検索結果6件中 1-6 を表示

  • Girisha Katta M. ID: 9000401559798

    Department of Medical Genetics; Kasturba Medical College, Manipal, Manipal University; Karnataka India (2016年 CiNii収録論文より)

    CiNii収録論文: 1件

    • Spectrum of urorectal septum malformation sequence:Urorectal septum malformation (2016)
  • Girisha Katta M ID: 9000401559855

    Department of Medical Genetics; Kasturba Medical College, Manipal University; Manipal India (2016年 CiNii収録論文より)

    CiNii収録論文: 1件

    • Congenital omphalocele and cleft palate in two fetuses:Omphalocele and cleft palate (2016)
  • Girisha Katta M. ID: 9000401559976

    Department of Medical Genetics; Kasturba Medical College, Manipal University; Manipal India (2017年 CiNii収録論文より)

    CiNii収録論文: 1件

    • Variable presentation of Fraser syndrome in two fetuses and a novel mutation in FRAS1:Fraser syndrome (2017)
  • Girisha Katta M. ID: 9000401560373

    Department of Medical Genetics; Kasturba Medical College, Manipal Academy of Higher Education; Manipal India (2018年 CiNii収録論文より)

    CiNii収録論文: 1件

    • Report of four novel variants in ASNS causing asparagine synthetase deficiency and review of literature:Asparagine synthetase deficiency (2018)
  • Girisha Katta M. ID: 9000401560442

    Department of Medical Genetics; Kasturba Medical College, Manipal Academy of Higher Education; Manipal India (2018年 CiNii収録論文より)

    CiNii収録論文: 1件

    • Further evidence for causation of ischiospinal dysostosis by a pathogenic variant in BMPER and expansion of the phenotype (2018)
  • Girisha Katta M ID: 9000345445646

    CiNii収録論文: 1件

    • Identification of a novel LRRK1 mutation in a family with osteosclerotic metaphyseal dysplasia (2017)
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