Megalocornea, macrocephaly, mental and motor retardation (MMMM).
- Published in:
- Clinical Genetics, 1990, v. 38, n. 2, p. 149, doi. 10.1111/j.1399-0004.1990.tb03564.x
- By:
- Publication type:
- Article
Works matching IS 00099163 AND DT 1990 AND VI 38 AND IP 2
Results: 13
1
2
Spinal muscular atrophy type I combined with atrial septal defect in three sibs.
- Published in:
- Clinical Genetics, 1990, v. 38, n. 2, p. 81, doi. 10.1111/j.1399-0004.1990.tb03553.x
- By:
- Publication type:
- Article
3
Sporadic late onset ornithine transcarbamylase deficiency in a boy with somatic mosaicism for an intragenic deletion.
- Published in:
- Clinical Genetics, 1990, v. 38, n. 2, p. 155, doi. 10.1111/j.1399-0004.1990.tb03565.x
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- Publication type:
- Article
4
Disomic balanced reciprocal translocation.
- Published in:
- Clinical Genetics, 1990, v. 38, n. 2, p. 126, doi. 10.1111/j.1399-0004.1990.tb03560.x
- By:
- Publication type:
- Article
5
Partial trisomy 4p resulting from a balanced intrachromosomal insertion, 4(q313p14p16).
- Published in:
- Clinical Genetics, 1990, v. 38, n. 2, p. 121, doi. 10.1111/j.1399-0004.1990.tb03559.x
- By:
- Publication type:
- Article
6
Morphologic variants in parents of children with malformation syndromes: are they indicators of somatic mosaicism?
- Published in:
- Clinical Genetics, 1990, v. 38, n. 2, p. 114, doi. 10.1111/j.1399-0004.1990.tb03557.x
- By:
- Publication type:
- Article
7
Rhizomelic chondrodysplasia punctata and survival beyond one year: a review of the literature and five case reports.
- Published in:
- Clinical Genetics, 1990, v. 38, n. 2, p. 84, doi. 10.1111/j.1399-0004.1990.tb03554.x
- By:
- Publication type:
- Article
8
Exclusion mapping of 12 X-linked disease loci and 10 DNA probes from the long arm of the X-chromosome.
- Published in:
- Clinical Genetics, 1990, v. 38, n. 2, p. 94, doi. 10.1111/j.1399-0004.1990.tb03555.x
- By:
- Publication type:
- Article
9
Right-sided microtia and conductive hearing loss with variable expressivity in three generations.
- Published in:
- Clinical Genetics, 1990, v. 38, n. 2, p. 117, doi. 10.1111/j.1399-0004.1990.tb03558.x
- By:
- Publication type:
- Article
10
Incontinentia pigmenti: XXY male with a family history.
- Published in:
- Clinical Genetics, 1990, v. 38, n. 2, p. 128, doi. 10.1111/j.1399-0004.1990.tb03561.x
- By:
- Publication type:
- Article
11
The Proteus syndrome: association with nephrogenic diabetes insipidus.
- Published in:
- Clinical Genetics, 1990, v. 38, n. 2, p. 139, doi. 10.1111/j.1399-0004.1990.tb03562.x
- By:
- Publication type:
- Article
12
Heart-hand syndrome II. A report of Tabatznik syndrome with new findings.
- Published in:
- Clinical Genetics, 1990, v. 38, n. 2, p. 105, doi. 10.1111/j.1399-0004.1990.tb03556.x
- By:
- Publication type:
- Article
13
Congenital tracheal stenosis in Pfeiffer syndrome.
- Published in:
- Clinical Genetics, 1990, v. 38, n. 2, p. 145, doi. 10.1111/j.1399-0004.1990.tb03563.x
- By:
- Publication type:
- Article