De novo germline mutation in the serine–threonine kinase STK11/LKB1 gene associated with Peutz–Jeghers syndrome.
- Published in:
- Clinical Genetics, 2004, v. 66, n. 1, p. 58, doi. 10.1111/j.0009-9163.2004.00266.x
- By:
- Publication type:
- Article
Works matching IS 00099163 AND DT 2004 AND VI 66 AND IP 1
Results: 15
1
2
Association of parental consanguinity with congenital malformations among Arab newborns in Jerusalem.
- Published in:
- Clinical Genetics, 2004, v. 66, n. 1, p. 63, doi. 10.1111/j.0009-9163.2004.00264.x
- By:
- Publication type:
- Article
3
New options for prenatal diagnosis in autosomal recessive polycystic kidney disease by mutation analysis of the PKHD1 gene.
- Published in:
- Clinical Genetics, 2004, v. 66, n. 1, p. 53, doi. 10.1111/j.0009-9163.2004.00259.x
- By:
- Publication type:
- Article
4
Three new families with X-linked mental retardation caused by the 428–451dup(24bp) mutation in ARX.
- Published in:
- Clinical Genetics, 2004, v. 66, n. 1, p. 39, doi. 10.1111/j.0009-9163.2004.00268.x
- By:
- Publication type:
- Article
5
High frequency of subtelomeric rearrangements in a cohort of 92 patients with severe mental retardation and dysmorphism.
- Published in:
- Clinical Genetics, 2004, v. 66, n. 1, p. 30, doi. 10.1111/j.0009-9163.2004.00270.x
- By:
- Publication type:
- Article
6
Familial iridogoniodysgenesis and skeletal anomalies: a probable new autosomal recessive disorder.
- Published in:
- Clinical Genetics, 2004, v. 66, n. 1, p. 23, doi. 10.1111/j.0009-9163.2004.00271.x
- By:
- Publication type:
- Article
7
Molecular cytogenetic characterization of multiple intrachromosomal rearrangements of chromosome 2q in a patient with Waardenburg's syndrome and other congenital defects.
- Published in:
- Clinical Genetics, 2004, v. 66, n. 1, p. 46, doi. 10.1111/j.0009-9163.2004.00276.x
- By:
- Publication type:
- Article
8
Pseudodominant inheritance of spondylocostal dysostosis type 1 caused by two familial delta-like 3 mutations.
- Published in:
- Clinical Genetics, 2004, v. 66, n. 1, p. 67, doi. 10.1111/j.0009-9163.2004.00272.x
- By:
- Publication type:
- Article
9
A link between ALOX5AP and myocardial infarction and stroke.
- Published in:
- 2004
- By:
- Publication type:
- Other
10
Low Akt levels might underlie schizophrenia.
- Published in:
- 2004
- By:
- Publication type:
- Other
11
Localization of a novel locus for hereditary nail dysplasia to chromosome 17q25.1-17q25.3.
- Published in:
- Clinical Genetics, 2004, v. 66, n. 1, p. 73, doi. 10.1111/j.0009-9163.2004.00273.x
- By:
- Publication type:
- Article
12
Molecular evidence that AEC syndrome and Rapp–Hodgkin syndrome are variable expression of a single genetic disorder.
- Published in:
- 2004
- By:
- Publication type:
- Letter
13
Errata.
- Published in:
- 2004
- Publication type:
- Correction Notice
14
Cholesterol at the crossroads: Alzheimer's disease and lipid metabolism.
- Published in:
- Clinical Genetics, 2004, v. 66, n. 1, p. 1, doi. 10.1111/j.0009-9163.2004.00280.x
- By:
- Publication type:
- Article
15
Making sense out of nonsense: the role of nonsense-mediated decay in phenotypic variation.
- Published in:
- 2004
- By:
- Publication type:
- Other