Results 81 to 90 of about 70,536 (316)

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

Subject-verb agreement: Error production by Tourism undergraduate students [PDF]

open access: yesDos Algarves, 2014
The aim of this paper, which is part of a more extensive research on verb tense errors, is to investigate the subject-verb agreement errors in the simple present in the texts of a group of Tourism undergraduate students.
Ana Paula Correia   +2 more
doaj  

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt   +9 more
wiley   +1 more source

The verb ‘to have’ in Amharic

open access: yesStudies in African Languages and Cultures, 2000
During my work on sentence schemata in Amharic the problem of formal description of the construction expressing "possession" appeared. Sentence schemata based on verbal centre required the verb ‘ to have’.
Laura Łykowska
doaj  

Features of Conceptualization and Categorization of Verbal Synonyms for ‘Providing Medical Assistance’ in Contemporary Russian

open access: yesНаучный диалог
This article is dedicated to the exploration of the conceptualization of the process of providing medical assistance through an analysis of the synonyms лечить [lechit’] (‘to treat’), врачевать [vrachevat’] (‘to heal’), and исцелять [istselyat’] (‘to ...
A. A. Galiuk, E. I. Zinovieva
doaj   +1 more source

The Type of Paired Synonym of Intransitive Verbs ke-an in Indonesian [PDF]

open access: gold, 2018
Afrinaldi Afrinaldi   +2 more
openalex   +1 more source

Neurodevelopmental and Psychiatric Studies in Children and Adolescents With Neurofibromatosis Type I: A Comprehensive Scoping Review

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A comprehensive synthesis of the broad range of neurodevelopmental and psychiatric manifestations in NF1 is needed to identify knowledge gaps and future directions for NF1 research. In the following scoping review, we identify and summarize the scope of research that examines neurodevelopmental and psychiatric manifestations, both as ...
Meera Chopra   +5 more
wiley   +1 more source

Vernacular Prefixed Verbs in the Russian Language of the XIXth Century: Problems of Synchronous& Diachronic Describing (based on the materials of vaudevilles)

open access: yesOriental Studies, 2018
The article analyzes the semantic and stylistic patterns of functioning of prefi xed verbs of vernacular origin in the artistic text of the XIXth century; sets the dynamic character of the relationship between the semantics of derivative verbal form and ...
Li Chen
doaj  

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