Basilar impression and syringomyelia in a patient with tricho-rhino-phalangeal syndrome type I.
- Published in:
- Clinical Genetics, 1993, v. 43, n. 6, p. 324, doi. 10.1111/j.1399-0004.1993.tb03829.x
- By:
- Publication type:
- Article
Works matching IS 00099163 AND DT 1993 AND VI 43 AND IP 6
Results: 14
1
2
Announcement.
- Published in:
- Clinical Genetics, 1993, v. 43, n. 6, p. 328, doi. 10.1111/j.1399-0004.1993.tb03831.x
- Publication type:
- Article
3
PCR analysis of a three-allelic PvuII-RFLP at D4S127 closely linked to the Huntington disease locus.
- Published in:
- Clinical Genetics, 1993, v. 43, n. 6, p. 321, doi. 10.1111/j.1399-0004.1993.tb03828.x
- By:
- Publication type:
- Article
4
Marden-Walker syndrome: case report, literature review and nosologic discussion.
- Published in:
- Clinical Genetics, 1993, v. 43, n. 6, p. 303, doi. 10.1111/j.1399-0004.1993.tb03823.x
- By:
- Publication type:
- Article
5
Intrafamilial variability in the clinical expression of familial hypercholesterolemia: importance of risk factor determination for genetic counselling.
- Published in:
- Clinical Genetics, 1993, v. 43, n. 6, p. 295, doi. 10.1111/j.1399-0004.1993.tb03821.x
- By:
- Publication type:
- Article
6
Direct molecular diagnosis of myotonic dystrophy.
- Published in:
- Clinical Genetics, 1993, v. 43, n. 6, p. 276, doi. 10.1111/j.1399-0004.1993.tb03819.x
- By:
- Publication type:
- Article
7
A retrospective CISS hybridization analysis of a case with de novo translocation t(18;22) resulting in an 18p-syndrome.
- Published in:
- Clinical Genetics, 1993, v. 43, n. 6, p. 318, doi. 10.1111/j.1399-0004.1993.tb03827.x
- By:
- Publication type:
- Article
8
Myotonic dystrophy: from linkage with secretor status to mutation detection.
- Published in:
- Clinical Genetics, 1993, v. 43, n. 6, p. 273, doi. 10.1111/j.1399-0004.1993.tb03818.x
- By:
- Publication type:
- Article
9
DNA analysis of distinct populations suggests multiple origins for the mutation causing Huntington disease.
- Published in:
- Clinical Genetics, 1993, v. 43, n. 6, p. 286, doi. 10.1111/j.1399-0004.1993.tb03820.x
- By:
- Publication type:
- Article
10
Two siblings with mental retardation and progressive spasticity.
- Published in:
- Clinical Genetics, 1993, v. 43, n. 6, p. 312, doi. 10.1111/j.1399-0004.1993.tb03825.x
- By:
- Publication type:
- Article
11
Evidence of chromosome 9 origin of the euchromatic variant band within 9qh.
- Published in:
- Clinical Genetics, 1993, v. 43, n. 6, p. 309, doi. 10.1111/j.1399-0004.1993.tb03824.x
- By:
- Publication type:
- Article
12
Distal arthrogryposis with autosomal dominant inheritance and reduced penetrance in females: the Gordon syndrome.
- Published in:
- Clinical Genetics, 1993, v. 43, n. 6, p. 300, doi. 10.1111/j.1399-0004.1993.tb03822.x
- By:
- Publication type:
- Article
13
Inheritance of intrahepatic cholestasis of pregnancy in one kindred.
- Published in:
- Clinical Genetics, 1993, v. 43, n. 6, p. 315, doi. 10.1111/j.1399-0004.1993.tb03826.x
- By:
- Publication type:
- Article
14
Identical psychological profile and behaviour pattern in different types of mutation in the FMR-1 region.
- Published in:
- Clinical Genetics, 1993, v. 43, n. 6, p. 326, doi. 10.1111/j.1399-0004.1993.tb03830.x
- By:
- Publication type:
- Article