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検索結果 9 件

Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study

Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study
デジタル記事
2022-07Human Genetics and Genomics Advances3 3p.100108-
全国の図書館
  • 掲載誌（ISSN）26662477

HLA-A∗03:01 is associated with increased risk of fever, chills, and stronger side effects from Pfizer-BioNTech COVID-19 vaccination

HLA-A∗03:01 is associated with increased risk of fever, chills, and stronger side effects from Pfizer-BioNTech COVID-19 vaccination
デジタル記事
2022-04Human Genetics and Genomics Advances3 2p.100084-
全国の図書館
  • 掲載誌（ISSN）26662477

Polygenic risk scores in the clinic: Translating risk into action

Polygenic risk scores in the clinic: Translating risk into action
デジタル記事
2021-10Human Genetics and Genomics Advances2 4p.100047-
全国の図書館
  • 掲載誌（ISSN）26662477

Genetic discovery and risk characterization in type 2 diabetes across diverse populations

Genetic discovery and risk characterization in type 2 diabetes across diverse populations
デジタル記事
2021-04Human Genetics and Genomics Advances2 2p.100029-
全国の図書館
  • 掲載誌（ISSN）26662477

Cutaneous and hepatic vascular lesions due to a recurrent somatic GJA4 mutation reveal a pathway for vascular malformation

Cutaneous and hepatic vascular lesions due to a recurrent somatic GJA4 mutation reveal a pathway for vascular malformation
デジタル記事
2021-04Human Genetics and Genomics Advances2 2p.100028-
全国の図書館
  • 掲載誌（ISSN）26662477

Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological disorder

Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological disorder
デジタル記事
2021-04Human Genetics and Genomics Advances2 2p.100026-
全国の図書館
  • 掲載誌（ISSN）26662477

Inclusion of variants discovered from diverse populations improves polygenic risk score transferability

Inclusion of variants discovered from diverse populations improves polygenic risk score transferability
デジタル記事
2021-01Human Genetics and Genomics Advances2 1p.100017-
全国の図書館
  • 掲載誌（ISSN）26662477

Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome

Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome
デジタル記事
2021-01Human Genetics and Genomics Advances2 1p.100015-
全国の図書館
  • 掲載誌（ISSN）26662477

HGG Advances

HGG Advances
デジタル電子書籍・電子雑誌雑誌
Elsevier
国立国会図書館

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