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TranscriptomicsA non-coding mutation implicates HCFC1 in non-syndromic intellectual disability
Human disease mutation discovery has so far been biased towards protein coding regions. Having excluded all annotated coding regions, we performed targeted massively parallel re-sequencing of the non-repetitive genomic linkage interval of the MRX3 family at Xq28. We identified a regulatory mutation ...
ORGANISM(S): Homo sapiens 
2012-09-01 | E-GEOD-39326 | biostudies-arrayexpress
TranscriptomicsmRNA expression profiling of mouse microvasculature
Combination of reverse- and chemical genetic screens reveals a network of novel angiogenesis inhibitors and targets Drug target identification and validation are bottlenecks in the drug discovery process. Accordingly there is a need to develop new methods to facilitate the development of much-nee...
ORGANISM(S): Mus musculus 
2010-05-18 | E-GEOD-10035 | biostudies-arrayexpress
UnknownCharacterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.
Not available
S-EPMC8246418 | biostudies-literature
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