Familial mosaic Turner syndrome.
- Published in:
- Clinical Genetics, 1994, v. 46, n. 5, p. 382, doi. 10.1111/j.1399-0004.1994.tb04185.x
- By:
- Publication type:
- Article
Works matching IS 00099163 AND DT 1994 AND VI 46 AND IP 5
Results: 14
1
2
Short tarsus - absence of lower eyelashes: an autosomal dominant condition.
- Published in:
- Clinical Genetics, 1994, v. 46, n. 5, p. 344, doi. 10.1111/j.1399-0004.1994.tb04175.x
- By:
- Publication type:
- Article
3
Ambral syndrome and congenital generalized hypertrichosis.
- Published in:
- Clinical Genetics, 1994, v. 46, n. 5, p. 384, doi. 10.1111/j.1399-0004.1994.tb04186.x
- By:
- Publication type:
- Article
4
A de novo 6q11-q15 duplication investigated by chromosome painting.
- Published in:
- Clinical Genetics, 1994, v. 46, n. 5, p. 377, doi. 10.1111/j.1399-0004.1994.tb04183.x
- By:
- Publication type:
- Article
5
Antley-Bixler syndrome: report of a patient and review of literature.
- Published in:
- Clinical Genetics, 1994, v. 46, n. 5, p. 372, doi. 10.1111/j.1399-0004.1994.tb04182.x
- By:
- Publication type:
- Article
6
Familial translocation (X;3) (p22.3;p23): chromosomal in situ suppression (CISS) hybridization and inactivation pattern study.
- Published in:
- Clinical Genetics, 1994, v. 46, n. 5, p. 360, doi. 10.1111/j.1399-0004.1994.tb04179.x
- By:
- Publication type:
- Article
7
Identification of a non-fluorescent isodicentric Y chromosome by molecular cytogenetic techniques.
- Published in:
- Clinical Genetics, 1994, v. 46, n. 5, p. 364, doi. 10.1111/j.1399-0004.1994.tb04180.x
- By:
- Publication type:
- Article
8
Molecular characterisation of an Italian G6PD variant responsible for chronic non-spherocytic haemolytic anaemia.
- Published in:
- Clinical Genetics, 1994, v. 46, n. 5, p. 357, doi. 10.1111/j.1399-0004.1994.tb04178.x
- By:
- Publication type:
- Article
9
Patient with de novo 12p+ syndrome identified as dir dup (12) (p13) using subchromosomal painting libraries from somatic cell hybrids.
- Published in:
- Clinical Genetics, 1994, v. 46, n. 5, p. 368, doi. 10.1111/j.1399-0004.1994.tb04181.x
- By:
- Publication type:
- Article
10
Prenatal sex determination by in situ hybridization on fetal nucleated cells in maternal whole venous blood.
- Published in:
- Clinical Genetics, 1994, v. 46, n. 5, p. 352, doi. 10.1111/j.1399-0004.1994.tb04177.x
- By:
- Publication type:
- Article
11
New allele of probe D17S61 present in the Charcot-Marie-Tooth 1A duplication.
- Published in:
- Clinical Genetics, 1994, v. 46, n. 5, p. 380, doi. 10.1111/j.1399-0004.1994.tb04184.x
- By:
- Publication type:
- Article
12
A stigmatizing effect of the carrier status for cystic fibrosis?
- Published in:
- Clinical Genetics, 1994, v. 46, n. 5, p. 336, doi. 10.1111/j.1399-0004.1994.tb04174.x
- By:
- Publication type:
- Article
13
An epidemiological/genetic study of mental subnormality in Assiut Governorate, Egypt.
- Published in:
- Clinical Genetics, 1994, v. 46, n. 5, p. 347, doi. 10.1111/j.1399-0004.1994.tb04176.x
- By:
- Publication type:
- Article
14
Etiological subgroups in non-syndromic isolated cleft palate. A genetic-epidemiological study of 52 Danish birth cohorts.
- Published in:
- Clinical Genetics, 1994, v. 46, n. 5, p. 329, doi. 10.1111/j.1399-0004.1994.tb04173.x
- By:
- Publication type:
- Article