Santalla,et al.Genotypic and phenotypic features of McArdle disease: insights from the Spanish national registry,Journal of Neurology, Neurosurgery & Psychiatry, 83 (2012) 322-328.http://dx.doi.org/10.1136/jnnp-2011-301593.Lucia A, Ruiz JR, Santalla A, et al. Genotypic and ...
Phenotypic and Genotypic Features of a Salmonella Heidelberg Strain Isolated in Broilers in Brazil and Their Possible Association to Antibiotics and Short-... Phenotypic and Genotypic Features of a Salmonella Heidelberg Strain Isolated in Broilers in Brazil and Their Possible Association to Antibiotics ...
Genotypic and phenotypic features of rare primitive dyslipidemias with disorder of triglyceride-rich lipoproteins metabolism 来自 ResearchGate 喜欢 0 阅读量: 17 作者: MD Filippo 摘要: Abnormal metabolism of triglyceride-rich lipoproteins (LRTG), chylomicrons and VLDL, can result in hypocholesterolemia ...
In order to test the contention that metastasis is a selective process and that therefore metastases might show a more restricted pattern of phenotypic and genotypic characteristics than primary tumors, we compared the expression of carcinoembryonic antigen, Ca 19-9, secretory component, serotonin, and...
Our study provides further evidence for validating the role of PARS2 in the pathology of related infantile-onset encephalopathy, contributing to the phenotypic features of this condition, and providing clinical and molecular insight for the diagnosis of this disease entity....
Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features Orphanet J. Rare Dis. (2014) V. Bizaoui et al. Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review Clin. Genet. (2019) N. Bor et al. Fracture...
Phenotypic and genotypic hetero- geneity in the Lynch syndrome: diagnostic, surveillance and management implications. Eur J Hum Genet. 2006; 14(4):390-402. PMID: 16479259Lynch HT, Boland CR, Gong G, Shaw TG, Lynch PM, Fodde R, Lynch JF, de la Chapelle A. 2006. Phenotypic and ...
The aim of this study was to determine the seroprevalence of Toxoplasma gondii infection in free-range chickens from Uberlândia, Minas Gerais state, Brazil, and characterize the genotypic and phenotypic features of two isolates of this parasite, considering the importance of these hosts in the epi...
The phenotypic features characteristic for the Yersinia virulence plasmid were detected on CRMOX agar in 8 out of 12 strains producing enterotoxin YstA, in 5 out of 12 doubtful strains, and in 11 out of 12 strains not producing YstA. Autoagglutination ability was detected in all 12 Y. ...
Phenotypic and Genotypic Variability in Four Males With MECP2 Gene Sequence Aberrations Including a Novel Deletion STAVROULA PSONI, CHRISTALENA SOFOCLEOUS, JOANNE TRAEGER-SYNODINOS, SOPHIA KITSIOU-TZELI, EMMANUEL KANAVAKIS, AND HELEN FRYSSIRA-KANIOURA Department of Medical Genetics, University of ...