The fronto-ocular syndrome: second mother-daughter case.
- Published in:
- 2004
- By:
- Publication type:
- Letter
Works matching IS 00099163 AND DT 2004 AND VI 65 AND IP 6
Results: 16
1
2
Study of the WFS1 gene and mitochondrial DNA in Spanish Wolfram syndrome families.
- Published in:
- Clinical Genetics, 2004, v. 65, n. 6, p. 463, doi. 10.1111/j.1399-0004.2004.00249.x
- By:
- Publication type:
- Article
3
Single nucleotide polymorphism in CTH associated with variation in plasma homocysteine concentration.
- Published in:
- Clinical Genetics, 2004, v. 65, n. 6, p. 483, doi. 10.1111/j.1399-0004.2004.00250.x
- By:
- Publication type:
- Article
4
Genetic effect of two polymorphisms in the apolipoprotein A5 gene and apolipoprotein C3 gene on serum lipids and lipoproteins levels in a Chinese population.
- Published in:
- Clinical Genetics, 2004, v. 65, n. 6, p. 470, doi. 10.1111/j.1399-0004.2004.00251.x
- By:
- Publication type:
- Article
5
Genetic validation of β -secretase as a drug target for Alzheimer's Disease.
- Published in:
- 2004
- By:
- Publication type:
- Other
6
ARX mutation in a boy with transsphenoidal encephalocele and hypopituitarism.
- Published in:
- 2004
- By:
- Publication type:
- Letter
7
The long and short of it: C-type naturietic peptide as a novel therapy for achondroplasia?
- Published in:
- 2004
- By:
- Publication type:
- Other
8
Genetic discoveries identify novel treatments for achondroplasia and Alzheimer's disease and molecular basis of ethylmalonic encephalopathy.
- Published in:
- Clinical Genetics, 2004, v. 65, n. 6, p. 458, doi. 10.1111/j.0009-9163.2004.00257a.x
- By:
- Publication type:
- Article
9
A rare disorder, ethylmalonic encephalopathy, is caused by mutations in a mitochondrial protein.
- Published in:
- 2004
- By:
- Publication type:
- Other
10
Breaking symmetry: a clinical overview of left-right patterning.
- Published in:
- Clinical Genetics, 2004, v. 65, n. 6, p. 441, doi. 10.1111/j.0009-9163.2004.00258.x
- By:
- Publication type:
- Article
11
Mutation spectrum of the glucose-6-phosphatase gene and its implication in molecular diagnosis of Korean patients with glycogen storage disease type Ia.
- Published in:
- Clinical Genetics, 2004, v. 65, n. 6, p. 487, doi. 10.1111/j.1399-0004.2004.00260.x
- By:
- Publication type:
- Article
12
Prader–Willi syndrome resulting from an unbalanced translocation: characterization by array comparative genomic hybridization.
- Published in:
- Clinical Genetics, 2004, v. 65, n. 6, p. 477, doi. 10.1111/j.0009-9163.2004.00261.x
- By:
- Publication type:
- Article
13
Bronchiectasis in adult patients: an expression of heterozygosity for CFTR gene mutations?
- Published in:
- Clinical Genetics, 2004, v. 65, n. 6, p. 490, doi. 10.1111/j.0009-9163.2004.00265.x
- By:
- Publication type:
- Article
14
The frequency of GJB2 mutations and the Δ (GJB6-D13S1830) deletion as a cause of autosomal recessive non-syndromic deafness in the Kurdish population.
- Published in:
- 2004
- By:
- Publication type:
- Letter
15
Candidate genes for recessive non-syndromic mental retardation on chromosome 3p ( MRT2A).
- Published in:
- Clinical Genetics, 2004, v. 65, n. 6, p. 496, doi. 10.1111/j.0009-9163.2004.00267.x
- By:
- Publication type:
- Article
16
Incidental neurodevelopmental episodes in the etiology of schizophrenia: An expanded model involving epigenetics and development.
- Published in:
- Clinical Genetics, 2004, v. 65, n. 6, p. 435, doi. 10.1111/j.1399-0004.2004.00269.x
- By:
- Publication type:
- Article