Results 121 to 130 of about 331,816 (348)

Psychiatric and Cognitive Features in Italian Women With the FMR1 Premutation: A Comprehensive Assessment Using SCID‐5 and Standardized Cognitive Measures

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Women with the FMR1 premutation (PM) are at increased risk for fragile X‐associated conditions (FXPAC), including cognitive and psychiatric features collectively termed fragile X‐associated neuropsychiatric disorders (FXAND). This study is the first to systematically investigate cognitive and psychiatric features in Italian female premutation ...
Federica Alice Maria Montanaro   +5 more
wiley   +1 more source

A Translation Shift Analysis On Verb And Verb Phrase Of The Avengers Movie And Its Subtitling [PDF]

open access: yes, 2013
The objective of this research are categorizing the translation shift and the markers of translation shifts of verb and verb phrase as well as portraying the equivalence of verb and verb phrase which is found in the Avengers movie and its subtitling ...
, Dr. Anam Sutopo, M.Hum.   +2 more
core  

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

Grammatical Error Analysis in Recount Text Made by the Students of Cokroaminoto University of Palopo

open access: yesEthical Lingua: Journal of Language Teaching and Literature, 2014
This study aimed to find out (1) Grammatical errors in recount text made by the English Department students of the second and the sixth semester of Cokroaminoto University of Palopo, (2) the frequent grammatical errors made by the second and the sixth ...
Hermini Hermini
doaj  

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

The verb ʔadʒa ‘come’ in Jordanian Arabic: three levels of grammaticalization

open access: yesHumanities & Social Sciences Communications
This paper investigates the grammaticalization of the verb ʔadʒa ‘come’ in Jordanian Arabic. The study argues that the verb has been grammaticalized into three meanings that constitute three levels on the grammaticalization pathway.
Abdullah A. Jaradat   +3 more
doaj   +1 more source

Learning semantic categories of L2 verbs: The case of cutting and breaking verbs.

open access: yesPLoS ONE
To attain native-like proficiency in second-language word usage, learners have to discover intricate semantic categories in the target language. We investigated the factors influencing the development of two aspects of second-language learners' semantic ...
Noburo Saji, Chunzi Hong, Chong Wang
doaj   +1 more source

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan   +4 more
wiley   +1 more source

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