Results 11 to 20 of about 2,244,731 (317)

Two Novel Compound Heterozygous Mutations in the TRAPPC9 Gene Reveal a Connection of Non-syndromic Intellectual Disability and Autism Spectrum Disorder

Frontiers in Genetics, 2021
IntroductionAutism spectrum disorder (ASD) is characterized by deficits in communication, social interaction, and repetitive behavior. Up to 70% of ASD cases are linked with intellectual disability (ID).
Johannes Krämer, Meinrad Beer, Harald Bode, Benedikt Winter   +3 more
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The error in total error reduction [PDF]

Neurobiology of Learning and Memory, 2014
Most models of human and animal learning assume that learning is proportional to the discrepancy between a delivered outcome and the outcome predicted by all cues present during that trial (i.e., total error across a stimulus compound). This total error reduction (TER) view has been implemented in connectionist and artificial neural network models to ...
James E, Witnauer, Gonzalo P, Urcelay, Ralph R, Miller   +2 more
openaire   +2 more sources

Research, diagnosis and education in inborn errors of metabolism in Colombia: 20 years’ experience from a reference center

Orphanet Journal of Rare Diseases, 2018
The use of specialized centers has been the main alternative for an appropriate diagnosis, management and follow up of patients affected by inborn errors of metabolism (IEM).
Olga Y. Echeverri, Johana M. Guevara, Ángela J. Espejo-Mojica, Andrea Ardila, Ninna Pulido, Magda Reyes, Alexander Rodriguez-Lopez, Carlos J. Alméciga-Díaz, Luis A. Barrera   +8 more
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Ocular changes in premature infants [PDF]

Reviews in Clinical Medicine, 2017
Introduction: This article aimed to review the literatures on visual impairments and ocular changes in premature infants with low birth weight and gestational age.Methods: Five electronic databases including: PubMed, Web of Science, Science direct, Ovid,
Negareh Yazdani, Leyla Shahkarami, Javad Heravian Shandiz, Veda Vakili, Hadi Ostadimoghaddam, AbbasAli Yekta, Seyed Hosein Hoseini-Yazdi   +6 more
doaj   +1 more source

Errors in Errors

International Journal of Computer-Assisted Language Learning and Teaching, 2023
Automated writing evaluation (AWE) software is an increasingly popular tool for English second language learners. However, research on the accuracy of such software has been both scarce and largely limited in its scope. As such, this article broadens the field of research on AWE accuracy by using a mixed design to holistically evaluate the accuracy of ...
openaire   +1 more source

Speech errors across the lifespan [PDF]

, 2006
Dell, Burger, and Svec (1997) proposed that the proportion of speech errors classified as anticipations (e.g., " moot and mouth ") can be predicted solely from the overall error rate, such that the greater the error rate, the lower the anticipatory ...
Vousden, Janet I., Maylor, Elizabeth A.
core   +1 more source

An incidental finding in newborn screening leading to the diagnosis of a patient with ECHS1 mutations

Molecular Genetics and Metabolism Reports, 2020
Short-chain enoyl-CoA hydratase (ECHS1) is a mitochondrial beta-oxidation enzyme involved in the metabolism of acyl-CoA fatty acid esters, as well as in valine metabolism.
S. Pajares, R.M. López, L. Gort, A. Argudo-Ramírez, J.L. Marín, J.M. González de Aledo-Castillo, J. García-Villoria, J.A. Arranz, M. Del Toro, F. Tort, O. Ugarteburu, M.D. Casellas, R. Fernández, A. Ribes   +13 more
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Calculating the error in refractive error [PDF]

Eye, 2011
To demonstrate a quick way of calculating the optical difference between two refractions using vector analysis, and to express this as a score for examination purposes.An existing formula is applied, converted to a defocus equivalent, and then converted to a score.
R H, Taylor, R B, Ellingham, S, Subramaniam, L A, Wakely   +3 more
openaire   +2 more sources

Blood phenylalanine fluctuation in phenylketonuric children treated by BH4 or low-phenylalanine diet from birth

Scientific Reports, 2023
The prognosis of phenylketonuria (PKU) is related to the quality of metabolic control all life-long. PKU treatment is based on a low-Phe diet, 6R-tetrahydrobiopterin (BH4) treatment for the BH4-responsive PKU patients or enzyme replacement therapy ...
Maurane Theron, Elise Jeannesson, Marie Canton, Farès Namour, Abderrahim Oussalah, François Feillet, Arnaud Wiedemann   +6 more
doaj   +1 more source

Characterization of recombinant human lysosomal beta-hexosaminidases produced in the methylotrophic yeast Pichia pastoris

Universitas Scientiarum, 2016
β-hexosaminidases (Hex) are dimeric enzymes involved in the lysosomal degradation of glycolipids and glycans. They are formed by α- and/or β-subunits encoded byHEXA and HEXB genes, respectively.
Angela Johana Espejo Mojica, Angela Rocío Mosquera, Edwin Alexander Rodríguez-López, Dennis Johana Díaz, Laura Milena Betrán, Francy Liliana Hernández, Carlos Javier Alméciga Díaz, Luis Alejandro Barrera   +7 more
doaj   +1 more source