Towards an evidence-based process for the clinical interpretation of copy number variation.
- Published in:
- Clinical Genetics, 2012, v. 81, n. 5, p. 403, doi. 10.1111/j.1399-0004.2011.01818.x
- By:
- Publication type:
- Article
Works matching IS 00099163 AND DT 2012 AND VI 81 AND IP 5
Results: 17
1
2
Severe α-1 antitrypsin deficiency caused by Q0<sub>Ourém</sub> allele: clinical features, haplotype characterization and history.
- Published in:
- Clinical Genetics, 2012, v. 81, n. 5, p. 462, doi. 10.1111/j.1399-0004.2011.01670.x
- By:
- Publication type:
- Article
3
Mutations in the Mediator subunit MED23 link intellectual disability to immediate early gene regulation.
- Published in:
- Clinical Genetics, 2012, v. 81, n. 5, p. 430, doi. 10.1111/j.1399-0004.2011.01821.x
- By:
- Publication type:
- Article
4
Aicardi-Goutieres syndrome: from patients to genes and beyond.
- Published in:
- Clinical Genetics, 2012, v. 81, n. 5, p. 413, doi. 10.1111/j.1399-0004.2011.01825.x
- By:
- Publication type:
- Article
5
Spanish MYH7 founder mutation of Italian ancestry causing a large cluster of Laing myopathy patients.
- Published in:
- Clinical Genetics, 2012, v. 81, n. 5, p. 491, doi. 10.1111/j.1399-0004.2011.01667.x
- By:
- Publication type:
- Article
6
Fabry disease in children and response to enzyme replacement therapy: results from the Fabry Outcome Survey.
- Published in:
- Clinical Genetics, 2012, v. 81, n. 5, p. 485, doi. 10.1111/j.1399-0004.2011.01671.x
- By:
- Publication type:
- Article
7
The new Ghent criteria for Marfan syndrome: what do they change?
- Published in:
- Clinical Genetics, 2012, v. 81, n. 5, p. 433, doi. 10.1111/j.1399-0004.2011.01703.x
- By:
- Publication type:
- Article
8
Mucopolysaccharidosis I mutations in Chinese patients: identification of 27 novel mutations and 6 cases involving prenatal diagnosis.
- Published in:
- Clinical Genetics, 2012, v. 81, n. 5, p. 443, doi. 10.1111/j.1399-0004.2011.01680.x
- By:
- Publication type:
- Article
9
DFNB86, a novel autosomal recessive non-syndromic deafness locus on chromosome 16p13.3.
- Published in:
- Clinical Genetics, 2012, v. 81, n. 5, p. 498, doi. 10.1111/j.1399-0004.2011.01729.x
- By:
- Publication type:
- Article
10
A novel approach to the management and use of personal genome variants in clinical practice.
- Published in:
- Clinical Genetics, 2012, v. 81, n. 5, p. 431, doi. 10.1111/j.1399-0004.2011.01827.x
- By:
- Publication type:
- Article
11
A common tool for rare diseases.
- Published in:
- Clinical Genetics, 2012, v. 81, n. 5, p. 432, doi. 10.1111/j.1399-0004.2012.01867.x
- By:
- Publication type:
- Article
12
Functional characterization of the TSC2 c.3598C>T (p.R1200W) missense mutation that co-segregates with tuberous sclerosis complex in mildly affected kindreds.
- Published in:
- Clinical Genetics, 2012, v. 81, n. 5, p. 453, doi. 10.1111/j.1399-0004.2011.01648.x
- By:
- Publication type:
- Article
13
The introduction of a choice to learn pre-symptomatic DNA test results for BRCA or Lynch syndrome either face-to-face or by letter.
- Published in:
- Clinical Genetics, 2012, v. 81, n. 5, p. 421, doi. 10.1111/j.1399-0004.2011.01811.x
- By:
- Publication type:
- Article
14
Novel mutation in GLRB in a large family with hereditary hyperekplexia.
- Published in:
- Clinical Genetics, 2012, v. 81, n. 5, p. 479, doi. 10.1111/j.1399-0004.2011.01661.x
- By:
- Publication type:
- Article
15
Gaucher disease: a pyrosequencing frequency analysis of the N370S and L444P mutations in the Spanish population.
- Published in:
- Clinical Genetics, 2012, v. 81, n. 5, p. 495, doi. 10.1111/j.1399-0004.2011.01757.x
- By:
- Publication type:
- Article
16
Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood.
- Published in:
- Clinical Genetics, 2012, v. 81, n. 5, p. 470, doi. 10.1111/j.1399-0004.2011.01658.x
- By:
- Publication type:
- Article
17
Corrigendum.
- Published in:
- 2012
- Publication type:
- Erratum