Works matching IS 10184813 AND DT 2013 AND VI 21 AND IP 2
Results: 19
Inherited ichthyoses/generalized Mendelian disorders of cornification.
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- European Journal of Human Genetics, 2013, v. 21, n. 2, p. 123, doi. 10.1038/ejhg.2012.121
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Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities.
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- European Journal of Human Genetics, 2013, v. 21, n. 2, p. 173, doi. 10.1038/ejhg.2012.155
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NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications.
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- European Journal of Human Genetics, 2013, v. 21, n. 2, p. 195, doi. 10.1038/ejhg.2012.140
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Personalized medicine and access to health care: potential for inequitable access?
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- European Journal of Human Genetics, 2013, v. 21, n. 2, p. 143, doi. 10.1038/ejhg.2012.149
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- Article
Smoothed functional principal component analysis for testing association of the entire allelic spectrum of genetic variation.
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- European Journal of Human Genetics, 2013, v. 21, n. 2, p. 217, doi. 10.1038/ejhg.2012.141
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A unique MSH2 exon 8 deletion accounts for a major portion of all mismatch repair gene mutations in Lynch syndrome families of Sardinian origin.
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- European Journal of Human Genetics, 2013, v. 21, n. 2, p. 154, doi. 10.1038/ejhg.2012.150
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Atrioventricular canal defect in patients with RASopathies.
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- European Journal of Human Genetics, 2013, v. 21, n. 2, p. 200, doi. 10.1038/ejhg.2012.145
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- Article
Genetic analysis of SIGMAR1 as a cause of familial ALS with dementia.
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- European Journal of Human Genetics, 2013, v. 21, n. 2, p. 237, doi. 10.1038/ejhg.2012.135
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- Article
A novel LRSAM1 mutation is associated with autosomal dominant axonal Charcot-Marie-Tooth disease.
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- European Journal of Human Genetics, 2013, v. 21, n. 2, p. 190, doi. 10.1038/ejhg.2012.146
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- Article
Genetic investigation of FOXO3A requires special attention due to sequence homology with FOXO3B.
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- European Journal of Human Genetics, 2013, v. 21, n. 2, p. 240, doi. 10.1038/ejhg.2012.83
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16p11.2-p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2.
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- European Journal of Human Genetics, 2013, v. 21, n. 2, p. 182, doi. 10.1038/ejhg.2012.144
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RNA-Seq and human complex diseases: recent accomplishments and future perspectives.
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- European Journal of Human Genetics, 2013, v. 21, n. 2, p. 134, doi. 10.1038/ejhg.2012.129
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When access is an issue: exploring barriers to predictive testing for Huntington disease in British Columbia, Canada.
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- European Journal of Human Genetics, 2013, v. 21, n. 2, p. 148, doi. 10.1038/ejhg.2012.147
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Ehlers-Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features.
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- European Journal of Human Genetics, 2013, v. 21, n. 2, p. 233, doi. 10.1038/ejhg.2012.132
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Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies.
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- European Journal of Human Genetics, 2013, v. 21, n. 2, p. 162, doi. 10.1038/ejhg.2012.139
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- Article
TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype.
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- European Journal of Human Genetics, 2013, v. 21, n. 2, p. 229, doi. 10.1038/ejhg.2012.79
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- Article
A newly identified locus for benign adult familial myoclonic epilepsy on chromosome 3q26.32-3q28.
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- European Journal of Human Genetics, 2013, v. 21, n. 2, p. 225, doi. 10.1038/ejhg.2012.133
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Using identity by descent estimation with dense genotype data to detect positive selection.
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- European Journal of Human Genetics, 2013, v. 21, n. 2, p. 205, doi. 10.1038/ejhg.2012.148
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- Article
Haplotype analysis of the 185delAG BRCA1 mutation in ethnically diverse populations.
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- European Journal of Human Genetics, 2013, v. 21, n. 2, p. 212, doi. 10.1038/ejhg.2012.124
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- Article