Results 211 to 220 of about 281,706 (265)

Innovative multi-scale approach to study the phenotypic variation of seedling leaves in four weedy Amaranthus species. [PDF]

open access: yesPlant Biol (Stuttg)
Scarpin D   +9 more
europepmc   +1 more source

Species-wide inventory of Arabidopsis thaliana organellar variation reveals ample phenotypic variation for photosynthetic performance. [PDF]

open access: yesProc Natl Acad Sci U S A
Theeuwen TPJM   +16 more
europepmc   +1 more source
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Citrullinemia: Phenotypic Variations

Pediatrics, 1976
An 18-month-old female infant was found to have citrullinemia on routine plasma screening by the Seriver Method at 5 days of age. At 10 days of age, plasma citrulline concentration was 0.704µmol/ml (normal, 0.010 to 0.030µmol/ml) and has remained 60 to 80 times higher than normal. Urine citrulline concentration was markedly elevated.
D T, Whelan, T, Brusso, M, Spate
openaire   +2 more sources

Phenotypic variation in biotinidase deficiency

The Journal of Pediatrics, 1983
Biotinidase deficiency is the usual biochemical defect in biotin-responsive late-onset multiple carboxylase deficiency. We reviewed the clinical features of six patients with the enzyme deficiency and compared them with features described in the literature in children with late-onset MCD.
B, Wolf   +7 more
openaire   +2 more sources

Phenotype variations in Gaucher disease

La Revue de Médecine Interne, 2006
The Gaucher phenotype is very complex and it cannot be simply evaluated on the basis of blood counts or splenomegaly, but by the analysis of all disease compartments. To establish the diagnosis of Gaucher disease, biochemical assay of glucocerebrosidase activity is the most reliable method.
P, Mistry, D P, Germain
openaire   +2 more sources

Hsp90 as a capacitor of phenotypic variation

Nature, 2002
Heat-shock protein 90 (Hsp90) chaperones the maturation of many regulatory proteins and, in the fruitfly Drosophila melanogaster, buffers genetic variation in morphogenetic pathways. Levels and patterns of genetic variation differ greatly between obligatorily outbreeding species such as fruitflies and self-fertilizing species such as the plant ...
Christine, Queitsch   +2 more
openaire   +2 more sources

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