Results 121 to 130 of about 443,633 (293)

Explicable prioritization of genetic variants by integration of rule-based and machine learning algorithms for diagnosis of rare Mendelian disorders

Human Genomics
Background In the process of finding the causative variant of rare diseases, accurate assessment and prioritization of genetic variants is essential. Previous variant prioritization tools mainly depend on the in-silico prediction of the pathogenicity of ...
Ho Heon Kim, Dong-Wook Kim, Junwoo Woo, Kyoungyeul Lee   +3 more
doaj   +1 more source

Cancer: From a Genetic Disorder to a Systemic Disease

Advanced Science, EarlyView.
Ada Hang‐Heng Wong, Yuming Hu
wiley   +1 more source

Elastic Fast Marching Learning from Demonstration

Advanced Intelligent Systems, EarlyView.
This article presents Elastic Fast Marching Learning (EFML), a novel approach for learning from demonstration that combines velocity‐based planning with elastic optimization. EFML enables smooth, precise, and adaptable robot trajectories in both position and orientation spaces.
Adrian Prados, Brendan Hertel, Ramon Barber, Reza Azadeh   +3 more
wiley   +1 more source

Tissue‐Resident Myeloid and Histiocytic Cells in Health and Disease: Novel Emerging Concepts

American Journal of Hematology, EarlyView.
ABSTRACT Although all myeloid cells are considered to derive from hematopoietic stem cells, the cells in each myeloid lineage are heterogeneous populations, and their distribution and functions vary, depending on underlying physiologic and pathologic processes, age, sex, and genetic and epigenetic signatures.
Peter Valent, Johann Wojta, Petri T. Kovanen, Olivier Hermine, Falko Fend, Karl Sotlar, Hildegard Greinix, Klaus Geissler, Karin Hartmann, Juliana Schwaab, Marco Herling, Laura Boccuni, Lukas Kazianka, Max Vincent John, Wolfgang R. Sperr, Carina Zierfuss, Alexandar Tzankov, Christian Sillaber, Milen Minkov, Gregor Hoermann, Matthew Collin, Hans‐Peter Horny, Torsten Haferlach, Maria Sibilia, Julien Haroche, Paul La Rosée, Alberto Orfao, Michel Arock   +27 more
wiley   +1 more source

Algorithm for Searching the Optimal Regulator Supply Mode in the Process of Manufacturing Polymer Products

Инженерные технологии и системы
Introduction. The high demand for polymer products creates the need for constant mo­dernization of the technological aspects of their production, increasing the efficiency of which is impossible without a model description and solving problems of ...
Eldar N. Miftakhov
doaj   +1 more source

Facts and Misfacts on D‐Dimer Testing. Consensus Guidance From the Italian Society on Thrombosis and Hemostasis (SISET)

American Journal of Hematology, EarlyView.
ABSTRACT D‐dimer defines degradation products derived from the proteolysis mediated by plasmin on cross‐linked fibrin. The evidence‐based use of D‐dimer in some conditions has been consolidated. Currently, however, there is an entrenched prescription of D‐dimer testing to screen otherwise healthy subjects that may induce prescribing physicians to start
Armando Tripodi, Walter Ageno, Luca Barcella, Antonio Coppola, Marcello Di Nisio, Massimo Franchini, Monia Marchetti, Rossella Marcucci, Marco Marietta, Pasquale Pignatelli, Domenico Prisco, Valerio De Stefano   +11 more
wiley   +1 more source

Clinically Irrelevant Terminal 16q21 Deletion Detected by NIPT Is Attributable to Inherited Fragility at FRA16B

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genome‐wide non‐invasive prenatal testing (NIPT) is a powerful tool for prenatal detection of the common aneuploidies causing Down‐, Edwards‐, and Patau syndrome. Its genome‐wide reach also enables the detection of unbalanced structural chromosomal abnormalities.
Servi J. C. Stevens, Wanwisa van Dijk, Nicole Y. Souren, Merryn V. E. Macville, Guillaume van de Zande, Brigitte H. W. Faas, Bart de Koning, Arthur van den Wijngaard, Sonja de Munnik, Masoud Zamani Esteki   +9 more
wiley   +1 more source

Paternity testing for crab‐eating macaques and rhesus macaques using microsatellite markers

Animal Models and Experimental Medicine, EarlyView.
In our study, a total of 143 crab‐eating macaques and 52 rhesus macaques were collected. Their blood was collected and DNA was extracted. Polymerase Chain Reaction amplification and capillary electrophoresis detected the microsatellite markers. If the same genotype could be found in all microsatellite markers in the suspected parents, they were ...
Yiming Yuan, Tianqi Sun, Lu Zhang, Wensheng Zhang, Teng Meng, Jianhua Zheng, Rui Zhang, Lei Lu, Zirong Pu, Yan Li, Yefeng Qiu   +10 more
wiley   +1 more source

Clinical and Molecular Genetic Characterization of Landau Kleffner Syndrome: An Observational Cohort and Experimental Study

Annals of Neurology, EarlyView.
Objective Landau–Kleffner syndrome (LKS), is a rare, poorly‐understood epileptic encephalopathy with spike–wave activation in sleep associated with mutations in GRIN2A, encoding the N‐Methyl‐D‐Aspartate receptor (NMDAR) GluN2A subunit. Physicians rely on empirical treatments, with scarce information on treatment efficacy and outcomes.
Adeline Ngoh, Maria Clark, Rebecca Greenaway, Xiumin Chen, Kimberley M. Reid, Katy Barwick, Esther Meyer, Dale Moulding, Natalie Trump, J. Helen Cross, Sean D. Fraser, Lachlan de Hayr, Dimitri M. Kullmann, Joseph W. Lynch, Robert J. Harvey, Manju A. Kurian   +15 more
wiley   +1 more source

Resilience to Endoplasmic Reticulum Stress Mitigates Membrane Hyperexcitability Underlying Late Disease Onset in a Murine Model of SCA6

Annals of Neurology, EarlyView.
Objective An enduring puzzle in many inherited neurological disorders is the late onset of symptoms despite expression of function‐impairing mutant protein early in life. We examined the basis for onset of impairment in spinocerebellar ataxia type 6 (SCA6), a canonical late‐onset neurodegenerative ataxia which results from a polyglutamine expansion in ...
Haoran Huang, Taylor L. Charron, Min Fu, Miranda Dunn, Deborah M. Jones, Praveen Kumar, Satoshi Ishishita, Allan‐Hermann Pool, Ashwinikumar Kulkarni, Genevieve Konopka, Vikram G. Shakkottai   +10 more
wiley   +1 more source