14 results on '"van Heyningen, Veronica"'
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2. Faculty Opinions recommendation of Novel Crohn disease locus identified by genome-wide association maps to a gene desert on 5p13.1 and modulates expression of PTGER4.
3. Faculty Opinions recommendation of Most rare missense alleles are deleterious in humans: implications for complex disease and association studies.
4. Faculty Opinions recommendation of Direct non-cell autonomous Pax6 activity regulates eye development in the zebrafish.
5. Faculty Opinions recommendation of Anatomic demarcation by positional variation in fibroblast gene expression programs.
6. Faculty Opinions recommendation of Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome.
7. Faculty Opinions recommendation of Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit.
8. Faculty Opinions recommendation of Progressive disruption of cellular protein folding in models of polyglutamine diseases.
9. Faculty Opinions recommendation of X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.
10. Faculty Opinions recommendation of Hindbrain rhombic lip is comprised of discrete progenitor cell populations allocated by Pax6.
11. Faculty Opinions recommendation of Genomic deletion of a long-range bone enhancer misregulates sclerostin in Van Buchem disease.
12. Faculty Opinions recommendation of Fog2 is required for normal diaphragm and lung development in mice and humans.
13. Faculty Opinions recommendation of Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC).
14. Faculty Opinions recommendation of Transcriptional regulatory code of a eukaryotic genome.
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