Results 61 to 70 of about 1,069,421 (301)

Energy Efficient Adaptive Network Coding Schemes for Satellite Communications

, 2017
In this paper, we propose novel energy efficient adaptive network coding and modulation schemes for time variant channels. We evaluate such schemes under a realistic channel model for open area environments and Geostationary Earth Orbit (GEO) satellites.
Coralli, Alessandro Vanelli, Ghanem, Samah A. M., Gharsellaoui, Ala Eddine, Tarchi, Daniele   +3 more
core   +1 more source

Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients

Frontiers in Pediatrics, 2021
Introduction: Combined malonic and methylmalonic aciduria (CMAMMA) is a rare metabolic disease caused by biallelic variants in ACSF3 gene. The clinical phenotype is highly heterogeneous in this disorder, ranging from asymptomatic to severe symptoms.
Ping Wang, Ping Wang, Jianbo Shu, Jianbo Shu, Chunyu Gu, Chunyu Gu, Chunyu Gu, Xiaoli Yu, Jie Zheng, Jie Zheng, Chunhua Zhang, Chunquan Cai, Chunquan Cai, Chunquan Cai   +13 more
doaj   +1 more source

A semi-supervised spam mail detector [PDF]

, 2006
This document describes a novel semi-supervised approach to spam classification, which was successful at the ECML/PKDD 2006 spam classification challenge.
Pfahringer, Bernhard
core   +2 more sources

Case Report: Novel GLA mutation in a Chinese female with renal-predominant Fabry disease and cardiac hypertrophy

Frontiers in Genetics
BackgroundFabry disease (FD) is a rare X-linked lysosomal storage disorder caused by GLA gene mutations, leading to deficient α-galactosidase A (α-Gal A) activity and progressive accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine ...
Lanxin Li, Tianyu Chang, Xichen Li, Yinglu Hao, Min Deng, Yanping Li   +5 more
doaj   +1 more source

Case Report: Japanese Siblings of Cystic Fibrosis With a Novel Large Heterozygous Deletion in the CFTR Gene

Frontiers in Pediatrics, 2022
Cystic fibrosis (CF) is a rare disease in the Japanese. The most common CFTR variant in Japanese CF patients is a large heterozygous deletion that can easily avoid detection by standard gene sequencing methods. We herein report a novel large heterozygous
Mayumi Kawase, Mayumi Kawase, Masato Ogawa, Masato Ogawa, Takayuki Hoshina, Masumi Kojiro, Miyuki Nakakuki, Satoru Naruse, Hiroshi Ishiguro, Koichi Kusuhara   +9 more
doaj   +1 more source

Adherence to Protocol Recommendations for Children With Wilms Tumour in Two Consecutive Studies in the United Kingdom and Ireland—Does Variation Matter?

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background and Aims Wilms tumour (WT) has excellent event‐free and overall survival (OS). However, small differences exist between countries participating in the same international study. This led us to examine variation in adherence to protocol recommendations as a potential contributing factor.
Suzanne Tugnait, R. Al‐Saadi, A. Lopez‐Cortes, K. Dzhuma, M. Oostveen, J. Brok, S. Irtan, M. Weeks, J. Bate, S. Baker, R. Williams, M. Powis, D. Saunders, O. Olsen, T. Watson, S. Shelmerdine, S. Vaidya, L. Howell, C. Duncan, G. M. Vujanic, C. Stiller, G. P. Balchin, T. Chowdhury, K. Pritchard‐Jones   +23 more
wiley   +1 more source

Flexible constrained sampling with guarantees for pattern mining [PDF]

, 2017
Pattern sampling has been proposed as a potential solution to the infamous pattern explosion. Instead of enumerating all patterns that satisfy the constraints, individual patterns are sampled proportional to a given quality measure.
A Giacometti, A Zimmermann, C Bucilă, CP Gomes, F Bonchi, Luc De Raedt, M Berlingerio, M Boley, MA Hasan, Matthijs van Leeuwen, S Ermon, S Nijssen, T Calders, T Guns, T Guns, Vladimir Dzyuba   +15 more
core   +3 more sources

Novel Variants of ANO5 in Two Patients With Limb Girdle Muscular Dystrophy: Case Report

Frontiers in Neurology, 2022
Here we report on two unrelated adult patients presenting with Limb girdle muscular dystrophy who were found to have novel variants in ANO5. Both patients had prominent weakness of their proximal lower limbs with mild weakness of elbow flexion and ...
Matthew Katz, Fleur C. Garton, Mark Davis, Robert D. Henderson, Pamela A. McCombe, Pamela A. McCombe   +5 more
doaj   +1 more source

Evaluating the Utility of Paired Tumor and Germline Targeted DNA Sequencing for Pediatric Oncology Patients: A Single Institution Report

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield and utility of universal paired tumor–normal multigene panel sequencing in newly diagnosed pediatric solid and central nervous system (CNS) tumor patients and to compare the detection of germline pathogenic/likely pathogenic variants (PV/LPVs) against established clinical referral criteria for cancer ...
Natalie Waligorski, Rebecca Ronsley, Shannon M. Stasi, Jeffrey Stevens, Erin R. Rudzinski, Christina M. Lockwood, Sarah E. S. Leary, Bonnie L. Cole, Michelle A. Ting, Vera Paulson   +9 more
wiley   +1 more source

A novel, resistance-linked ovine PrP variant and its equivalent mouse variant modulate the in vitro cell-free conversion of rPrP to PrPres [PDF]

, 2006
Prion diseases are associated with the conversion of the normal cellular prion protein, PrPc, to the abnormal, disease-associated form, PrPSc. This conversion can be mimicked in vitro by using a cell-free conversion assay. It has recently been shown that
Gill, Andrew C., Goldmann, Wilfred, Houston, Fiona, Kirby, Louise, Manson, Jean C.   +4 more
core   +1 more source