Results 131 to 140 of about 123,842 (329)

Interoperability of audio corpora : the case of the french corpora

open access: yes, 2006
We present here the choices which were made within the framework of three oral corpora projects : Socio-linguistics studies on Orleans (ESLO), Phonology of the Contemporary French (PFC), The Archivage corpus of the LACITO lab. This comparative presentation of three corpora of audio linguistic resources comes from a analysis about the options the ...
Baude, Olivier   +3 more
openaire   +1 more source

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy   +15 more
wiley   +1 more source

The Causa Corpora [PDF]

open access: yes, 2016
Unlike the technological virtual world, the world of the stage is exposed, and the individual body of every actor is vulnerable. Actors are confronted with the idiosyncrasies of the body. Actors are at their mercy. At the same time, the intelligence and dignity of their anatomy is obvious.
openaire   +2 more sources

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone   +13 more
wiley   +1 more source

Do Influential Articles on the Genetics of Autism Show Evidence of Engagement With the Autistic Community?

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Investigations into the etiology and genetic basis of autism continue to drive much autism research, yet reports are emerging of this research not aligning with priorities of autistic people. Engagement of autistic people in the research process is a key way to take their perspectives on board.
Heidi Kristiina Kaljusto   +2 more
wiley   +1 more source

Genome‐Wide Insights and Polygenic Risk Scores in Common Epilepsies: A Narrative Review

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT The research of single gene‐related disorders or pathogenic copy‐number variations (CNVs) has given a significant impetus to the shift from a diagnostic work‐up focused on epileptic syndromes to genomic approaches in individuals with severe pediatric‐onset epilepsies and in developmental and epileptic encephalopathies.
Mario Mastrangelo   +5 more
wiley   +1 more source

À la croisée des corpus et de la phraséologie : une proposition d’outil informatique [PDF]

open access: yesStudii de Lingvistica, 2017
Corpora are currently enjoying ever-increasing success, and are no longer solely the domain of corpus linguists. They provide us with a picture of language as described by John Sinclair: on average about half of any text consists of phraseological units
Jean-Pierre Colson
doaj  

A scoping review of non‐binary research in “Australian” social sciences: Community, solidarity, resilience and resisting marginalisation

open access: yesAustralian Journal of Social Issues, EarlyView.
Abstract Non‐binary and genderqueer identities are increasingly discussed in public discourse and academia, but there remains a dearth of academic literature centred on non‐binary people's lives and experiences. When non‐binary people are included in research, it is frequently as an additive to explorations of trans identities and subsumed under the ...
Lucy Nicholas, Sal Clark, Chloe Falzon
wiley   +1 more source

Home - About - Disclaimer - Privacy