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Defined single-gene and multi-gene deletion mutant collections in salmonella enterica sv typhimurium
(PUBLIC LIBRAY OF SCIENCE, 2014)
Defined single-gene and multi-gene deletion mutant collections in salmonella enterica sv typhimurium
(PUBLIC LIBRAY OF SCIENCE, 2014)
Association of Distal Deletion of the Short arm of Chromosome 9 with 46,XY Disorder of Sex Development and Gonadoblastoma
(Biological Systems, 2015-02)
Deletion of the short arm of chromosome 9 is associated with two distinct clinical prototypes. Small telomeric distal 9p deletions have been reported in patients 46,XY with gonadal dysgenesis, this region contains genes ...
Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome
(2012-02-01)
Smith-Magenis syndrome (SMS) is a complex disorder whose clinical features include mild to severe intellectual disability with speech delay, growth failure, brachycephaly, flat midface, short broad hands, and behavioral ...
Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome
(2012-02-01)
Smith-Magenis syndrome (SMS) is a complex disorder whose clinical features include mild to severe intellectual disability with speech delay, growth failure, brachycephaly, flat midface, short broad hands, and behavioral ...
Multiple genetic origins of histidine-rich protein 2 gene deletion in Plasmodium falciparum parasites from Peru
(Springer Nature, 2013)
The majority of malaria rapid diagnostic tests (RDTs) detect Plasmodium falciparum histidine-rich protein 2 (PfHRP2), encoded by the pfhrp2 gene. Recently, P. falciparum isolates from Peru were found to lack pfhrp2 leading ...
Deletion 5q12: Delineation of a Phenotype Including Mental Retardation and Ocular Defects
(WILEY-BLACKWELL, 2011)
Array-CGH enables the detection of submicroscopic chromosomal deletions and duplications and leads to an accurate delineation of the imbalances, raising the possibility of correlating genotype to phenotype and mapping ...