Results 71 to 80 of about 16,675 (221)

Molecular Characterisation of Treacher Collins Syndrome in a South African Cohort: Novel Disease-Causing Variants in TCOF1 and POLR1D. [PDF]

Mol Genet Genomic Med
Targeted next‐generation sequencing of South African patients with suspected Treacher Collins syndrome identified pathogenic variants in six cases, including multiple novel TCOF1 and POLR1D variants. These findings expand the African mutational spectrum and support panel‐based testing to improve diagnosis and genetic counselling in resource‐limited ...
Nevondwe P, Mudau M, Seymour H, Kerr R, Lombard Z, Krause A, Carstens N.   +6 more
europepmc   +2 more sources

Getting started with PM2

, 2008
1.1.1 The PM2 Programming model............................
Olivier Aumage, Luc Bougé, Raymond Namyst, Vincent Danjean, Gabriel Antoniu   +4 more
core  

Oligogenic inheritance in epilepsy: A systematic exome‐wide analysis

Epilepsia, EarlyView.
Abstract Objective Genetic factors contribute to the majority of epilepsies, but the exact genetic cause remains unknown in most patients. Incomplete penetrance and variable expressivity are frequent, and recent studies showed a burden of deleterious variants in epilepsy genes, suggesting a role for oligogenic inheritance.
Sarah Duerinckx, Barbara Gravel, Julie Soblet, Benjamin Legros, Susana Ferrao Santos, Wim Van Paesschen, Estelle Rikir, Epi25 Collaborative, Siwei Chen, Zaid Afawi, Quratulain Zulfiqar Ali, Danielle M. Andrade, Mutluay Arslan, Simona Balestrini, Carmen Barba, Tobias Baumgartner, Betül Baykan, Nerses Bebek, Felicitas Becker, Caitlin A. Bennett, Ahmad Beydoun, Francesca Bisulli, Christian Bosselmann, S. Hande Caglayan, Laura Canafoglia, Barbara Castellotti, Francine Chassoux, I‐Jun Chou, Seo‐Kyung Chung, Patrick Cossette, Chantal Depondt, Orrin Devinsky, Dennis J. Dlugos, Viola Doccini, Colin A. Ellis, Thomas N. Ferraro, Lorenzo Ferri, Mark Fitzgerald, Francesco Fortunato, Elena Freri, Tania Giangregorio, Tracy A. Glauser, Aslı Gundogdu‐Eken, Namrata Gupta, Kevin Haas, Erin L. Heinzen, Christian Hengsbach, Olivia Hoeper, Michele Iacomino, Yushi Inoue, Lara Jehi, Symon M. Kariuki, Karl Martin Klein, Susanne Knake, Andreas Koupparis, Ioanna Kousiappa, Roland Krause, Martin Krenn, Heinz Krestel, Wolfram S. Kunz, Austin Lacey, Stephan Lauxmann, Stephanie L. Leech, Gaetan Lesca, David Lewis‐Smith, Calwing Liao, Laura Licchetta, Kuang‐Lin Lin, Tarja Linnankivi, Daniel H. Lowenstein, Colin H.T. Lui, Ida Manna, Paula Marques, Patrick May, Davide Mei, RaAaella Minardi, Barbara Mostacci, Lorenzo Muccioli, Bernd A. Neubauer, Terence J. O'Brien, Savvas S. Papacostas, Elena Parrini, Manuela Pendziwiat, Francesca Ragona, Mark I. Rees, Antonella Riva, Philippe Ryvlin, Andrea Salmon, Ilaria Sammarra, Marcello Scala, Ingrid E. ScheAer, Susanne Schubert‐Bast, Paolo Scudieri, Graeme J. Sills, Sanjay M. Sisodiya, Hannah Stamberger, Ulrich Stephani, Carlotta Stipa, Pasquale Striano, Adam Strzelczyk, Rainer Surges, Toshimitsu Suzuki, Mariagrazia Talarico, George A. Tanteles, Marian Todaro, Meng‐Han Tsai, Birute Tumiene, Dilsad Turkdogan, Luc Valton, Andreas van Baalen, Annalisa Vetro, Yvonne G. Weber, Sarah Weckhuysen, Peter Widdess‐Walsh, Samuel Wiebe, Randi von Wrede, Kazuhiro Yamakawa, Zuhal Yapıcı, Fritz Zimprich, Milena Zizovic, Gábor Zsurka, Benjamin M. Neale, Samuel F. Berkovic, Solve‐RD DITF‐EpiCARE, Marc Abramowicz, Nicholas Allen, Simona Balestrini, Tobias Bartolomaeus, Ravishankara Bellampalli, Katherine Benson, Francesca Bisulli, Christian Boßelmann, Susan Byrne, Laura Canafoglia, Evelina Carapancea, Barbara Castellotti, Gianpiero Cavalleri, Roberta Cilio, Norman Delanty, Christel Depienne, Chantal Depondt, Sarah Duerinckx, Zakaria Eddafir, Kornelia Ellwanger, Silvana Franceschetti, Elena Freri, Hamidah Ghani, Tiziana Granata, Marie Greally, Renzo Guerrini, Tobias B. Haack, Eva Hammar Bouveret, Michele Iacomino, Rami Jamra, Josua Kegele, Christian Korff, Roland Krause, Alma Küchler, Robert Lauerer‐Braun, Damien Lederer, Elsa Leitão, Holger Lerche, Gaëtan Lesca, David Lewis‐Smith, Laura Licchetta, Frédéric Masclaux, Patrick May, Davide Mei, Cyril Mignot, Charissa Millevert, Raffaella Minardi, Patrick Moloney, Hiltrud Muhle, Mary O. Reghan, Joohyun Park, Elena Parrini, Manuela Pendziwiat, Konrad Platzner, Johanna Pohl, Mary Sandrine, Marcello Scala, Sanjay Sisodiya, Noor Smal, Hannah Stamberger, Pasquale Striano, Roxane van Heurck, Christina Vosseler‐Wolf, David Webb, Sarah Weckhuysen, Federico Zara, Alec Aeby, Guillaume Smits, Chantal Depondt   +192 more
wiley   +1 more source

Impact of fine particulate matter air pollution (PM2·5) on Nigerian children’s performance on tests of cognitive and neurobehavioral development at age seven years

Environment International
Background: Elevated exposures to fine particulate matter (PM2·5) air pollution threaten child health and development. Kerosene and biomass cooking fuels are a source of PM2·5 in sub-Saharan Africa.
Susan D. Duncan, Celia Yetunde Adeniyi, Folasayo I. Ayoola, Mihai Giurcanu, Tope Ibigbami, Ryan T. Chartier, Bethann Conover, Mary Nyakato, Dezheng Huo, Oladosu Ojengbede, Adegoke G. Falade, John Olalekan Taiwo, Olatunbosun G. Arinola, Samuel Adekunle, Oluseyi Fatile, Oluwafunmilade Deji-Abiodun, Iyanuoluwa M. Adebanjo, Oluwatimilehin Ojo, Awwal Adetunji Adegoke, Tanimowo Abraham, Oluwayemisi Ajao, Oluwatobiloba T. Olaniyi, Avery I. Rosado, Enioluwaduroti Johnson, Dayo Adepoju, Olusola D. Faleye, Olufadekemi Ajani, Michael J. Boivin, Michael E. Msall, Christopher O. Olopade   +29 more
doaj   +1 more source

Association of air particulate pollution with bone loss over time and bone fracture risk: analysis of data from two independent studies

The Lancet Planetary Health, 2017
Summary: Background: Air particulate matter is a ubiquitous environmental exposure associated with oxidation, inflammation, and age-related chronic disease.
Diddier Prada, PhD, Jia Zhong, ScD, Elena Colicino, PhD, Antonella Zanobetti, PhD, Joel Schwartz, ProfPhD, Nicholas Dagincourt, MSc, Shona C Fang, PhD, Itai Kloog, PhD, Joseph M Zmuda, PhD, Michael Holick, ProfPhD, Luis A Herrera, ProfPhD, Lifang Hou, ProfPhD, Francesca Dominici, ProfPhD, Benedetta Bartali, ProfPhD, Andrea A Baccarelli, ProfPhD   +14 more
doaj   +1 more source

The Programming Language pm2 for PRAM

, 1992
pm2 is a programming language for PRAM. It is based on Modula-2 with additional elements for the control of parallelism. To program efficiently and correctly with pm2 one should understand some principles of the PRAM model.
For Pram, Simo Juvaste
core  

Hybrid Temporal Autoencoder and Similarity Matching for Low Aggregation Level Long Time Series Forecasting

Journal of Forecasting, EarlyView.
ABSTRACT Deep learning‐based long time series forecasting (LTSF) has achieved high accuracy by effectively capturing the underlying trends, seasonality, and temporal dependencies within time series data. However, at the individual entity level, termed the low aggregation level (LAL), intermittency, irregularity, and data sparsity undermine the ...
Hanbyeol Park, Sunghyun Sim, Kikun Park, Yongjae Lee, Eunhee Park, Hyerim Bae   +5 more
wiley   +1 more source

Infection of spheroplasts of Pseudomonas with DNA of bacteriophage PM2

, 1971
Spheroplasts of Pseudomonas BAL-31/PM2, obtained by treatment of the bacteria with lysozyme, can be infected with purified DNA from bacteriophage PM2. After 4 h of incubation the yield of progeny phage reaches a value of 107-6×107 plaque forming units/μg
Bleichrodt, J.F., Schans, G.P. van der, Weyermans, J.P.   +2 more
core  

A Case of Distal Hereditary Motor Neuronopathy‐7 With Two Novel VWA1 Variants in Compound Heterozygosity

Neurology and Clinical Neuroscience, EarlyView.
ABSTRACT Distal hereditary motor neuronopathy‐7 (HMNR7) is an autosomal recessive VWA1‐related disorder characterized predominantly by distal motor involvement. A 41‐year‐old man with a history of childhood orthopedic surgery for foot deformities exhibited progressive distal weakness and muscle atrophy with lower limb predominance. Electrophysiological
Toshiyuki Kakumoto, Kenta Orimo, Takashi Matsukawa, Jun Mitsui, Shoji Tsuji   +4 more
wiley   +1 more source

Karakteristik fisiko kimia dan sensoris patty burger ikan patin dengan bahan pengisi pati jagung

Agrointek
Patty burger is one of the fast foods favored by the public, both children and adults. Consuming burgers for a long time can cause obesity, so other protein alternatives are sought, namely catfish as a substitute for beef. The purpose of this study is to
Emma Riftyan, Suci Rahmayani, Dewi Fortuna Ayu   +2 more
doaj   +1 more source