On the variable expression of the Brachmann-de Lange syndrome.
- Published in:
- Clinical Genetics, 1992, v. 41, n. 1, p. 42, doi. 10.1111/j.1399-0004.1992.tb03628.x
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- Publication type:
- Article
9
Treatment for B-cell-type lymphoma in a girl associated with Bloom's syndrome.
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- Clinical Genetics, 1992, v. 41, n. 1, p. 46, doi. 10.1111/j.1399-0004.1992.tb03629.x
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- Publication type:
- Article
10
Further evidence consistent with Yqh as an indicator of risk of gonadal blastoma in Y-bearing mosaic Turner syndrome.
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- Clinical Genetics, 1992, v. 41, n. 1, p. 28, doi. 10.1111/j.1399-0004.1992.tb03624.x
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- Publication type:
- Article
11
Homozygosity for the transthyretin-Met30-gene in seven individuals with familial amyloidosis with polyneuropathy detected by restriction enzyme analysis of amplified genomic DNA sequences.
- Published in:
- Clinical Genetics, 1992, v. 41, n. 1, p. 39, doi. 10.1111/j.1399-0004.1992.tb03627.x
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- Publication type:
- Article
12
An HLA study in 74 Danish haemochromatosis patients and in 21 of their families.
- Published in:
- Clinical Genetics, 1992, v. 41, n. 1, p. 6, doi. 10.1111/j.1399-0004.1992.tb03619.x
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- Publication type:
- Article
13
Birth prevalence studies of the Crouzon syndrome: comparison of direct and indirect methods.
- Published in:
- Clinical Genetics, 1992, v. 41, n. 1, p. 12, doi. 10.1111/j.1399-0004.1992.tb03620.x
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- Publication type:
- Article
14
Severe pre- and postnatal growth retardation, developmental delay with hypotonia and marked hypotrophy of the distal extremities, dental anomalies, and eczematous skin. A new autosomal recessive entity.
- Published in:
- Clinical Genetics, 1992, v. 41, n. 1, p. 16, doi. 10.1111/j.1399-0004.1992.tb03621.x
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- Publication type:
- Article