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3 Hits
Search Condition : Filter (MeSH = Neurodevelopmental Disorders / pathology)
Species
Resource
RRC ID
Title
Journal
Published
Link
Drosophila
,
Human and Animal Cells
293T(RCB2202)
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
Drosophila
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
DNA material
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