[PDF] Top 20 La Modernidad estética: una noción para repensar
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The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy
... Results: In three individuals with developmental delay we identified heterozygous de novo missense variants in TUBA1A using exome sequencing. While the c.1307G > A, p.(Gly436Asp) variant was novel, the two ... See full document
13
Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients
... excessive crying for a few hours. There was no associated fever, vomiting or history of drug intake. He was the first born at term to healthy consanguineous parents from Pakistan. At birth, the child was diagnosed ... See full document
8
Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome
... wide spectrum of phenotypic severity associated with β 4Galt7-deficiency seems to exist, sug- gesting that patients with milder phenotypes may lack some features that have been associated with ... See full document
8
The Frequency of Klebsiella pneumoniae Strains Producing Extended-Spectrum Beta-Lactamases (ESBL) with Phenotypic and Genotypic Methods in Hospitals of Ardebil
... In a study Mousavian and et al (2011) in Ahvaz from 420 collected isolates from Enterobacteriaceae, 84 subjects (20%) were Klebsiella pneumonia that 45.4% produced extended-spectrum beta lactamase (ESBLs) with ... See full document
14
Phenotypic switching of Cryptococcus neoformans occurs in vivo and influences the outcome of infection
... Cryptococcosis affects 5–30% of patients with AIDS. It is caused by Cryptococcus neoformans, an encapsulat- ed yeast that is acquired by inhalation and ultimately results in a chronic meningoencephalitis with a high ... See full document
10
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.
... who self-identify as Jewish (e.g., Hungary, Czech Republic, France, Germany, Italy, Poland Spain, Russia, and UK). BRCA1 c.5266dup is a founder mutation thought to have originated 1800 years ago in Scandinavia/Northern ... See full document
127
Phenotypic and molecular characterization of SHV, tem, OXA and Extended Spectrum β lactamase produced by Klebsiella pneumonia isolates in a Adjara Hospital
... ESBLs are a group of enzymes encoded by genes described predominantly on plasmid that are common among Enterobacteriaceae (Poole, 2004). ESBL are an increasingly important cause of transferable multidrug resistance in ... See full document
368
Bayesian Analysis of Mutational Spectra
... Studies that examine both the frequency of gene mutation and the pattern or spectrum of mutational changes can be used to identify chemical mutagens and to explore the molecular mechanisms of mutagene- sis. ... See full document
9
Validity and reliability of the WORRY-SR: a dimensional approach to the assessment of GAD spectrum
... a spectrum approach to GAD emphasizing soft signs and symptoms as well as a wide range of syndrome-level manifestations, that are surrounding the core features of the DSM-5 GAD diagnostic ...The spectrum ... See full document
6
Alstrom syndrome (OMIM 203800): a case report and literature review
... AS is an autosomal-recessive disease that demonstrates intrafamilial and interfamilial variation. To date, a total of 81 disease-causing ALMS1 mutations have been reported, including the 2 reported from our group [11]. A ... See full document
5
The aggrecanopathies; an evolving phenotypic spectrum of human genetic skeletal diseases
... broad phenotypic spectrum including spondyloepimetaphyseal dysplasia (SEMD) [12], spon- dyloepiphyseal dysplasia Kimberley type (SED) [13], familial osteochondritis dissecans [14] and various un- defined ... See full document
63
CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis
... mutations expanding the CNTNAP1 -related phenotypic spectrum to a severe CNS disorder with hypomyelinating leukodystrophy and peripheral neuropathy, with or without arthrogryposis.. METH[r] ... See full document
73
A multicenter study on Leigh syndrome: disease course and predictors of survival
... Results: A total of 130 patients were included (78 males; 52 females), of whom 77 patients had identified pathogenic mutations. The median age of disease onset was 7 months, with 80.8% of patients presenting by the age ... See full document
106
Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations
... Patient 1 presented with adult-onset cerebellar ataxia, chronic kidney disease, and diabetes, whereas patient 2 had myoclonic epilepsy and cerebellar ataxia; both harbored the novel m.8782G>A; p.(Gly86*) mutation. ... See full document
6
The phenotypic manifestations of rare genic CNVs in autism spectrum disorder
... Random forests, a type of classi fi cation and regression tree recursive partitioning, were employed to identify more homogeneous subsets of the heterogeneous clinical groups based on their CNV carrier status, 29 and to ... See full document
64
Developing a Genetic System in Deinococcus radiodurans for Analyzing Mutations
... 2002 rpoB mutation conferring rifampicin resistance in Strepto- lecular genetic insights. Clin. Microbiol. Rev. 8: 496–514. coccus pyogenes. Antimicrob. Agents Chemother. 46: 1571–1573. Neilsen, K., P. Hindersson, N. ... See full document
81
HIV reservoirs in vivo and new strategies for possible eradication of HIV from the reservoir sites
... Abstract: Even though the treatment of human immunodeficiency virus (HIV)-infected individuals with highly active antiretroviral therapy (HAART) provides a complete control of plasma viremia to below detectable levels ... See full document
6
Mutational spectrum of adult T-ALL
... pathway associated cadherin FAT1, and in epigenetic regulators (MLL2, ...heterogeneous mutational spectrum, but also variable subclonal allele frequencies implicated in therapy resistance and ... See full document
105
Phenotypic screening and genotypic characterization of extended spectrum beta lactamase producing genes bla tem, bla shv, bla ctx m among uropathogenic escherichia coli
... of phenotypic expression and genotypic detection of ESBL: The presence of combinational genes signifies the rate of increase in β-lactamase production also high and persistent ...behind, phenotypic ... See full document
98
Phenotypic and genotypic characterizations of extended-spectrum beta-lactamase-producing <em>Escherichia coli</em> in Thailand
... In 2013, researchers reported high resistance to cefotaxime, ceftriaxone, and ceftazidime, and only some isolates were resistant to ciprofloxacin while most strains were susceptible [r] ... See full document
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