Results 91 to 100 of about 9,441 (260)

Compilation, Annotation and Analysis of Written Text Corpora: Introduction to Methods and Tools

open access: yes, 2019
First held at the European Summer University of Cultures and Technology 2019, University of ...
openaire   +1 more source

XSL-HoReCo and GoSt-ParC-Sign: Two New Signed Language - Written Language Parallel Corpora

open access: yesLinköping Electronic Conference Proceedings
Developments in language technology targeting signed languages are lagging behind in comparison to the advances related to what is available for so-called spoken languages.1 This is partly due to the scarcity of good quality signed language data, including good quality parallel corpora of signed and spoken languages.
De Sisto, Mirella   +4 more
openaire   +1 more source

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle   +26 more
wiley   +1 more source

Disciplinary values in legal discourse: a corpus study [PDF]

open access: yesIbérica, 2011
The last 20 years have seen increasing interest in the way in which meaning is made in different professional and academic disciplines. Central to this issue is the notion of disciplinary values, that is, qualities which define what is prized or ...
Ruth Breeze
doaj  

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes   +3 more
wiley   +1 more source

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston   +35 more
wiley   +1 more source

Subordinate Clauses as Critical Features in English and French Learner Examination Corpora

open access: yesBaltic Journal of English Language, Literature and Culture, 2012
The aim of the study is to examine the syntactic pattern of the frequency of use of simple, complex and compound sentences focusing on different subordinate clauses as critical features in the written learner text corpora at different English and French
Vita Kalnbērziņa, Vineta Rūtenberga
doaj  

Using Learner Corpora to Inform Material Development and Classroom Practices

open access: yesBabylonia
This article examines how a university in Japan uses a longitudinal learner corpus to bridge the gap between research and classroom practice in a two-year English for Academic Purposes (EAP) program.
Gavin Brooks
doaj   +1 more source

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

open access: yesAmerican 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   +13 more
wiley   +1 more source

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