外文期刊订阅>期刊> European Journal of Human Genetics

(被订阅6次)

  出版社: Nature Publishing Group
  期刊类型: 月刊
  影响因子: 4.380(2010年)
  ISSN: 1018-4813
  所在领域: 生命科学   
 
 

The European Journal of Human Genetics is the official Journal of the European Society of Human Genetics, publishing high-qu...

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The European Journal of Human Genetics is the official Journal of the European Society of Human Genetics, publishing high-quality, original research papers, short reports, News and Commentary articles and reviews in the rapidly expanding field of human genetics and genomics, including a new series on Practical Genetics. The journal covers molecular, clinical and cytogenetics, interfacing between advanced biomedical research and the clinician, and bridging the great diversity of facilities, resources and viewpoints in the genetics community.

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European Journal of Human Genetics

中文名: 欧洲人类遗传学报  缩写名: Eur J Hum Genet

收入刊期 2012年   2011年   2010年   2009年   2008年  

最新期2012年20-5期内容

1 Routine testing for PALB2 mutations in familial pancreatic cancer families and breast cancer families with pancreatic cancer is not indicated
2 Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay
3 Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes
4 Homozygous SMN2 deletion is a protective factor in the Swedish ALS population
5 Clinical utility gene card for: familial erythrocytosis
6 Clinical utility gene card for: haemophilia B
7 Clinical utility gene card for: Biotinidase deficiency
8 Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies)
9 Limits of DTC Direct-to-consumer genetic testing services: what are the medical benefits?
10 Carrier identification in newborn screening Newborn screening for sickle cell disease: whose reproductive benefit?
11 Reply to Ross' commentary: Reproductive benefit through newborn screening: preferences, policy and ethics
12 8q23.3 and 11q23.1 as modifying loci influencing the risk for CRC in Lynch syndrome
13 8q23.3 and 11q23.1 as modifying loci influencing the risk for CRC in Lynch syndrome Reply
14 Association study of the single nucleotide polymorphisms of PARK2 and PACRG with leprosy susceptibility in Chinese population
15 Disease gene identification strategies for exome sequencing
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