Linkage studies exclude the AT-V gene(s) from the translocation breakpoints in an AT-V patient.
- Published in:
- Clinical Genetics, 1997, v. 51, n. 5, p. 309, doi. 10.1111/j.1399-0004.1997.tb02479.x
- By:
- Publication type:
- Article
Works matching IS 00099163 AND DT 1997 AND VI 51 AND IP 5
Results: 16
1
2
Female pseudohermaphroditism due to classical 21-hydroxylase deficiency in a girl with Turner syndrome.
- Published in:
- Clinical Genetics, 1997, v. 51, n. 5, p. 351, doi. 10.1111/j.1399-0004.1997.tb02487.x
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- Publication type:
- Article
3
Two novel missense mutations in the ATP-binding domain of the adrenoleukodystrophy gene: immunoblotting and immunocytological study of two patients.
- Published in:
- Clinical Genetics, 1997, v. 51, n. 5, p. 322, doi. 10.1111/j.1399-0004.1997.tb02481.x
- By:
- Publication type:
- Article
4
Molecular and clinical studies of three cases of female pseudohermaphroditism with caudal dysplasia suggest multiple etiologies.
- Published in:
- Clinical Genetics, 1997, v. 51, n. 5, p. 331, doi. 10.1111/j.1399-0004.1997.tb02483.x
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- Publication type:
- Article
5
Pearson marrow pancreas syndrome: a molecular study and clinical management.
- Published in:
- Clinical Genetics, 1997, v. 51, n. 5, p. 338, doi. 10.1111/j.1399-0004.1997.tb02484.x
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- Publication type:
- Article
6
Molecular studies of an X;Y translocation chromosome in a woman with deletion of the pseudoautosomal region but normal height.
- Published in:
- Clinical Genetics, 1997, v. 51, n. 5, p. 346, doi. 10.1111/j.1399-0004.1997.tb02486.x
- By:
- Publication type:
- Article
7
Brachydactyly in a child with duplication-deficiency subsequent to t(15;20)(q25.2;p12.2)mat. Candidate regions on one or both chromosomes?
- Published in:
- Clinical Genetics, 1997, v. 51, n. 5, p. 357, doi. 10.1111/j.1399-0004.1997.tb02489.x
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- Publication type:
- Article
8
Announcements.
- Published in:
- Clinical Genetics, 1997, v. 51, n. 5, p. 363, doi. 10.1111/j.1399-0004.1997.tb02491.x
- Publication type:
- Article
9
Lissencephaly associated with cerebellar hypoplasia and myoclonic epilepsy in a Bedouin kindred: a new syndrome?
- Published in:
- Clinical Genetics, 1997, v. 51, n. 5, p. 326, doi. 10.1111/j.1399-0004.1997.tb02482.x
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- Publication type:
- Article
10
Analysis of 65 Turkish patients with congenital aplastic anemia (Fanconi anemia and non-Fanconi anemia): Hacettepe experience.
- Published in:
- Clinical Genetics, 1997, v. 51, n. 5, p. 296, doi. 10.1111/j.1399-0004.1997.tb02477.x
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- Publication type:
- Article
11
Two new polymorphisms in the BRCA 1 gene.
- Published in:
- Clinical Genetics, 1997, v. 51, n. 5, p. 361, doi. 10.1111/j.1399-0004.1997.tb02490.x
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- Publication type:
- Article
12
High prevalence of a novel mutation in the exon 4 of the low-density lipoprotein receptor gene causing familial hypercholesterolemia in Belgium.
- Published in:
- Clinical Genetics, 1997, v. 51, n. 5, p. 303, doi. 10.1111/j.1399-0004.1997.tb02478.x
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- Publication type:
- Article
13
Polydactyly and fetal hydantoin syndrome: an additional component of the syndrome?
- Published in:
- Clinical Genetics, 1997, v. 51, n. 5, p. 343, doi. 10.1111/j.1399-0004.1997.tb02485.x
- By:
- Publication type:
- Article
14
The prevalence of Usher syndrome and other retinal dystrophy-hearing impairment associations.
- Published in:
- Clinical Genetics, 1997, v. 51, n. 5, p. 314, doi. 10.1111/j.1399-0004.1997.tb02480.x
- By:
- Publication type:
- Article
15
APO E Polymorphism in Spanish and Moroccan populations.
- Published in:
- Clinical Genetics, 1997, v. 51, n. 5, p. 354, doi. 10.1111/j.1399-0004.1997.tb02488.x
- By:
- Publication type:
- Article
16
MN blood group affects response of serum LDL cholesterol level to a low fat diet.
- Published in:
- Clinical Genetics, 1997, v. 51, n. 5, p. 291, doi. 10.1111/j.1399-0004.1997.tb02476.x
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- Publication type:
- Article