Sanfilippo B syndrome (MPS III B): mild and severe forms within the same sibship.
- Published in:
- Clinical Genetics, 1979, v. 15, n. 6, p. 500, doi. 10.1111/j.1399-0004.1979.tb00832.x
- By:
- Publication type:
- Article
Works matching IS 00099163 AND DT 1979 AND VI 15 AND IP 6
Results: 15
1
2
International Svirmosium.
- Published in:
- Clinical Genetics, 1979, v. 15, n. 6, p. 544, doi. 10.1111/j.1399-0004.1979.tb00841.x
- Publication type:
- Article
3
Accessory small chromosomes in amniotic fluid cells.
- Published in:
- Clinical Genetics, 1979, v. 15, n. 6, p. 543, doi. 10.1111/j.1399-0004.1979.tb00840.x
- By:
- Publication type:
- Article
4
A pericentric inversion of chromosome 9 and a rearrangement involving chromosomes 9 and 10, observed in two generations. Clinical description of chromosome 9 (p12-p21) deletion syndrome.
- Published in:
- Clinical Genetics, 1979, v. 15, n. 6, p. 480, doi. 10.1111/j.1399-0004.1979.tb00829.x
- By:
- Publication type:
- Article
5
Satellite DNA loss and nucleolar organiser activity in an individual with a de novo chromosome 13,14 translocation.
- Published in:
- Clinical Genetics, 1979, v. 15, n. 6, p. 518, doi. 10.1111/j.1399-0004.1979.tb00836.x
- By:
- Publication type:
- Article
6
Prenatal diagnosis of thrombocytopenia with absent radii.
- Published in:
- Clinical Genetics, 1979, v. 15, n. 6, p. 495, doi. 10.1111/j.1399-0004.1979.tb00831.x
- By:
- Publication type:
- Article
7
Additions to the myotonic dystrophy linkage group.
- Published in:
- Clinical Genetics, 1979, v. 15, n. 6, p. 513, doi. 10.1111/j.1399-0004.1979.tb00835.x
- By:
- Publication type:
- Article
8
Impact of genetic counseling: A review of published follow-up studies.
- Published in:
- Clinical Genetics, 1979, v. 15, n. 6, p. 465, doi. 10.1111/j.1399-0004.1979.tb00827.x
- By:
- Publication type:
- Article
9
High alkaline phosphatase activity in isoproterenol stimulated fibroblast cultures from patients with numerically unbalanced chromosomal aberrations.
- Published in:
- Clinical Genetics, 1979, v. 15, n. 6, p. 487, doi. 10.1111/j.1399-0004.1979.tb00830.x
- By:
- Publication type:
- Article
10
A major locus for hyper-β-lipoproteinemia with xanthomatosis.
- Published in:
- Clinical Genetics, 1979, v. 15, n. 6, p. 530, doi. 10.1111/j.1399-0004.1979.tb00837.x
- By:
- Publication type:
- Article
11
Partial trisomy 1q due to tandem duplication.
- Published in:
- Clinical Genetics, 1979, v. 15, n. 6, p. 541, doi. 10.1111/j.1399-0004.1979.tb00839.x
- By:
- Publication type:
- Article
12
Partial trisomy 1q syndrome.
- Published in:
- Clinical Genetics, 1979, v. 15, n. 6, p. 534, doi. 10.1111/j.1399-0004.1979.tb00838.x
- By:
- Publication type:
- Article
13
Chromosomes in retinoblastoma patients.
- Published in:
- Clinical Genetics, 1979, v. 15, n. 6, p. 505, doi. 10.1111/j.1399-0004.1979.tb00833.x
- By:
- Publication type:
- Article
14
Dizygosity of discordant twins with Noonan syndrome.
- Published in:
- Clinical Genetics, 1979, v. 15, n. 6, p. 509, doi. 10.1111/j.1399-0004.1979.tb00834.x
- By:
- Publication type:
- Article
15
Lyon phenomenon in ouabain-treated erythrocytes of Duchenne muscular dystrophy carriers as revealed by cell electrophoresis.
- Published in:
- Clinical Genetics, 1979, v. 15, n. 6, p. 475, doi. 10.1111/j.1399-0004.1979.tb00828.x
- By:
- Publication type:
- Article