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UnknownMeta-Analysis of Genome-Wide Association Studies and Network Analysis-Based Integration with Gene Expression Data Identify New Suggestive Loci and Unravel a Wnt-Centric Network Associated with Dupuytren's Disease.
Not available
S-EPMC4965170 | biostudies-literature
UnknownCongenital Microcephaly: A Debate on Diagnostic Challenges and Etiological Paradigm of the Shift from Isolated/Non-Syndromic to Syndromic Microcephaly.
Not available
S-EPMC9954724 | biostudies-literature
UnknownA homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts.
Not available
S-EPMC2997371 | biostudies-literature
UnknownMolecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions.
Not available
S-EPMC1235482 | biostudies-literature
UnknownA cis-regulatory site downregulates PTHLH in translocation t(8;12)(q13;p11.2) and leads to Brachydactyly Type E.
Not available
S-EPMC3031338 | biostudies-literature
UnknownA misplaced lncRNA causes brachydactyly in humans.
Not available
S-EPMC3485082 | biostudies-literature
UnknownDistinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B.
Not available
S-EPMC1287887 | biostudies-literature
UnknownHallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies.
Not available
S-EPMC3343748 | biostudies-literature
UnknownMutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2.
Not available
S-EPMC218749 | biostudies-literature
UnknownMinor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain.
Not available
S-EPMC1288164 | biostudies-literature
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