Found: 24
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Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform.
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- European Journal of Human Genetics, 2015, v. 23, n. 3, p. 354, doi. 10.1038/ejhg.2014.92
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- Article
Comprehensive massive parallel DNA sequencing strategy for the genetic diagnosis of the neuro-cardio-facio-cutaneous syndromes.
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- European Journal of Human Genetics, 2015, v. 23, n. 3, p. 347, doi. 10.1038/ejhg.2014.97
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- Article
Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders.
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- European Journal of Human Genetics, 2015, v. 23, n. 3, p. 310, doi. 10.1038/ejhg.2014.112
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- Article
Role of TNF block genetic variants in HIV-associated sensory neuropathy in black Southern Africans.
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- European Journal of Human Genetics, 2015, v. 23, n. 3, p. 363, doi. 10.1038/ejhg.2014.104
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- Article
Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome.
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- European Journal of Human Genetics, 2015, v. 23, n. 3, p. 317, doi. 10.1038/ejhg.2014.115
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- Article
Impact on parents of HLA-DQ2/DQ8 genotyping in healthy children from coeliac families.
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- European Journal of Human Genetics, 2015, v. 23, n. 3, p. 405, doi. 10.1038/ejhg.2014.113
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- Article
Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP) - pure coincidence?
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- European Journal of Human Genetics, 2015, v. 23, n. 3, p. 409, doi. 10.1038/ejhg.2014.118
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- Article
Linking genotypes database with locus-specific database and genotype-phenotype correlation in phenylketonuria.
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- European Journal of Human Genetics, 2015, v. 23, n. 3, p. 302, doi. 10.1038/ejhg.2014.114
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- Article
Sandwich corrected standard errors in family-based genome-wide association studies.
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- European Journal of Human Genetics, 2015, v. 23, n. 3, p. 388, doi. 10.1038/ejhg.2014.94
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- Article
Improving accuracy of rare variant imputation with a two-step imputation approach.
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- European Journal of Human Genetics, 2015, v. 23, n. 3, p. 395, doi. 10.1038/ejhg.2014.91
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- Article
An exome sequencing strategy to diagnose lethal autosomal recessive disorders.
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- European Journal of Human Genetics, 2015, v. 23, n. 3, p. 401, doi. 10.1038/ejhg.2014.120
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- Article
Improved phylogenetic resolution and rapid diversification of Y-chromosome haplogroup K-M526 in Southeast Asia.
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- European Journal of Human Genetics, 2015, v. 23, n. 3, p. 369, doi. 10.1038/ejhg.2014.106
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- Article
A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability.
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- European Journal of Human Genetics, 2015, v. 23, n. 3, p. 331, doi. 10.1038/ejhg.2014.13
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- Article
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.
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- European Journal of Human Genetics, 2015, v. 23, n. 3, p. 292, doi. 10.1038/ejhg.2014.95
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- Article
A genome-wide association study identifies PLCL2 and AP3D1-DOT1L-SF3A2 as new susceptibility loci for myocardial infarction in Japanese.
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- European Journal of Human Genetics, 2015, v. 23, n. 3, p. 374, doi. 10.1038/ejhg.2014.110
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- Article
To disclose, or not to disclose? Context matters.
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- European Journal of Human Genetics, 2015, v. 23, n. 3, p. 279, doi. 10.1038/ejhg.2014.108
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- Article
Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis.
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- European Journal of Human Genetics, 2015, v. 23, n. 3, p. 337, doi. 10.1038/ejhg.2014.119
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- Article
Willingness to pay for genetic testing for inherited retinal disease.
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- European Journal of Human Genetics, 2015, v. 23, n. 3, p. 285, doi. 10.1038/ejhg.2014.111
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- Article
Birthday of a syndrome: 50 years anniversary of Smith-Lemli-Opitz Syndrome.
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- European Journal of Human Genetics, 2015, v. 23, n. 3, p. 277, doi. 10.1038/ejhg.2014.87
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- Article
Identifying genetic risk variants for coronary heart disease in familial hypercholesterolemia: an extreme genetics approach.
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- European Journal of Human Genetics, 2015, v. 23, n. 3, p. 381, doi. 10.1038/ejhg.2014.101
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- Article
Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion.
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- European Journal of Human Genetics, 2015, v. 23, n. 3, p. 325, doi. 10.1038/ejhg.2014.128
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- Article
Use of stereotypical mutational motifs to define resolution limits for the ultra-deep resequencing of mitochondrial DNA.
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- European Journal of Human Genetics, 2015, v. 23, n. 3, p. 413, doi. 10.1038/ejhg.2014.96
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- Article
Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population.
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- European Journal of Human Genetics, 2015, v. 23, n. 3, p. 342, doi. 10.1038/ejhg.2014.107
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- Article
A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability.
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- European Journal of Human Genetics, 2015, v. 23, n. 3, p. 416, doi. 10.1038/ejhg.2014.152
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- Article