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11 Hits
検索条件 : 絞込み (MeSH = Abnormalities, Multiple / genetics*)
生物種
リソース名
RRC ID
タイトル
ジャーナル
公開日
外部リンク
線虫
tm2452
,
tm925
65370
Interpreting the pathogenicity of Joubert syndrome missense variants in Caenorhabditis elegans.
Dis Model Mech
2021-1-1
Pubmed
Full text
ヒト・動物細胞
293(RCB1637)
62857
Knockdown of Son, a mouse homologue of the ZTTK syndrome gene, causes neuronal migration defects and dendritic spine abnormalities.
Mol Brain
2020-5-24
Pubmed
Full text
ヒト・動物細胞
201B7(HPS0063)
62518
Chromosome 22q11.2 deletion causes PERK-dependent vulnerability in dopaminergic neurons.
EBioMedicine
2021-1-1
Pubmed
Full text
ショウジョウバエ
31935R-3
60813
The Warburg Micro Syndrome-associated Rab3GAP-Rab18 module promotes autolysosome maturation through the Vps34 Complex I.
FEBS J
2021-1-1
Pubmed
Full text
ゼブラフィッシュ
Tol-056
55007
De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism.
Am J Hum Genet
2018-9-6
Pubmed
Full text
ゼブラフィッシュ
Tg(6xTcf/LefBS-miniP:d2EGFP)
51254
Functional validation of novel MKS3/TMEM67 mutations in COACH syndrome.
Sci Rep
2017-8-31
Pubmed
Full text
ショウジョウバエ
50631
Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.
Nat Genet
2012-4-29
Pubmed
Full text
ヒト・動物細胞
HeLa
44437
Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.
Am J Hum Genet
2013-6-6
Pubmed
Full text
ラット
F344-Oune/Kyo
35172
Novel ENU-Induced Mutation in Tbx6 Causes Dominant Spondylocostal Dysostosis-Like Vertebral Malformations in the Rat.
PLoS One
2015-6-19
Pubmed
Full text
ラット
IS/Kyo(strainID=5)
,
IS-Tlk/Kyo(strainID=25)
33274
Morphological features of adult rats of IS/Kyo and IS-Tlk/Kyo strains with lumbar and caudal vertebral anomalies.
Exp Anim
2014-1-1
Pubmed
Full text
実験動物マウス
RBRC00387
11789
Birth defects caused by mutations in human GLI3 and mouse Gli3 genes.
Congenit Anom (Kyoto)
2010-3-1
Pubmed
Full text