126 research outputs found
Fuels and Burners for Domestic Heating
Discusses fuels and burners for domestic heating, including hand-fired coal or coke, automatic coal stoker, gas-fired heaters, oil burners. INlcudes table of comparative fuel costs
A high-contiguity Brassica nigra genome localizes active centromeres and defines the ancestral Brassica genome
Diet and ecomorphology of Leporinus reticulatus (Characiformes: Anostomidae) from the upper Rio Juruena, MT, Brazil: ontogenetic shifts related to the feeding ecology
Relação entre a presença de vegetação herbácea e a regeneração natural de espécies lenhosas em pastagens abandonadas na Floresta Ombrófila Densa do Sul do Brasil
PatogĂŞnese, sinais clĂnicos e patologia das doenças causadas por plantas hepatotĂłxicas em ruminantes e eqĂĽinos no Brasil
Large-scale discovery of novel genetic causes of developmental disorders
Despite three decades of successful, predominantly phenotype-driven discovery of the genetic causes of monogenic disorders1, up to half of children with severe developmental disorders of probable genetic origin remain without a genetic diagnosis. Particularly challenging are those disorders rare enough to have eluded recognition as a discrete clinical entity, those with highly variable clinical manifestations, and those that are difficult to distinguish from other, very similar, disorders. Here we demonstrate the power of using an unbiased genotype-driven approach2 to identify subsets of patients with similar disorders. By studying 1,133 children with severe, undiagnosed developmental disorders, and their parents, using a combination of exome sequencing3,4,5,6,7,8,9,10,11 and array-based detection of chromosomal rearrangements, we discovered 12 novel genes associated with developmental disorders. These newly implicated genes increase by 10% (from 28% to 31%) the proportion of children that could be diagnosed. Clustering of missense mutations in six of these newly implicated genes suggests that normal development is being perturbed by an activating or dominant-negative mechanism. Our findings demonstrate the value of adopting a comprehensive strategy, both genome-wide and nationwide, to elucidate the underlying causes of rare genetic disorders
The relationship betweeen physical and mental performance during prolonged exercise
Available from British Library Document Supply Centre- DSC:DX186812 / BLDSC - British Library Document Supply CentreSIGLEGBUnited Kingdo
Fuels and Burners for Domestic Heating
Discusses fuels and burners for domestic heating, including hand-fired coal or coke, automatic coal stoker, gas-fired heaters, oil burners. INlcudes table of comparative fuel costs
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