نتایج جستجو برای: de novo programming
تعداد نتایج: 1852646 فیلتر نتایج به سال:
The occurrence of de novo psychogenic seizures after epilepsy surgery is rare, and is estimated in 1.8% to 3.6%. Seizures after epilepsy surgery should be carefully evaluated, and de novo psychogenic seizures should be considered especially when there is a change in the ictal semiology. We report a patient with de novo psychogenic seizures after anterior temporal lobe removal for refractory tem...
SUMMARY Formation of de novo intracranial aneurysms is rare. Their etiology is not known, but they are seen in patients with inherited collagen disorders, polycystic kidney disease, and familial history of aneurysms. Most de novo intracranial aneurysms are found 3-20 years after diagnosis of the initial aneurysm. We report the imaging findings in a 46-year-old man who developed a de novo intrac...
We report herein a case with dysmorphic features, polysyndactyly and psychomotor mental retardation, who had an apparently balanced de novo translocation between chromosomes 8 and 13 as well as a de novo insertion within chromosome 2 itself. This case is worth mentioning in the sense that it bears two de novo rearrangements with five breakpoints. The correlation between the possible disrupted g...
De novo Sequencing of peptides is a challenging task in proteome research. While there exist reliable DNA-sequencing methods, the highthroughput de novo sequencing of proteins by mass spectrometry is still an open problem. Current approaches suffer from a lack in precision to detect mass peaks in the spectrograms. In this paper we present a novel method for de novo peptide sequencing based on a...
BACKGROUND Apparently balanced chromosomal rearrangements can be associated with an abnormal phenotype, including intellectual disability and autism spectrum disorder (ASD). Genome-wide microarrays reveal cryptic genomic imbalances, related or not to the breakpoints, in 25% to 50% of patients with an abnormal phenotype carrying a microscopically balanced chromosomal rearrangement. Here we perfo...
Emerging evidence indicates that epileptic encephalopathies are genetically highly heterogeneous, underscoring the need for large cohorts of well-characterized individuals to further define the genetic landscape. Through a collaboration between two consortia (EuroEPINOMICS and Epi4K/EPGP), we analyzed exome-sequencing data of 356 trios with the ‘‘classical’’ epileptic encephalopathies, infantil...
Whether Golgi biogenesis occurs by self-assembly or around a pre-existing template is currently a matter of debate. Recent studies have shown that Golgi structural proteins are more dynamic than previously thought, suggesting that self-assembly of the Golgi complex may be possible.
We describe an alternative peroxisome formation pathway in yeast pex3 and pex19 cells, which relies on the existence of small peroxisomal remnants that are present in these cells. This groundbreaking result challenges current models prescribing that peroxisomes derive de novo from the ER. Our data also has major implications for the sorting pathway of specific peroxisomal membrane proteins (PMP...
Overview MS/MS spectra of known and unknown peptides were used to study the performance of several de novo sequencing and database search programs. Proteins of the unknown peptides are not in databases, thereby necessitating de novo sequencing for identification. Three de novo sequencing programs, PEAKS, BioAnalyst, and Lutefisk were compared in this study. PEAKS provided the most reliabl...
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