Results 31 to 40 of about 1,174,028 (302)
Frontiers in Genetics, 2023 Defects in FARS2 are associated with either epileptic phenotypes or a spastic paraplegia subtype known as SPG77. Here, we describe an 8-year-old patient with severe and complicated spastic paraplegia, carrying a missense variant (p.Pro361Leu) and a novel
Elena Panzeri +5 more
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Does Deleting Dendritic Cells Delete Autoimmunity? [PDF]
Immunity, 2010 A role for dendritic cells (DCs) in autoimmunity remains to be fully delineated. In this issue of Immunity, Teichmann et al. (2010) reveal critical functions for DCs in augmenting, but surprisingly not in initiating, spontaneous autoimmune disease.
Platt, Andrew M., Randolph, Gwendalyn J.
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Neuropathology of 16p13.11 deletion in epilepsy [PDF]
, 2012 16p13.11 genomic copy number variants are implicated in several neuropsychiatric disorders, such as schizophrenia, autism, mental retardation, ADHD and epilepsy.
Martinian, L. +4 more
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Self Injury in 1p36 deletion syndrome [PDF]
, 2009 Studies of 1p36 deletion syndrome have focused on physical characteristics with limited exploration of the behavioural phenotype. When behavioural features have been reported, self-injury and aggression are noted.
Marr, Abby
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mBioA deletion hotspot within the non-structural protein 1 (NSP1) gene (locus 500–532) has been observed in severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) genomes analyzed by next-generation sequencing.
Kaya Miyazaki +4 more
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A Binary Deletion Channel With a Fixed Number of Deletions [PDF]
Combinatorics, Probability and Computing, 2014 Suppose a binary string x = x1 . . . xn is being broadcast repeatedly over a faulty communication channel. Each time, the channel delivers a fixed number m of the digits (m < n) with the lost digits chosen uniformly at random and the order of the surviving digits preserved. How large does m have to be to reconstruct the message?
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On deletion in Delaunay triangulations [PDF]
Proceedings of the fifteenth annual symposium on Computational geometry, 1999 This paper presents how the space of spheres and shelling may be used to delete a point from a d-dimensional triangulation efficiently. In dimension two, if k is the degree of the deleted vertex, the complexity is O(k log k), but we notice that this number only applies to low cost operations, while time consuming computations are only done a linear ...
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Fine mapping of hepatitis B virus pre-S deletion and its association with hepatocellular carcinoma
, 2014 Background Naturally occurring pre-S deletion mutants have been identified in hepatitis B virus (HBV)-related hepatocellular carcinoma (HCC). Aims This study investigated whether specific deletions within the pre-S region were associated with HCC ...
Kao, Jia-Horng;Liu, Chun-Jen;Jow, Guey-Mei;Chen, Pei-Jer;Chen, Ding-Shinn;Chen, Bing-Fang +1 more
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Copy number variation screen identifies a rare de novo deletion at chromosome 15q13.1-13.3 in a child with language impairment [PDF]
, 2015 A significant proportion of children (up to 7% in the UK) present with pronounced language difficulties that cannot be explained by obvious causes like other neurological and medical conditions.
Dianne F Newbury +37 more
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Reconsidering the variable context: A phonological argument for (t) and (d) deletion [PDF]
, 2020 There have been a number of studies investigating the phenomenon of t-d deletion in English, the process through which /t/ or /d/ can be deleted in word final Ct or Cd coda clusters.
Kasstan, J., Johnson, W., Amos, J.
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