Results 121 to 130 of about 10,877,278 (223)
Scientific ReportsBiallelic variants in the adenosine deaminase tRNA specific 3 (ADAT3) gene are associated with a distinct neurodevelopmental disorder characterized by dysmorphic facies, poor growth, cognitive impairment, and variable brain anomalies.
Karima Rafat +8 more
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, 1994 Publisher Summary This chapter discusses genomic imprinting in humans, which is a recently recognized phenomenon. It has already been implicated in a number of developmental and pathological processes. However, it is still unclear in terms of its functions in normal development, although there is evidence that some imprinted genes are important in ...
openaire +3 more sources
Patterns of pharmacogenetic variation in nine biogeographic groups
Clinical and Translational ScienceFrequencies of pharmacogenetic (PGx) variants are known to differ substantially across populations but much of the available PGx literature focuses on one or a few population groups, often defined in nonstandardized ways, or on a specific gene or variant.
Sophia Hernandez +4 more
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Journal of Lipid Research, 1994 Elevated levels of apolipoprotein[a] (apo[a]) and apolipoprotein A-I (apoA-I) are associated, respectively, with increased and decreased atherosclerosis risk, in both humans and transgenic mice.
A C Liu +3 more
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The Structure of Haplotype Blocks in the Human Genome
Science, 2002 S. Gabriel +17 more
semanticscholar +1 more source
Long-read human genome sequencing and its applications
Nature reviews genetics, 2020 Glennis A. Logsdon +2 more
semanticscholar +1 more source