Works matching IS 10184813 AND DT 2015 AND VI 23 AND IP 10
Results: 31
Interleukin-37 gene variants segregated anciently coexist during hominid evolution.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1392, doi. 10.1038/ejhg.2014.302
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- Article
Compound heterozygosity for KLF1 mutations is associated with microcytic hypochromic anemia and increased fetal hemoglobin.
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- European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1341, doi. 10.1038/ejhg.2014.291
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Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia.
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- European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1427, doi. 10.1038/ejhg.2014.297
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Mitochondrial genome diversity at the Bering Strait area highlights prehistoric human migrations from Siberia to northern North America.
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- European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1399, doi. 10.1038/ejhg.2014.286
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- Article
Genome-wide inbreeding estimation within Lebanese communities using SNP arrays.
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- European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1434, doi. 10.1038/ejhg.2015.17
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Clinical utility gene card for: Arterial tortuosity syndrome.
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- European Journal of Human Genetics, 2015, v. 23, n. 10, p. -1, doi. 10.1038/ejhg.2014.294
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Clinical utility gene card for: ALG1 defective congenital disorder of glycosylation.
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- European Journal of Human Genetics, 2015, v. 23, n. 10, p. -1, doi. 10.1038/ejhg.2014.146
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Genomic cloud computing: legal and ethical points to consider.
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- European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1271, doi. 10.1038/ejhg.2014.196
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- Article
Intelligence: shared genetic basis between Mendelian disorders and a polygenic trait.
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- European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1378, doi. 10.1038/ejhg.2015.3
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- Article
RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement.
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- European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1301, doi. 10.1038/ejhg.2014.293
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- Article
Clinical Utility Gene Card for: Fibrodysplasia ossificans progressiva.
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- European Journal of Human Genetics, 2015, v. 23, n. 10, p. -1, doi. 10.1038/ejhg.2014.274
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Evaluation and Treatment of Myopathies.
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- European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1433, doi. 10.1038/ejhg.2015.127
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- Article
The phenotype of congenital insensitivity to pain due to the Na<sub>V</sub>1.9 variant p.L811P.
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- European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1434, doi. 10.1038/ejhg.2015.163
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- Article
Genome-wide inbreeding estimation within Lebanese communities using SNP arrays.
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- European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1364, doi. 10.1038/ejhg.2014.246
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- Article
Redefining the MED13L syndrome.
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- European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1308, doi. 10.1038/ejhg.2015.26
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- Article
Where is the causal variant? On the advantage of the family design over the case-control design in genetic association studies.
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- European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1357, doi. 10.1038/ejhg.2014.284
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A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.
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- European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1318, doi. 10.1038/ejhg.2014.283
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- Article
Rare variants in β-Amyloid precursor protein (APP) and Parkinson's disease.
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- European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1328, doi. 10.1038/ejhg.2014.300
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- Article
Clinical utility gene card for: Cornelia de Lange syndrome.
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- European Journal of Human Genetics, 2015, v. 23, n. 10, p. -1, doi. 10.1038/ejhg.2014.270
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Y-chromosome descent clusters and male differential reproductive success: young lineage expansions dominate Asian pastoral nomadic populations.
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- European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1413, doi. 10.1038/ejhg.2014.285
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A mixed methods study of age at diagnosis and diagnostic odyssey for Duchenne muscular dystrophy.
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- European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1294, doi. 10.1038/ejhg.2014.301
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New insights into the genetics of X-linked dystonia-parkinsonism (XDP, DYT3).
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- European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1334, doi. 10.1038/ejhg.2014.292
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- Article
Extensive genome-wide autozygosity in the population isolates of Daghestan.
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- European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1405, doi. 10.1038/ejhg.2014.299
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Research participants in NGS studies want to know about incidental findings.
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- European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1423, doi. 10.1038/ejhg.2014.298
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Genetic testing of children for adult-onset conditions: opinions of the British adult population and implications for clinical practice.
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- European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1281, doi. 10.1038/ejhg.2014.221
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Reply to Stoimenis et al.
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- European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1280, doi. 10.1038/ejhg.2014.288
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Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management.
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- European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1286, doi. 10.1038/ejhg.2014.282
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- Article
GWAS with longitudinal phenotypes: performance of approximate procedures.
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- European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1384, doi. 10.1038/ejhg.2015.1
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Huntington's disease biomarker progression profile identified by transcriptome sequencing in peripheral blood.
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- European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1349, doi. 10.1038/ejhg.2014.281
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Genome-wide analysis identifies a role for common copy number variants in specific language impairment.
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- European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1370, doi. 10.1038/ejhg.2014.296
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- Article
'Epistatic interactions between autoimmunity and genetic thrombophilia'.
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- European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1279, doi. 10.1038/ejhg.2014.287
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- Article