Two novel mutations in the LDL receptor gene: common causes of familial hypercholesterolemia in a Spanish population.
- Published in:
- Clinical Genetics, 1996, v. 49, n. 4, p. 180, doi. 10.1111/j.1399-0004.1996.tb03283.x
- By:
- Publication type:
- Article
Works matching IS 00099163 AND DT 1996 AND VI 49 AND IP 4
Results: 11
1
2
A case report: corpus callosum dysgenesis, microcephaly, infantile spasm, cleft lip-palate, exophthalmos and psychomotor retardation.
- Published in:
- Clinical Genetics, 1996, v. 49, n. 4, p. 220, doi. 10.1111/j.1399-0004.1996.tb03291.x
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- Publication type:
- Article
3
A G.
- Published in:
- Clinical Genetics, 1996, v. 49, n. 4, p. 175, doi. 10.1111/j.1399-0004.1996.tb03282.x
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- Publication type:
- Article
4
Dandy-Walker malformation and polydactyly: a possible expression of hydrolethalus syndrome.
- Published in:
- Clinical Genetics, 1996, v. 49, n. 4, p. 211, doi. 10.1111/j.1399-0004.1996.tb03289.x
- By:
- Publication type:
- Article
5
De novo 46,XX, dir dup (11)(q13.3→q14.2) in a patient with mental retardation, congenital cardiopathy and thrombopenia.
- Published in:
- Clinical Genetics, 1996, v. 49, n. 4, p. 206, doi. 10.1111/j.1399-0004.1996.tb03288.x
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- Publication type:
- Article
6
Multiple congenital malformations in an infant prenatally diagnosed with mosaicism for dup(1q) and del(Xq).
- Published in:
- Clinical Genetics, 1996, v. 49, n. 4, p. 216, doi. 10.1111/j.1399-0004.1996.tb03290.x
- By:
- Publication type:
- Article
7
RYR mutation G1021A (Gly341Arg) is not frequent in Danish and Swedish families with malignant hyperthermia susceptibility.
- Published in:
- Clinical Genetics, 1996, v. 49, n. 4, p. 186, doi. 10.1111/j.1399-0004.1996.tb03284.x
- By:
- Publication type:
- Article
8
Maternal origin of transferrin receptor positive cells in venous blood of pregnant women.
- Published in:
- Clinical Genetics, 1996, v. 49, n. 4, p. 196, doi. 10.1111/j.1399-0004.1996.tb03286.x
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- Publication type:
- Article
9
Psychological and social impact of carrier screening for cystic fibrosis among pregnant women - a pilot study.
- Published in:
- Clinical Genetics, 1996, v. 49, n. 4, p. 200, doi. 10.1111/j.1399-0004.1996.tb03287.x
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- Publication type:
- Article
10
A comparative study of X-inactivation in Rett syndrome probands and control subjects.
- Published in:
- Clinical Genetics, 1996, v. 49, n. 4, p. 189, doi. 10.1111/j.1399-0004.1996.tb03285.x
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- Publication type:
- Article
11
How often has Lp(a) evolved?
- Published in:
- Clinical Genetics, 1996, v. 49, n. 4, p. 167, doi. 10.1111/j.1399-0004.1996.tb03281.x
- By:
- Publication type:
- Article