Results 81 to 90 of about 5,035,586 (318)

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Kinetic calculation of rarefied gaseous flows in long tapered rectangular microchannels [PDF]

, 2014
This paper was presented at the 4th Micro and Nano Flows Conference (MNF2014), which was held at University College, London, UK. The conference was organised by Brunel University and supported by the Italian Union of Thermofluiddynamics, IPEM, the ...
4th Micro and Nano Flows Conference (MNF2014), Szalmas, L   +1 more
core  

An ultra low-power hardware accelerator for automatic speech recognition [PDF]

, 2016
Automatic Speech Recognition (ASR) is becoming increasingly ubiquitous, especially in the mobile segment. Fast and accurate ASR comes at a high energy cost which is not affordable for the tiny power budget of mobile devices.
Arnau Montañés, José María, González Colás, Antonio María, Segura Salvador, Albert, Yazdani Aminabadi, Reza   +3 more
core   +1 more source

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

Particle self-diffusiophoresis near solid walls and interfaces [PDF]

, 2014
This paper was presented at the 4th Micro and Nano Flows Conference (MNF2014), which was held at University College, London, UK. The conference was organised by Brunel University and supported by the Italian Union of Thermofluiddynamics, IPEM, the ...
4th Micro and Nano Flows Conference (MNF2014), Crowdy, D   +1 more
core  

Enhancing Corrosion Resistance and Mechanical Strength of 3D‐Printed Iron Polylactic Acid for Marine Applications via Laser Surface Texturing

Advanced Engineering Materials, EarlyView.
Laser surface texturing significantly improves the corrosion resistance and mechanical strength of 3D‐printed iron polylactic acid (Ir‐PLA) for marine applications. Optimal laser parameters reduce corrosion by 80% and enhance tensile strength by 25% and ductility by 15%.
Mohammad Rezayat, Mojtaba Karamimoghadam, Mohammadreza Lalegani Dezaki, Ali Zolfagharian, Giuseppe Casalino, Antonio Mateo, Mahdi Bodaghi   +6 more
wiley   +1 more source

Multifactoring concept – A key to investigation of forced-eoiling in microsystems [PDF]

, 2009
This paper was presented at the 2nd Micro and Nano Flows Conference (MNF2009), which was held at Brunel University, West London, UK. The conference was organised by Brunel University and supported by the Institution of Mechanical Engineers, IPEM, the ...
2nd Micro and Nano Flows Conference (MNF2009), Shekriladze, IG   +1 more
core  

Characterization of Defect Distribution in an Additively Manufactured AlSi10Mg as a Function of Processing Parameters and Correlations with Extreme Value Statistics

Advanced Engineering Materials, EarlyView.
Predicting extreme defects in additive manufacturing remains a key challenge limiting its structural reliability. This study proposes a statistical framework that integrates Extreme Value Theory with advanced process indicators to explore defect–process relationships and improve the estimation of critical defect sizes. The approach provides a basis for
Muhammad Muteeb Butt, Varma Kvvssn, Hossein Laieghi, Zia Uddin, Peyman Ansari, E. Kıvanç Sadak, Can Barış Toprak, Hüseyin Kızıl, Enrico Salvati   +8 more
wiley   +1 more source

On emerging micro- and nanoscale thermofluidic technologies [PDF]

, 2009
This paper was presented at the 2nd Micro and Nano Flows Conference (MNF2009), which was held at Brunel University, West London, UK. The conference was organised by Brunel University and supported by the Institution of Mechanical Engineers, IPEM, the ...
2nd Micro and Nano Flows Conference (MNF2009), Poulikakos, D   +1 more
core  

On the Lightweight Potential of Laser Additive Manufactured NiTi Triply Periodic Minimal Sheet Lattices

Advanced Engineering Materials, EarlyView.
This study explores the lightweight potential of laser additive‐manufactured NiTi triply periodic minimal surface sheet lattices. It systematically investigates the effects of relative density and unit cell size on surface quality, deformation recovery, compression behavior, and energy absorption.
Haoming Mo, Shuo Qu, Shiming Gao, Xu Song   +3 more
wiley   +1 more source