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A Comparative Study of “Shohare Ahoo Khanoom” and “Sister Carrie” Novels based on the Literary Creativity
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Emergence of extensive multidrug-resistant Staphylococcus aureus carrying novel Sa-MRRlsa(E) in retail food
Published 2022-09-01“…It indicated that the origin of most food-related lsa(E)-positive S. aureus in China might be associated with livestock or poultry breeding farms, and these strains may be transmitted between animals and food. S. aureus carrying novel Sa-MRRlsa(E), especially, serve as reservoirs of antibiotic resistance traits, and warrant further attention.…”
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Protecting Groups for the Synthesis of Ribonucleic Acids
Published 2001-04-01“…These methods were used for the preparation of RNA-phosphoramidites carrying novel fluoride- and photolabile sugar and nucleobase protecting groups. …”
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Whole-exome sequencing identifies two novel ALMS1 mutations in Indian patients with Leber congenital amaurosis
Published 2021-03-01“…The current study describes exome sequencing results for two unrelated Indian LCA patients carrying novel nonsense p.(Glu636*) and frameshift p.(Pro2281Leufs*63) mutations in the ALMS1 gene. …”
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Discovery of new acetylcholinesterase inhibitors for Alzheimer’s disease: virtual screening and in vitro characterisation
Published 2021-01-01“…Moderate inhibitors carrying novel scaffolds were identified and could be improved for the development of new classes of AChE inhibitors.…”
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Novel mitochondrial alanyl-tRNA synthetase 2 (AARS2) heterozygous mutations in a Chinese patient with adult-onset leukoencephalopathy
Published 2022-06-01“…Case presentation We identified a 24-year-old Chinese female patient with adult-onset leukoencephalopathy carrying novel compound heterozygous pathogenic mutations in the AARS2 gene (c.718C > T and c.1040 + 1G > A) using a whole-exome sequencing approach. …”
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The Driving Forces of Diffusion in John R. Commons’ Institutional Economics
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Case Report: Unusual Aggregation of Different Glomerulopathies in a Family Resolved by Genetic Testing and Reverse Phenotyping
Published 2022-02-01“…Renal biopsies were initially inconclusive; however, genetic testing showed that the two individuals diagnosed at different points with IgA nephropathy carried novel segregating pathogenic variants in COL4A5 gene. …”
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Oculogyric crisis mimicked epilepsy in a Chinese aromatic L-amino acid decarboxylase-deficiency patient: A case report
Published 2022-09-01“…The genetic test confirmed the patient carried novel compound heterozygous mutations in the DDC gene:c.419G>A and c.1375C>T.ConclusionThis study reported a patient with AADCD who was initially misdiagnosed as epilepsy. …”
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Label-free optical biosensors in the pandemic era
Published 2022-08-01“…The adaptability to any molecular recognition or conformational process facilitates the integration of DNA nanostructures carrying novel functions. The high sensitivity to nanoscale objects stimulates the development of ultrasensitive systems down to digital detection of single molecular binding events enhanced by nanoparticles and direct enumeration of bio-nanoparticles like viruses.…”
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Combining metagenomics and metatranscriptomics to study human, animal and environmental resistomes
Published 2020-03-01“…The emergence of multi-drug and even pan-resistant strains carrying novel antibiotic resistance genes (ARGs) and insufficient development of new antibiotics are the major reasons that limit the choice of antibiotics for treating bacterial infections. …”
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A TYK2 Gene Mutation c.2395G>A Leads to TYK2 Deficiency: A Case Report and Literature Review
Published 2020-05-01“…It was implied that this patient carried novel missense homozygous mutation (c.2395G>A, p. …”
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Identification of Novel Biallelic TLE6 Variants in Female Infertility With Preimplantation Embryonic Lethality
Published 2021-06-01“…In this study, we identified four patients carrying novel biallelic TLE6 variants in a cohort of 28 patients with preimplantation embryonic lethality by whole-exome sequencing and bioinformatics analysis, accounting for 14.29% (4/28) of the cohort. …”
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Identification of eight novel proteasome variants in five unrelated cases of proteasome-associated autoinflammatory syndromes (PRAAS)
Published 2023-08-01“…Here, we report on five unrelated patients with CANDLE/PRAAS carrying novel inherited proteasome missense and/or nonsense variants. …”
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Genotype–phenotype correlation in long QT syndrome families
Published 2015-11-01“…Families 1–4 revealed probands carrying novel variations in KCNQ1 gene along with compound heterozygosity of risk genotypes of the SCN5A, KCNE1 and NPPA gene/s polymorphisms screened. …”
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