Localization of a novel autosomal recessive hypotrichosis locus (LAH3) to chromosome 13q14.11–q21.32.
- Published in:
- Clinical Genetics, 2007, v. 72, n. 1, p. 23, doi. 10.1111/j.1399-0004.2007.00818.x
- By:
- Publication type:
- Article
Works matching IS 00099163 AND DT 2007 AND VI 72 AND IP 1
Results: 10
1
2
Executive functioning in children and adolescents with phenylketonuria.
- Published in:
- Clinical Genetics, 2007, v. 72, n. 1, p. 13, doi. 10.1111/j.1399-0004.2007.00816.x
- By:
- Publication type:
- Article
3
Development of cortical GABAergic circuits and its implications for neurodevelopmental disorders.
- Published in:
- Clinical Genetics, 2007, v. 72, n. 1, p. 1, doi. 10.1111/j.1399-0004.2007.00822.x
- By:
- Publication type:
- Article
4
Large deletions in the CFTR gene: clinics and genetics in Swiss patients with CF.
- Published in:
- Clinical Genetics, 2007, v. 72, n. 1, p. 30, doi. 10.1111/j.1399-0004.2007.00820.x
- By:
- Publication type:
- Article
5
Exclusive cardiac dysfunction in familial primary carnitine deficiency cases: a genotype–phenotype correlation.
- Published in:
- 2007
- By:
- Publication type:
- Letter
6
Cognition genes on autosomes: the paradox.
- Published in:
- Clinical Genetics, 2007, v. 72, n. 1, p. 9, doi. 10.1111/j.1399-0004.2007.00823.x
- By:
- Publication type:
- Article
7
A novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palate.
- Published in:
- Clinical Genetics, 2007, v. 72, n. 1, p. 19, doi. 10.1111/j.1399-0004.2007.00817.x
- By:
- Publication type:
- Article
8
17p11.2p12 triplication and del(17)q11.2q12 in a severely affected child with dup(17)p11.2p12 syndrome.
- Published in:
- Clinical Genetics, 2007, v. 72, n. 1, p. 47, doi. 10.1111/j.1399-0004.2007.00831.x
- By:
- Publication type:
- Article
9
Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations.
- Published in:
- 2007
- By:
- Publication type:
- Letter
10
Does cystic fibrosis neonatal screening detect atypical CF forms? Extended genetic characterization and 4-year clinical follow-up.
- Published in:
- Clinical Genetics, 2007, v. 72, n. 1, p. 39, doi. 10.1111/j.1399-0004.2007.00825.x
- By:
- Publication type:
- Article