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Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis.
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- European Journal of Human Genetics, 2012, v. 20, n. 6, p. 598, doi. 10.1038/ejhg.2011.269
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- Article
A large duplication involving the IHH locus mimics acrocallosal syndrome.
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- European Journal of Human Genetics, 2012, v. 20, n. 6, p. 639, doi. 10.1038/ejhg.2011.250
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- Article
Impact of diagnostic misclassification on estimation of genetic correlations using genome-wide genotypes.
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- European Journal of Human Genetics, 2012, v. 20, n. 6, p. 668, doi. 10.1038/ejhg.2011.257
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- Article
Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly.
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- European Journal of Human Genetics, 2012, v. 20, n. 6, p. 705, doi. 10.1038/ejhg.2011.264
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- Article
Clinical utility gene card for: Nemaline myopathy.
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- European Journal of Human Genetics, 2012, v. 20, n. 6, p. 1, doi. 10.1038/ejhg.2012.70
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- Article
Myotubular myopathy caused by multiple abnormal splicing variants in the MTM1 RNA in a patient with a mild phenotype.
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- European Journal of Human Genetics, 2012, v. 20, n. 6, p. 701, doi. 10.1038/ejhg.2011.256
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- Article
Clinical utility gene card for: proximal spinal muscular atrophy.
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- European Journal of Human Genetics, 2012, v. 20, n. 6, p. 1, doi. 10.1038/ejhg.2012.62
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- Article
Questionable pathogenicity of FOXG1 duplication.
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- European Journal of Human Genetics, 2012, v. 20, n. 6, p. 595, doi. 10.1038/ejhg.2011.267
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- Article
A genome-wide study reveals rare CNVs exclusive to extreme phenotypes of Alzheimer disease.
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- European Journal of Human Genetics, 2012, v. 20, n. 6, p. 613, doi. 10.1038/ejhg.2011.225
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- Article
The 12S rRNA A1555G mutation in the mitochondrial haplogroup D5a is responsible for maternally inherited hypertension and hearing loss in two Chinese pedigrees.
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- European Journal of Human Genetics, 2012, v. 20, n. 6, p. 607, doi. 10.1038/ejhg.2011.259
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- Article
Clinical utility gene card for: Alport syndrome.
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- European Journal of Human Genetics, 2012, v. 20, n. 6, p. 1, doi. 10.1038/ejhg.2011.237
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- Article
Characterization of mtDNA variation in a cohort of South African paediatric patients with mitochondrial disease.
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- European Journal of Human Genetics, 2012, v. 20, n. 6, p. 650, doi. 10.1038/ejhg.2011.262
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- Article
A two-stage association study identifies methyl-CpG-binding domain protein 2 gene polymorphisms as candidates for breast cancer susceptibility.
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- European Journal of Human Genetics, 2012, v. 20, n. 6, p. 682, doi. 10.1038/ejhg.2011.273
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- Article
Codon 72 polymorphism (rs1042522) of TP53 is associated with changes in diastolic blood pressure over time.
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- European Journal of Human Genetics, 2012, v. 20, n. 6, p. 696, doi. 10.1038/ejhg.2011.240
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- Article
Association of TCF4 and CLU polymorphisms with Fuchs' endothelial dystrophy and implication of CLU and TGFBI proteins in the disease process.
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- European Journal of Human Genetics, 2012, v. 20, n. 6, p. 632, doi. 10.1038/ejhg.2011.248
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- Article
Phenotype-specific adverse effects of XPD mutations on human prenatal development implicate impairment of TFIIH-mediated functions in placenta.
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- European Journal of Human Genetics, 2012, v. 20, n. 6, p. 626, doi. 10.1038/ejhg.2011.249
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- Article
Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndrome.
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- European Journal of Human Genetics, 2012, v. 20, n. 6, p. 618, doi. 10.1038/ejhg.2011.275
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- Article
An evaluation of different meta-analysis approaches in the presence of allelic heterogeneity.
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- European Journal of Human Genetics, 2012, v. 20, n. 6, p. 709, doi. 10.1038/ejhg.2011.274
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- Article
Imaging genetics of FOXP2 in dyslexia.
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- European Journal of Human Genetics, 2012, v. 20, n. 6, p. 714, doi. 10.1038/ejhg.2012.31
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- Article
KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations.
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- European Journal of Human Genetics, 2012, v. 20, n. 6, p. 645, doi. 10.1038/ejhg.2011.261
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Reply to Amor et al.
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- European Journal of Human Genetics, 2012, v. 20, n. 6, p. 597, doi. 10.1038/ejhg.2011.270
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- Article
Consanguinity in Centre d'Étude du Polymorphisme Humain (CEPH) pedigrees.
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- European Journal of Human Genetics, 2012, v. 20, n. 6, p. 657, doi. 10.1038/ejhg.2011.266
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- Article
A major locus on chromosome 3p22 conferring predisposition to human herpesvirus 8 infection.
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- European Journal of Human Genetics, 2012, v. 20, n. 6, p. 690, doi. 10.1038/ejhg.2011.260
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- Article
Single-nucleotide polymorphisms in the P2X7 receptor gene are associated with post-menopausal bone loss and vertebral fractures.
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- European Journal of Human Genetics, 2012, v. 20, n. 6, p. 675, doi. 10.1038/ejhg.2011.253
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- Article