Results 81 to 90 of about 225,006 (303)

Correcting the radar rainfall forcing of a hydrological model with data assimilation: application to flood forecasting in the Lez Catchment in Southern France [PDF]

, 2012
The present study explores the application of a data assimilation (DA) procedure to correct the radar rain- fall inputs of an event-based, distributed, parsimonious hy- drological model.
Borrell-Estupina, Valérie, Bouvier, Christophe, Coustau, Mathieu, Harader, Elizabeth, Piacentini, Andrea, Ricci, Sophie, Thual, Olivier   +6 more
core   +3 more sources

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta, Lynette C. Rives, T. Andrew Burrow, Thomas A. Cassini, Rory J. Tinker, Amy K. Robertson, Kimberly M. Ezell, Rizwan Hamid, Joy D. Cogan, John A. Phillips III   +9 more
wiley   +1 more source

Microvariation in the second form of the infinitive in Campania

Isogloss
Campanian dialects such as Neapolitan feature a so-called ‘second form of the infinitive’ (SFI), a form consisting of the bare verbal stem, which can be used after functional verbs.
Kim Groothuis, Mirella De Sisto
doaj   +1 more source

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta, Kaitlyn N. Bloom, Jerry Vockley, Angela R. Grochowsky, Neena S. Agrawal, Ellen W. Strickler, Natalie N. Owen, Erica T. Gray, B. Lakshitha A. Perera, Eric R. Gamazon, Lynette C. Rives, Hua‐Chang Chen, Qi Liu, Rizwan Hamid, Joy D. Cogan, John A. Phillips III, Thomas A. Cassini, Bryce A. Schuler   +17 more
wiley   +1 more source

Novel MYL1 Intron Variant With Expanded Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal ...
Maria Barington, Marie Balslev‐Harder, Thomas Krag, Thomas van Overeem Hansen, Camilla Bernt Wulff, Ulrik Lausten‐Thomsen, Tina Duelund Hjortshøj, Elsebet Østergaard   +7 more
wiley   +1 more source

Towards a Long-Term Reanalysis of Land Surface Variables over Western Africa: LDAS-Monde Applied over Burkina Faso from 2001 to 2018

Remote Sensing, 2019
This study focuses on the ability of the global Land Data Assimilation System, LDAS-Monde, to improve the representation of land surface variables (LSVs) over Burkina-Faso through the joint assimilation of satellite derived surface soil moisture (SSM ...
Moustapha Tall, Clément Albergel, Bertrand Bonan, Yongjun Zheng, Françoise Guichard, Mamadou Simina Dramé, Amadou Thierno Gaye, Luc Olivier Sintondji, Fabien C. C. Hountondji, Pinghouinde Michel Nikiema, Jean-Christophe Calvet   +10 more
doaj   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Ecohydrological land reanalysis

, 2021
The accurate estimation of terrestrial water and vegetation is a grand challenge in hydrometeorology. Many previous studies developed land data assimilation systems (LDASs) and provided global-scale land surface datasets by integrating numerical simulation and satellite data.
Sawada, Yohei, Tsutsui, Hiroyuki, Fujii, Hideyuki, Koike, Toshio   +3 more
openaire   +2 more sources

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

Monitoring changes in precipitation and radiative energy using satellite data and climate models [PDF]

, 2009
Current changes in the tropical hydrological cycle, including water vapour and precipitation, are presented over the period 1979-2008 based on a diverse suite of observational datasets and atmosphere-only climate models.
Allan, R.P., John, V.O.
core