1. ホーム
  2. 一覧
論文 特許

論文 - 一覧

  • 7 Hits
  • 検索条件 : 絞込み (MeSH = Neurodevelopmental Disorders / genetics*)
生物種 リソース名 タイトル
ショウジョウバエ DGRC#108284 Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant.
ショウジョウバエ , ヒト・動物細胞 293T(RCB2202) Recurrent NFIA K125E substitution represents a loss-of-function allele: Sensitive in vitro and in vivo assays for nontruncating alleles.
ショウジョウバエ DGRC#140400 Functional assessment of the "two-hit" model for neurodevelopmental defects in Drosophila and X. laevis.
実験動物マウス RBRC05765 Brain-specific deletion of histone variant H2A.z results in cortical neurogenesis defects and neurodevelopmental disorder.
ゼブラフィッシュ Tol-056 De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism.
線虫 tm373 Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization.
遺伝子材料 Genome Network Project Human cDNA IRAK115J05 (HGX046221) Novel biallelic mutations in the PNPT1 gene encoding a mitochondrial-RNA-import protein PNPase cause delayed myelination.