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3 Hits
Search Condition : Filter (MeSH = Facies)
Species
Resource
RRC ID
Title
Journal
Published
Link
Drosophila
50631
Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.
Nat Genet
2012-4-29
Pubmed
Full text
Mice
RBRC01345
34774
De novo inbred heterozygous Zeb2/Sip1 mutant mice uniquely generated by germ-line conditional knockout exhibit craniofacial, callosal and behavioral defects associated with Mowat-Wilson syndrome.
Hum Mol Genet
2015-11-15
Pubmed
Full text
Mice
RBRC01828
30833
New BRAF knockin mice provide a pathogenetic mechanism of developmental defects and a therapeutic approach in cardio-facio-cutaneous syndrome.
Hum Mol Genet
2014-12-15
Pubmed
Full text