CCMG statement on gene patents.
- Published in:
- Clinical Genetics, 2012, v. 82, n. 5, p. 405, doi. 10.1111/cge.12009
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- Publication type:
- Article
Works matching IS 00099163 AND DT 2012 AND VI 82 AND IP 5
Results: 17
1
2
Novel ZFPM2/FOG2 variants in patients with double outlet right ventricle.
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- Clinical Genetics, 2012, v. 82, n. 5, p. 466, doi. 10.1111/j.1399-0004.2011.01787.x
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- Publication type:
- Article
3
A novel deletion in ZBTB24 in a Lebanese family with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.
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- Clinical Genetics, 2012, v. 82, n. 5, p. 489, doi. 10.1111/j.1399-0004.2011.01783.x
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- Publication type:
- Article
4
Audiological findings in 100 USH2 patients.
- Published in:
- Clinical Genetics, 2012, v. 82, n. 5, p. 433, doi. 10.1111/j.1399-0004.2011.01772.x
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- Publication type:
- Article
5
A novel frameshift mutation of the GLI3 gene in a family with broad thumbs with/without big toes, postaxial polydactyly and variable syndactyly of the hands/feet.
- Published in:
- Clinical Genetics, 2012, v. 82, n. 5, p. 502, doi. 10.1111/j.1399-0004.2012.01866.x
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- Publication type:
- Article
6
Silver-Russell syndrome due to maternal uniparental disomy 7 and a familial reciprocal translocation t(7;13).
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- Clinical Genetics, 2012, v. 82, n. 5, p. 494, doi. 10.1111/j.1399-0004.2011.01792.x
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- Publication type:
- Article
7
BRCA1 and BRCA2 mutations among familial breast cancer patients from Costa Rica.
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- Clinical Genetics, 2012, v. 82, n. 5, p. 484, doi. 10.1111/j.1399-0004.2011.01774.x
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- Publication type:
- Article
8
Novel p.M96T variant of NRL and shRNA-based suppression and replacement of NRL mutants associated with autosomal dominant retinitis pigmentosa.
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- Clinical Genetics, 2012, v. 82, n. 5, p. 446, doi. 10.1111/j.1399-0004.2011.01796.x
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- Publication type:
- Article
9
MEF2C mutations are a rare cause of Rett or severe Rett-like encephalopathies.
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- Clinical Genetics, 2012, v. 82, n. 5, p. 499, doi. 10.1111/j.1399-0004.2012.01861.x
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- Publication type:
- Article
10
BRCA1/2 testing: uptake, phenocopies, and strategies to improve detection rates in initially negative families.
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- Clinical Genetics, 2012, v. 82, n. 5, p. 478, doi. 10.1111/j.1399-0004.2011.01788.x
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- Publication type:
- Article
11
Impact of colonoscopic screening in male and female Lynch syndrome carriers with an MSH2 mutation.
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- Clinical Genetics, 2012, v. 82, n. 5, p. 439, doi. 10.1111/j.1399-0004.2011.01802.x
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- Publication type:
- Article
12
Effects of informed consent for individual genome sequencing on relevant knowledge.
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- Clinical Genetics, 2012, v. 82, n. 5, p. 408, doi. 10.1111/j.1399-0004.2012.01909.x
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- Publication type:
- Article
13
Genetic testing and screening of individuals at risk of NF2.
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- Clinical Genetics, 2012, v. 82, n. 5, p. 416, doi. 10.1111/j.1399-0004.2011.01816.x
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- Publication type:
- Article
14
A prevalent founder mutation and genotype-phenotype correlations of OTOF in Japanese patients with auditory neuropathy.
- Published in:
- Clinical Genetics, 2012, v. 82, n. 5, p. 425, doi. 10.1111/j.1399-0004.2012.01897.x
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- Publication type:
- Article
15
Deficiency of CRTAP in non-lethal recessive osteogenesis imperfecta reduces collagen deposition into matrix.
- Published in:
- Clinical Genetics, 2012, v. 82, n. 5, p. 453, doi. 10.1111/j.1399-0004.2011.01794.x
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- Publication type:
- Article
16
Facial asymmetry and clinical manifestations in patients with novel insertion of the TCOF1 gene.
- Published in:
- Clinical Genetics, 2012, v. 82, n. 5, p. 460, doi. 10.1111/j.1399-0004.2011.01765.x
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- Publication type:
- Article
17
Quantitative measurement of FMRP in blood platelets as a new screening test for fragile X syndrome.
- Published in:
- Clinical Genetics, 2012, v. 82, n. 5, p. 472, doi. 10.1111/j.1399-0004.2011.01798.x
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- Publication type:
- Article