Results 81 to 90 of about 5,948 (186)
X-chromosome inactivation mosaicism in the three germ layers and the germ line of the mouse embryo [PDF]
Electrophoretic variant forms of the X-linked enzyme phosphoglycerate kinase (PGK-1, E.C.2, 7, 2, 3) have been used to examine X-chromosome mosaicism in tissues from 121/2-day post coitum heterozygous female mouse embryos.
Fosten, M., McMahon, A., Monk, M.
core
Comparison of four different algorithms for the calculation of radioimmunoassay standard curves [PDF]
Peer ...
Herndl, R. +2 more
core +2 more sources
Lesch-Nyhan syndrome: A case report
Lesch-Nyhan syndrome, a rare inborn error of metabolism, is characterized by mental retardation and self-destructive behavior resulting in self-mutilation through biting and scratching.
Kale A, Shah K, Hallikerimath S
doaj
Varios autores han registrado la importancia de la metilación del gen IDS en el proceso de inactivación del cromosoma X. Adicionalmente, algunos pacientes con mucopolisacaridosis muestran un patrón de sesgo en la inactivación del cromosoma X y su ...
Adalberto Sánchez Gómez
doaj +1 more source
Lesch-Nyhan syndrome: a case report. [PDF]
Park HI, Kim GH, Ahn KM.
europepmc +1 more source
It had long been suspected that gout might be a disease of varying origins, but it has only been during the present century that primary or acquired gout and hereditary gout have been clearly defined and differentiated. A considerable number of secondary
Copeman, W. S. C.
core +1 more source
Wormwholes: A Commentary On K.F. Schaffer\u27s Genes, Behavior, And Developmental Emergentism [PDF]
Although Caenorhabditis elegans was chosen and modified to be an organism that would facilitate a reductionist program for neurogenetics, recent research has provided evidence for properties that are emergent from the neurons. While neurogenetic advances
Gilbert, Scott F., Jorgensen, E. M.
core +1 more source
Bipolar affective disorder: A review of novel forms of therapy
Normothymic, antidepressant and antipsychotic pharmaceutics are, in accordance with international guidelines, employed both in the therapy and the prevention of bipolar disorder (BD).
Dziwota Ewelina +4 more
doaj +1 more source
The Role of Purine Metabolism and Uric Acid in Postnatal Neurologic Development
This review explores the essential roles of purine metabolism including the catabolic product, uric acid, in the development of dopaminergic neurons of the substantia nigra pars compacta. The high energy requirements of the substantia nigra pars compacta
Lauren N. Mileti, James D. Baleja
doaj +1 more source
The Role of Video-EEG Monitoring in Lesch-Nyhan Syndrome. [PDF]
Roza E, Baloi AD, Plaiasu V, Teleanu RI.
europepmc +1 more source

