Found: 16
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PRRX1 is mutated in a fetus with agnathia-otocephaly.
- Published in:
- Clinical Genetics, 2011, v. 79, n. 3, p. 293, doi. 10.1111/j.1399-0004.2010.01531.x
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- Article
Evolutionary evidence of the effect of rare variants on disease etiology.
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- Clinical Genetics, 2011, v. 79, n. 3, p. 199, doi. 10.1111/j.1399-0004.2010.01535.x
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- Article
Twenty-five novel mutations including duplications in the ATP7A gene.
- Published in:
- Clinical Genetics, 2011, v. 79, n. 3, p. 243, doi. 10.1111/j.1399-0004.2010.01461.x
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- Article
Mutations in a novel cilia-centrosome protein cause a cystic kidney disease associated with retinal degeneration.
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- Clinical Genetics, 2011, v. 79, n. 3, p. 222, doi. 10.1111/j.1399-0004.2010.01612.x
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- Article
Response to Satgé and Vekemans.
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- Clinical Genetics, 2011, v. 79, n. 3, p. 291, doi. 10.1111/j.1399-0004.2010.01520.x
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- Article
Functional analysis of splicing mutations in MYO7A and USH2A genes.
- Published in:
- Clinical Genetics, 2011, v. 79, n. 3, p. 282, doi. 10.1111/j.1399-0004.2010.01454.x
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- Article
RUNX2 analysis of Danish cleidocranial dysplasia families.
- Published in:
- Clinical Genetics, 2011, v. 79, n. 3, p. 254, doi. 10.1111/j.1399-0004.2010.01458.x
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- Article
Duchenne/Becker muscular dystrophy in the family: have potential carriers been tested at a molecular level?
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- Clinical Genetics, 2011, v. 79, n. 3, p. 236, doi. 10.1111/j.1399-0004.2010.01579.x
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- Article
Disturbances in endocannabinoid metabolism causes autosomal recessive neurodegeneration.
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- Clinical Genetics, 2011, v. 79, n. 3, p. 221, doi. 10.1111/j.1399-0004.2010.01611.x
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- Article
Perceiving cancer-risks and heredity-likelihood in genetic-counseling: how counselees recall and interpret BRCA 1/2-test results.
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- Clinical Genetics, 2011, v. 79, n. 3, p. 207, doi. 10.1111/j.1399-0004.2010.01581.x
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- Article
Clinical features and X-inactivation in females heterozygous for creatine transporter defect.
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- Clinical Genetics, 2011, v. 79, n. 3, p. 264, doi. 10.1111/j.1399-0004.2010.01460.x
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- Article
Mutations in NMDA receptors influence neurodevelopmental disorders causing epilepsy and intellectual disability.
- Published in:
- Clinical Genetics, 2011, v. 79, n. 3, p. 219, doi. 10.1111/j.1399-0004.2010.01610.x
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- Article
The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males.
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- Clinical Genetics, 2011, v. 79, n. 3, p. 225, doi. 10.1111/j.1399-0004.2010.01551.x
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- Article
Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly.
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- Clinical Genetics, 2011, v. 79, n. 3, p. 296, doi. 10.1111/j.1399-0004.2010.01544.x
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- Article
Down syndrome patients are less likely to develop some (but not all) malignant solid tumours.
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- Clinical Genetics, 2011, v. 79, n. 3, p. 289, doi. 10.1111/j.1399-0004.2010.01521.x
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- Article
Digenic inheritance of an autosomal recessive hypotrichosis in two consanguineous pedigrees.
- Published in:
- Clinical Genetics, 2011, v. 79, n. 3, p. 273, doi. 10.1111/j.1399-0004.2010.01455.x
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- Publication type:
- Article