Results 81 to 90 of about 130,902 (295)

Long‐Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley, Merlene Peter, Heba H. Akbari, Jelena Ivanisevic, Alexander Ing, Kelly Regan‐Fendt, Patrick McMullen, Kai Lee Yap   +7 more
wiley   +1 more source

Effects of leachate-based liquid organic fertilizer on soil fertility and chili growth in biochar-amended marginal soil

Jurnal Ilmiah Pertanian
Soil fertility degradation and limited access to sustainable inputs pose major constraints in marginal agricultural lands. Organic waste leachate, although rich in nutrients, often contains phytotoxic compounds that limit its direct application as ...
Nurmaranti Alim, Muhammad Fahyu Sanjaya, Laode Muhammad Asdiq Hamsin Ramadan, Dicky Roland, Irwansyah Irwansyah, Fitri Fitri   +5 more
doaj   +1 more source

Fast Outlier Detection Using a Grid-Based Algorithm. [PDF]

PLoS ONE, 2016
As one of data mining techniques, outlier detection aims to discover outlying observations that deviate substantially from the reminder of the data. Recently, the Local Outlier Factor (LOF) algorithm has been successfully applied to outlier detection ...
Jihwan Lee, Nam-Wook Cho
doaj   +1 more source

A Novel Gain‐of‐Function ITPR1 Variant Associated With a Movement Disorder Characterized by Tremor and Dystonia

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 1,4,5‐trisphosphate receptor type 1 (ITPR1) gene encodes an endoplasmic reticulum calcium release channel, in which loss‐of‐function mutations have been associated with spinocerebellar ataxias and related neurological phenotypes. Only one gain‐of‐function mutation in the highly conserved suppressor domain of ITPR1 has been previously ...
Emilie T. Théberge, Bo Sun, Ruiwu Wang, Arezoo Mohajeri, Clara D. M. Van Karnebeek, Cornelius F. Boerkoel, Stephanie Huynh, Gabriella Horvath, S. R. Wayne Chen, Anna Lehman   +9 more
wiley   +1 more source

Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort

Annals of Neurology, EarlyView.
Objective Genomic sequencing leaves >50% of dystonia‐affected individuals without a diagnosis. Where DNA‐oriented approaches remain insufficient, integrating multiomics is essential to advance genome interpretation. Herein, we incorporated RNA sequencing (RNA‐seq) data from 167 patients with dystonia across a range of ages and presentations. Methods We
Alice Saparov, Ivana Dzinovic, Theresa Brunet, Vicente A. Yépez, Florian Hölzlwimmer, Elisabetta Indelicato, Birgit Assmann, Susann Badmann, Diana Ballhausen, Steffen Berweck, Felix Brechtmann, Melanie Brugger, Kevork Derderian, Felix Distelmaier, Philip Harrer, Denisa Harvanova, Petra Havrankova, Ann‐Kathrin Jaroszynski, Miriam Kolnikova, Robert Kopajtich, Anne Koy, Magdalena Krygier, Lukas Kunc, Katarina Kusikova, Oliver Maier, Maria Mazurkiewicz‐Bełdzińska, Christian Mertes, Ava Oberlack, Timo Roser, Alexandra Sitzberger, Ugo Sorrentino, Antonia M. Stehr, Katharina Vill, Matias Wagner, Holger Prokisch, Sylvia Boesch, Jan Necpal, Robert Jech, Juliane Winkelmann, Elisabeth Graf, Julien Gagneur, Matej Skorvanek, Michael Zech   +42 more
wiley   +1 more source

Los mapuches: cambio social y asimilación de una sociedad sin Estado

Espiral, 2012
El actual conflicto del pueblo mapuche con el estado de Chile comprende dimensiones complejas y estructurales. La imposición de un dominio territorial del Estado llevó a la condición de pobreza, reducción y transformación social de una sociedad.
Juan Pacheco Rivas
doaj  

Noncausality and Asset Pricing [PDF]

Misspecification of agents' information sets or expectation formation mechanisms maylead to noncausal autoregressive representations of asset prices. Annual US stock prices are found to be noncausal, implying that agents' expectations are not revealed to
Lof, Matthijs
core   +1 more source

Examination of weld defects by computed tomography [PDF]

, 2012
Defects in metal arc gas (MAG) welds made in S235JR low carbon steel of 6 mm thickness were examined. A sample containing lack of fusion (LOF) and pores was examined by computed tomography – CT.
B. Zorc, L. Kosec, M. Jovanović
core  

Quantum squeezing of optical dissipative structures

, 2006
We show that any optical dissipative structure supported by degenerate optical parametric oscillators contains a special transverse mode that is free from quantum fluctuations when measured in a balanced homodyne detection experiment.
, , , , , Alexeeva N. V., Drummond P. D., Drummond P. D., Drummond P. D., E Roldán, Fabre C., G. J. de Valcárcel, Gardiner C. W., Gardiner C. W., Haus H. A., I Pérez-Arjona, Lantz E., Longhi S., Lugiato L. A., Lugiato L. A., Meystre P., Reynaud S., Staliunas K., Trillo S.   +23 more
core   +1 more source

Adaptive mixing formation control of multiquadrotor unmanned aerial vehicle systems

Asian Journal of Control, EarlyView.
Abstract This paper presents a distributed adaptive mixing control (AMC) design for formation maintenance of systems of multiquadrotor UAVs (q‐UAVs) during commanded path‐tracking maneuvers. The proposed formation control scheme has a two‐level structure. The high level defines the desired trajectories for rigid and persistent formation acquisition and
Nasrettin Köksal, Barış Fidan, Ahmed Fahim Mostafa   +2 more
wiley   +1 more source