Schizophrenia in a patient with subtelomeric duplication of chromosome 22q.
- Published in:
- 2007
- By:
- Publication type:
- Letter
Works matching IS 00099163 AND DT 2007 AND VI 71 AND IP 6
Results: 17
1
2
The position of the mutation within the LMNA gene determines the type and extent of tissue involvement in laminopathies.
- Published in:
- 2007
- By:
- Publication type:
- Letter
3
Isolated cystinuria (OMIM 238200) is not a separate entity but is caused by a mutation in the cystinuria gene SLC7A9.
- Published in:
- 2007
- By:
- Publication type:
- Letter
4
Abnormal brain structure in adults with Van der Woude syndrome.
- Published in:
- Clinical Genetics, 2007, v. 71, n. 6, p. 511, doi. 10.1111/j.1399-0004.2007.00799.x
- By:
- Publication type:
- Article
5
Constitutive deficiency in DNA mismatch repair: is it time for Lynch III?
- Published in:
- Clinical Genetics, 2007, v. 71, n. 6, p. 499, doi. 10.1111/j.1399-0004.2007.00801.x
- By:
- Publication type:
- Article
6
Glucose metabolism and insulin secretion in a patient with ABCC8 mutation and Fanconi–Bickel syndrome caused by maternal isodisomy of chromosome 3.
- Published in:
- Clinical Genetics, 2007, v. 71, n. 6, p. 551, doi. 10.1111/j.1399-0004.2007.00802.x
- By:
- Publication type:
- Article
7
Constitutive deficiency in DNA mismatch repair.
- Published in:
- Clinical Genetics, 2007, v. 71, n. 6, p. 483, doi. 10.1111/j.1399-0004.2007.00803.x
- By:
- Publication type:
- Article
8
A genome-wide linkage scan for iron phenotype quantitative trait loci: the HEIRS Family Study.
- Published in:
- Clinical Genetics, 2007, v. 71, n. 6, p. 518, doi. 10.1111/j.1399-0004.2007.00804.x
- By:
- Publication type:
- Article
9
Aplasia cutis congenita, congenital heart lesions, and frontonasal cysts in four successive generations.
- Published in:
- Clinical Genetics, 2007, v. 71, n. 6, p. 558, doi. 10.1111/j.1399-0004.2007.00806.x
- By:
- Publication type:
- Article
10
Multiplex ARMS analysis to detect 13 common mutations in familial hypercholesterolaemia.
- Published in:
- Clinical Genetics, 2007, v. 71, n. 6, p. 561, doi. 10.1111/j.1399-0004.2007.00807.x
- By:
- Publication type:
- Article
11
Assessment of the prevalence of the 985A>G MCAD mutation in the French-Canadian population using allele-specific PCR.
- Published in:
- Clinical Genetics, 2007, v. 71, n. 6, p. 569, doi. 10.1111/j.1399-0004.2007.00809.x
- By:
- Publication type:
- Article
12
Genetic testing for heart disease susceptibility: potential impact on motivation to quit smoking.
- Published in:
- Clinical Genetics, 2007, v. 71, n. 6, p. 501, doi. 10.1111/j.1399-0004.2007.00810.x
- By:
- Publication type:
- Article
13
Imiglucerase (Cerezyme<sup>®</sup>) improves quality of life in patients with skeletal manifestations of Gaucher disease.
- Published in:
- Clinical Genetics, 2007, v. 71, n. 6, p. 576, doi. 10.1111/j.1399-0004.2007.00811.x
- By:
- Publication type:
- Article
14
The presence of germ line mosaicism in cleidocranial dysplasia.
- Published in:
- Clinical Genetics, 2007, v. 71, n. 6, p. 589, doi. 10.1111/j.1399-0004.2007.00812.x
- By:
- Publication type:
- Article
15
Spectrum of mutations and variants/haplotypes of CFTR and genotype–phenotype correlation in idiopathic chronic pancreatitis and controls in Chinese by complete analysis.
- Published in:
- Clinical Genetics, 2007, v. 71, n. 6, p. 530, doi. 10.1111/j.1399-0004.2007.00813.x
- By:
- Publication type:
- Article
16
Gender, genotype, and phenotype differences in Smith–Magenis syndrome: a meta-analysis of 105 cases.
- Published in:
- Clinical Genetics, 2007, v. 71, n. 6, p. 540, doi. 10.1111/j.1399-0004.2007.00815.x
- By:
- Publication type:
- Article
17
Response to Landires et al.
- Published in:
- Clinical Genetics, 2007, v. 71, n. 6, p. 594, doi. 10.1111/j.1399-0004.2007.00826.x
- By:
- Publication type:
- Article