… metabolic disorders of the nervous system, was located in the … Changes in test DNA copy
number at specific loci were … length was shorter than half-lengths of detected CNVs) were not …

… ) gene is one of the few genetic disorders that can be … Genetic analyses were performed
on genomic DNA isolated … The graph shows the mean (± SD) copy number of SLC19A2 …

… the D-loop region and mtDNA copy number has often been … and in animal models of these
disorders (Figure 1). Blanch et al. (… of mitochondrial epigenetics is still in its infancy. The links …

… OMIM 173650) is a rare autosomal recessive skin disorder, which … it has been so since the
early neonatal period. When she … Thus, we proposed that a copy number analysis of FERMT1 …

… abnormalities, including submicroscopic copy number … typical CSS patients did not reveal
any abnormalities. In addition, … complex are not present in the original yeast SWI/SNF complex, …

… So far, more than 7000 rare mendelian disorders are … forms for which genetic basis is not
completely understood. The … a current change, as DNA molecule flows through a membrane …

… These disturbances severely impact the child’s daily life and … However, maternal obesity did
not appear to be associated … examined genomic DNA from 443 newborns with CP and 883 …

… and neighboring genes, mediated by copy number repeats (NF1-… tumor-predisposition
disorder, usually diagnosed in infancy or … For all analyses, commercial male DNA was used in …

… AD pathogenesis is closely associated with disorders of neuronal … such regeneration does
not notably occur without T cells. … Figure 1 Immunolabeling for doublecortin-positive (newborn) …