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《The America J of Human Genetic》杂志2017年发表文章

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《The America J of Human Genetic》杂志2017年发表文章

科研论文创建于2017-06-04 最后编辑: 2017-09-15 22:24 2,733阅读 2人收藏
Journal:The America Journal of Human Genetics
Year:2017
共 95 个文档
AJHG-2017-Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome 7p
pdf AJHG-2017-Loss-of-Function Variants in MYLK Cause Re..
暂无描述
  • 作者: Science
  • 2017-07-07
  • 格式: PDF
AJHG-2017-Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy 10p
pdf AJHG-2017-Loss-of-Function and Gain-of-Function Mutati..
暂无描述
  • 作者: Science
  • 2017-07-07
  • 格式: PDF
AJHG-2017-Integrative Genetic and Epigenetic Analysis Uncovers Regulatory Mechanisms of Autoimmune Disease 12p
pdf AJHG-2017-Integrative Genetic and Epigenetic Analysis ..
暂无描述
  • 作者: Science
  • 2017-07-07
  • 格式: PDF
AJHG-2017-A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia 17p
pdf AJHG-2017-A Pentanucleotide ATTTC Repeat Insertion i..
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  • 作者: Science
  • 2017-07-07
  • 格式: PDF
AJHG-2017-A Fast Association Test for Identifying Pathogenic Variants Involved in Rare Diseases 11p
pdf AJHG-2017-A Fast Association Test for Identifying Pat..
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  • 作者: Science
  • 2017-07-07
  • 格式: PDF
AJHG-2017-A Fast and Accurate Algorithm to Test for Binary Phenotypes and Its Application to PheWAS 13p
pdf AJHG-2017-A Fast and Accurate Algorithm to Test for B..
暂无描述
  • 作者: Science
  • 2017-07-07
  • 格式: PDF
AJHG-2017-10 Years of GWAS Discovery Biology, Function, and Translation 18p
pdf AJHG-2017-10 Years of GWAS Discovery Biology, Functi..
暂无描述
  • 作者: Science
  • 2017-07-07
  • 格式: PDF
AJHG-2017-SEQSpark A Complete Analysis Tool for Large-Scale Rare Variant Association Studies Using Whole-Genome and Exome Sequence Data 8p
pdf AJHG-2017-SEQSpark A Complete Analysis Tool for Larg..
暂无描述
  • 作者: Science
  • 2017-07-07
  • 格式: PDF
AJHG-2017-This Month in Genetics 2p
pdf AJHG-2017-This Month in Genetics
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  • 作者: Science
  • 2017-07-07
  • 格式: PDF
AJHG-2017-This Month in The Journal 2p
pdf AJHG-2017-This Month in The Journal
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  • 作者: Science
  • 2017-07-07
  • 格式: PDF
AJHG-2017-Ultra-sensitive Sequencing Identifies High Prevalence of Clonal Hematopoiesis-Associated Mutations throughout Adult Life 15p
pdf AJHG-2017-Ultra-sensitive Sequencing Identifies High P..
暂无描述
  • 作者: Science
  • 2017-07-07
  • 格式: PDF
AJHG-2017-WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features 10p
pdf AJHG-2017-WDR26 Haploinsufficiency Causes a Recogniza..
暂无描述
  • 作者: Science
  • 2017-07-07
  • 格式: PDF
AJHG-2017-Ultra-sensitive Sequencing Identifies High Prevalence of Clonal Hematopoiesis-Associated Mutations throughout Adult Life 15p
pdf AJHG-2017-Ultra-sensitive Sequencing Identifies High P..
暂无描述
  • 作者: Science
  • 2017-06-30
  • 格式: PDF
AJHG-2017-SEQSpark A Complete Analysis Tool for Large-Scale Rare Variant Association Studies using Whole-Genome and Exome Sequence Data 8p
pdf AJHG-2017-SEQSpark A Complete Analysis Tool for Larg..
暂无描述
  • 作者: Science
  • 2017-06-30
  • 格式: PDF
AJHG-2017-Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy 10p
pdf AJHG-2017-Loss-of-Function and Gain-of-Function Mutati..
暂无描述
  • 作者: Science
  • 2017-06-30
  • 格式: PDF
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