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UnknownD-Dimer in African Americans: Whole Genome Sequence Analysis and Relationship to Cardiovascular Disease Risk in the Jackson Heart Study.
Not available
S-EPMC5658238 | biostudies-literature
UnknownDestabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome.
Not available
S-EPMC5035930 | biostudies-literature
UnknownMutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type.
Not available
S-EPMC5538819 | biostudies-literature
UnknownMutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia.
Not available
S-EPMC5387211 | biostudies-literature
UnknownA postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis.
Not available
S-EPMC5311977 | biostudies-literature
UnknownExpanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.
Not available
S-EPMC6198324 | biostudies-literature
TranscriptomicsModeling the clinical phenotype of BTK inhibition in the mature murine immune system
Using the novel BTK inhibitor PF-303, we model the clinical phenotype of BTK inhibition by systematically examining the impact of PF-303 on the mature immune system in mice autoimmune indications. However, our current knowledge of the role of BTK in immune competence has been gathered in the context...
ORGANISM(S): Mus musculus 
2014-08-01 | E-GEOD-56483 | biostudies-arrayexpress
UnknownA requisite role for induced regulatory T cells in tolerance based on expanding antigen receptor diversity.
Not available
S-EPMC3295638 | biostudies-literature
TranscriptomicsFine-Scale Mapping and Sequencing of Structural Variation from Eight Human Genomes
Genetic variation amongst individual humans occurs on many different scales, ranging from gross alterations in the human karyotype to single-nucleotide changes. In this manuscript we explore variation on an intermediate scale-particularly insertions, deletions, and inversions affecting from a few t...
ORGANISM(S): Homo sapiens 
2008-05-01 | E-GEOD-10008 | biostudies-arrayexpress
TranscriptomicsFine-Scale Mapping and Sequencing of Structural Variation from Eight Human Genomes
Genetic variation amongst individual humans occurs on many different scales, ranging from gross alterations in the human karyotype to single-nucleotide changes. In this manuscript we explore variation on an intermediate scale-particularly insertions, deletions, and inversions affecting from a few t...
ORGANISM(S): Homo sapiens 
2008-05-01 | E-GEOD-10037 | biostudies-arrayexpress
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