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7 Hits
検索条件 : 絞込み (MeSH = Neurodevelopmental Disorders / 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
ショウジョウバエ
DGRC#108284
70782
Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant.
Hum Genet
2022-2-1
Pubmed
Full text
ショウジョウバエ
70108
Recurrent NFIA K125E substitution represents a loss-of-function allele: Sensitive in vitro and in vivo assays for nontruncating alleles.
Am J Med Genet A
2021-7-1
Pubmed
Full text
ショウジョウバエ
DGRC#140400
64510
Functional assessment of the "two-hit" model for neurodevelopmental defects in Drosophila and X. laevis.
PLoS Genet
2021-4-1
Pubmed
Full text
実験動物マウス
RBRC05765
60961
Brain-specific deletion of histone variant H2A.z results in cortical neurogenesis defects and neurodevelopmental disorder.
Nucleic Acids Res
2018-3-16
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
線虫
tm373
51514
Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization.
Brain
2017-11-1
Pubmed
Full text
遺伝子材料
Genome Network Project Human cDNA IRAK115J05 (HGX046221)
49236
Novel biallelic mutations in the PNPT1 gene encoding a mitochondrial-RNA-import protein PNPase cause delayed myelination.
Clin Genet
2018-2-1
Pubmed
Full text