Preimplantation genetic testing for Huntington disease and certain other dominantly inherited disorders.
- Published in:
- Clinical Genetics, 1996, v. 49, n. 2, p. 57, doi. 10.1111/j.1399-0004.1996.tb04327.x
- By:
- Publication type:
- Article
Works matching IS 00099163 AND DT 1996 AND VI 49 AND IP 2
Results: 14
1
2
Microcephaly, seizures, genital hypoplasia, and abnormalities of the hands and feet in a 4-year-old boy with possible Wiedemann syndrome.
- Published in:
- Clinical Genetics, 1996, v. 49, n. 2, p. 98, doi. 10.1111/j.1399-0004.1996.tb04337.x
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- Publication type:
- Article
3
Mild CF in a ΔF508/R347H compound heterozygote woman: does the manifestation of this genotype differ in the two sexes?
- Published in:
- Clinical Genetics, 1996, v. 49, n. 2, p. 103, doi. 10.1111/j.1399-0004.1996.tb04338.x
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- Publication type:
- Article
4
Phocomelia, ectrodactyly, skull defect and urinary system anomaly: Schinzel-phocomelia syndrome?
- Published in:
- Clinical Genetics, 1996, v. 49, n. 2, p. 70, doi. 10.1111/j.1399-0004.1996.tb04330.x
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- Publication type:
- Article
5
Screening for coeliac disease as a possible maternal risk factor for neural tube defect.
- Published in:
- Clinical Genetics, 1996, v. 49, n. 2, p. 106, doi. 10.1111/j.1399-0004.1996.tb04339.x
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- Publication type:
- Article
6
Two novel missense mutations in the LDL receptor gene causing familial hypercholesterolemia.
- Published in:
- Clinical Genetics, 1996, v. 49, n. 2, p. 85, doi. 10.1111/j.1399-0004.1996.tb04333.x
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- Publication type:
- Article
7
Association analyses of NsiI RFLP of human insulin receptor gene in hypertensives.
- Published in:
- Clinical Genetics, 1996, v. 49, n. 2, p. 74, doi. 10.1111/j.1399-0004.1996.tb04331.x
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- Publication type:
- Article
8
Trisomy 18 mosaicism associated with secondary amenorrhea: ratios of mosaicism in different samples and complications.
- Published in:
- Clinical Genetics, 1996, v. 49, n. 2, p. 91, doi. 10.1111/j.1399-0004.1996.tb04335.x
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- Publication type:
- Article
9
Determination of cystic fibrosis carrier frequency for Zuni native Americans of New Mexico.
- Published in:
- Clinical Genetics, 1996, v. 49, n. 2, p. 95, doi. 10.1111/j.1399-0004.1996.tb04336.x
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- Publication type:
- Article
10
An Iranian-Armenian LDLR frameshift mutation causing familial hypercholesterolemia.
- Published in:
- Clinical Genetics, 1996, v. 49, n. 2, p. 88, doi. 10.1111/j.1399-0004.1996.tb04334.x
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- Publication type:
- Article
11
Announcement.
- Published in:
- Clinical Genetics, 1996, v. 49, n. 2, p. 109, doi. 10.1111/j.1399-0004.1996.tb04340.x
- Publication type:
- Article
12
Neuropsychological aspects of Marfan syndrome.
- Published in:
- Clinical Genetics, 1996, v. 49, n. 2, p. 65, doi. 10.1111/j.1399-0004.1996.tb04329.x
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- Publication type:
- Article
13
Neurofibromatosis/Noonan phenotype: a variable feature of type 1 neurofibromatosis.
- Published in:
- Clinical Genetics, 1996, v. 49, n. 2, p. 59, doi. 10.1111/j.1399-0004.1996.tb04328.x
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- Publication type:
- Article
14
Identification of two apolipoprotein variants, A-I Karatsu (Tyr 100 → His) and A-I Kurume (His 162 → Gin).
- Published in:
- Clinical Genetics, 1996, v. 49, n. 2, p. 79, doi. 10.1111/j.1399-0004.1996.tb04332.x
- By:
- Publication type:
- Article