Works matching IS 10184813 AND DT 2012 AND VI 20 AND IP 5
Results: 30
Clinical utility gene card for: Biotinidase deficiency.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 5, p. 1, doi. 10.1038/ejhg.2012.28
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- Article
Association study of the single nucleotide polymorphisms of PARK2 and PACRG with leprosy susceptibility in Chinese population.
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- European Journal of Human Genetics, 2012, v. 20, n. 5, p. 488, doi. 10.1038/ejhg.2011.190
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- Article
Clinical utility gene card for: Werner syndrome.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 5, p. 1, doi. 10.1038/ejhg.2011.265
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- Article
Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies).
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- European Journal of Human Genetics, 2012, v. 20, n. 5, p. 1, doi. 10.1038/ejhg.2011.251
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- Article
Genotype and cognitive phenotype of patients with tuberous sclerosis complex.
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- European Journal of Human Genetics, 2012, v. 20, n. 5, p. 510, doi. 10.1038/ejhg.2011.241
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- Article
Use of the gamma method for self-contained gene-set analysis of SNP data.
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- European Journal of Human Genetics, 2012, v. 20, n. 5, p. 565, doi. 10.1038/ejhg.2011.236
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- Article
Health-care providers' views on pursuing reproductive benefit through newborn screening: the case of sickle cell disorders.
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- European Journal of Human Genetics, 2012, v. 20, n. 5, p. 498, doi. 10.1038/ejhg.2011.188
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- Article
Clinical utility gene card for: familial erythrocytosis.
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- European Journal of Human Genetics, 2012, v. 20, n. 5, p. 1, doi. 10.1038/ejhg.2011.252
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- Article
Homozygous SMN2 deletion is a protective factor in the Swedish ALS population.
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- European Journal of Human Genetics, 2012, v. 20, n. 5, p. 588, doi. 10.1038/ejhg.2011.255
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- Article
Direct-to-consumer genetic testing services: what are the medical benefits?
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- European Journal of Human Genetics, 2012, v. 20, n. 5, p. 483, doi. 10.1038/ejhg.2011.229
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- Article
Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother.
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- European Journal of Human Genetics, 2012, v. 20, n. 5, p. 594, doi. 10.1038/ejhg.2012.32
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- Article
Polymorphisms in the P2X7 receptor gene are associated with low lumbar spine bone mineral density and accelerated bone loss in post-menopausal women.
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- European Journal of Human Genetics, 2012, v. 20, n. 5, p. 559, doi. 10.1038/ejhg.2011.245
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- Article
Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe.
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- European Journal of Human Genetics, 2012, v. 20, n. 5, p. 521, doi. 10.1038/ejhg.2011.246
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- Article
17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations.
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- European Journal of Human Genetics, 2012, v. 20, n. 5, p. 534, doi. 10.1038/ejhg.2011.239
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- Article
Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother.
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- European Journal of Human Genetics, 2012, v. 20, n. 5, p. 540, doi. 10.1038/ejhg.2011.244
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- Article
Newborn screening for sickle cell disease: whose reproductive benefit?
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- European Journal of Human Genetics, 2012, v. 20, n. 5, p. 484, doi. 10.1038/ejhg.2011.191
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- Article
Disease gene identification strategies for exome sequencing.
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- European Journal of Human Genetics, 2012, v. 20, n. 5, p. 490, doi. 10.1038/ejhg.2011.258
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- Article
Clinical utility gene card for: haemophilia B.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 5, p. 1, doi. 10.1038/ejhg.2011.268
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- Article
Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes.
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- European Journal of Human Genetics, 2012, v. 20, n. 5, p. 584, doi. 10.1038/ejhg.2011.234
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Reply to Talseth-Palmer et al.
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- European Journal of Human Genetics, 2012, v. 20, n. 5, p. 488, doi. 10.1038/ejhg.2011.235
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- Article
Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies.
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- European Journal of Human Genetics, 2012, v. 20, n. 5, p. 527, doi. 10.1038/ejhg.2011.233
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- Article
Routine testing for PALB2 mutations in familial pancreatic cancer families and breast cancer families with pancreatic cancer is not indicated.
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- European Journal of Human Genetics, 2012, v. 20, n. 5, p. 577, doi. 10.1038/ejhg.2011.226
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Splicing analysis of unclassified variants in COL2A1 and COL11A1 identifies deep intronic pathogenic mutations.
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- European Journal of Human Genetics, 2012, v. 20, n. 5, p. 552, doi. 10.1038/ejhg.2011.223
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Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay.
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- European Journal of Human Genetics, 2012, v. 20, n. 5, p. 580, doi. 10.1038/ejhg.2011.243
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How to deal with the early GWAS data when imputing and combining different arrays is necessary.
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- European Journal of Human Genetics, 2012, v. 20, n. 5, p. 572, doi. 10.1038/ejhg.2011.231
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8q23.3 and 11q23.1 as modifying loci influencing the risk for CRC in Lynch syndrome.
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- European Journal of Human Genetics, 2012, v. 20, n. 5, p. 487, doi. 10.1038/ejhg.2011.232
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Reply to Ross' commentary: Reproductive benefit through newborn screening: preferences, policy and ethics.
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- European Journal of Human Genetics, 2012, v. 20, n. 5, p. 486, doi. 10.1038/ejhg.2012.25
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Prospective comparison of family medical history with personal genome screening for risk assessment of common cancers.
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- European Journal of Human Genetics, 2012, v. 20, n. 5, p. 547, doi. 10.1038/ejhg.2011.224
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ironXS: high-school screening for hereditary haemochromatosis is acceptable and feasible.
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- European Journal of Human Genetics, 2012, v. 20, n. 5, p. 505, doi. 10.1038/ejhg.2011.247
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Association of genomic instability, and the methylation status of imprinted genes and mismatch-repair genes, with neural tube defects.
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- European Journal of Human Genetics, 2012, v. 20, n. 5, p. 516, doi. 10.1038/ejhg.2011.242
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