Works matching IS 00099163 AND DT 1997 AND VI 51 AND IP 6
Results: 14
Association of the renin gene polymorphism with essential hypertension in a Chinese population.
- Published in:
- Clinical Genetics, 1997, v. 51, n. 6, p. 370, doi. 10.1111/j.1399-0004.1997.tb02493.x
- By:
- Publication type:
- Article
Identification of the parental origin of polysomy in two 49,XXXXY cases.
- Published in:
- Clinical Genetics, 1997, v. 51, n. 6, p. 426, doi. 10.1111/j.1399-0004.1997.tb02504.x
- By:
- Publication type:
- Article
Polycystic kidney disease, biliary dysgenesis in a patient with Larsen's syndrome.
- Published in:
- Clinical Genetics, 1997, v. 51, n. 6, p. 408, doi. 10.1111/j.1399-0004.1997.tb02500.x
- By:
- Publication type:
- Article
Recurrent brachial plexus neuropathy in a family with subtle dysmorphic features-a case of hereditary neuralgic amyotrophy.
- Published in:
- Clinical Genetics, 1997, v. 51, n. 6, p. 421, doi. 10.1111/j.1399-0004.1997.tb02503.x
- By:
- Publication type:
- Article
Three cases of trisomy 13 mosaicism and a review of the literature.
- Published in:
- Clinical Genetics, 1997, v. 51, n. 6, p. 403, doi. 10.1111/j.1399-0004.1997.tb02499.x
- By:
- Publication type:
- Article
On the many faces of Leber hereditary optic neuropathy.
- Published in:
- Clinical Genetics, 1997, v. 51, n. 6, p. 388, doi. 10.1111/j.1399-0004.1997.tb02496.x
- By:
- Publication type:
- Article
Codon 89 polymorphism of the human 5α-steroid reductase type 2 gene.
- Published in:
- Clinical Genetics, 1997, v. 51, n. 6, p. 399, doi. 10.1111/j.1399-0004.1997.tb02498.x
- By:
- Publication type:
- Article
A case of mosaic trisomy 2 diagnosed at amniocentesis in an abnormal fetus and confirmed in multiple fetal tissues.
- Published in:
- Clinical Genetics, 1997, v. 51, n. 6, p. 417, doi. 10.1111/j.1399-0004.1997.tb02502.x
- By:
- Publication type:
- Article
CpG hotspot mutations at the LDL receptor locus are a frequent cause of familial hypercholesterolemia among South African Indians.
- Published in:
- Clinical Genetics, 1997, v. 51, n. 6, p. 394, doi. 10.1111/j.1399-0004.1997.tb02497.x
- By:
- Publication type:
- Article
Malignant hyperthermia susceptibility, an autosomal dominant disorder?
- Published in:
- Clinical Genetics, 1997, v. 51, n. 6, p. 365, doi. 10.1111/j.1399-0004.1997.tb02492.x
- By:
- Publication type:
- Article
A novel mutation M-21V in exon 1 of the low density lipoprotein receptor gene causing familial hypercholesterolemia.
- Published in:
- Clinical Genetics, 1997, v. 51, n. 6, p. 430, doi. 10.1111/j.1399-0004.1997.tb02505.x
- By:
- Publication type:
- Article
A case of Carpenter syndrome diagnosed in a 20-week-old fetus with postmortem examination.
- Published in:
- Clinical Genetics, 1997, v. 51, n. 6, p. 412, doi. 10.1111/j.1399-0004.1997.tb02501.x
- By:
- Publication type:
- Article
Extending the overlap of three congenital overgrowth syndromes.
- Published in:
- Clinical Genetics, 1997, v. 51, n. 6, p. 375, doi. 10.1111/j.1399-0004.1997.tb02494.x
- By:
- Publication type:
- Article
Photoanthropometric study of craniofacial traits in individuals with Williams syndrome.
- Published in:
- Clinical Genetics, 1997, v. 51, n. 6, p. 379, doi. 10.1111/j.1399-0004.1997.tb02495.x
- By:
- Publication type:
- Article