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論文 - 一覧

  • 11 Hits
  • 検索条件 : 絞込み (MeSH = Abnormalities, Multiple / genetics*)
生物種 リソース名 タイトル
線虫 tm2452 , tm925 Interpreting the pathogenicity of Joubert syndrome missense variants in Caenorhabditis elegans.
ヒト・動物細胞 293(RCB1637) Knockdown of Son, a mouse homologue of the ZTTK syndrome gene, causes neuronal migration defects and dendritic spine abnormalities.
ヒト・動物細胞 201B7(HPS0063) Chromosome 22q11.2 deletion causes PERK-dependent vulnerability in dopaminergic neurons.
ショウジョウバエ 31935R-3 The Warburg Micro Syndrome-associated Rab3GAP-Rab18 module promotes autolysosome maturation through the Vps34 Complex I.
ゼブラフィッシュ Tol-056 De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism.
ゼブラフィッシュ Tg(6xTcf/LefBS-miniP:d2EGFP) Functional validation of novel MKS3/TMEM67 mutations in COACH syndrome.
ショウジョウバエ Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.
ヒト・動物細胞 HeLa Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.
ラット F344-Oune/Kyo Novel ENU-Induced Mutation in Tbx6 Causes Dominant Spondylocostal Dysostosis-Like Vertebral Malformations in the Rat.
ラット IS/Kyo(strainID=5) , IS-Tlk/Kyo(strainID=25) Morphological features of adult rats of IS/Kyo and IS-Tlk/Kyo strains with lumbar and caudal vertebral anomalies.
実験動物マウス RBRC00387 Birth defects caused by mutations in human GLI3 and mouse Gli3 genes.