Results 141 to 150 of about 322,854 (335)

Effects of deafness on acoustic characteristics of American English tense/lax vowels in maternal speech to infants [PDF]

open access: yes, 2012
Recent studies have demonstrated that mothers exaggerate phonetic properties of infant-directed (ID) speech. However, these studies focused on a single acoustic dimension (frequency), whereas speech sounds are composed of multiple acoustic cues. Moreover,
Bergeson, Tonya R.   +1 more
core   +1 more source

Chromosome 3q22.2‐q26.2 Interstitial Deletion in a Patient With Wisconsin Syndrome, Blepharophimosis‐Ptosis‐Epicanthus Inversus Syndrome, Dandy‐Walker Malformation, Pierre Robin Sequence, and Recurrent Infections

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wisconsin syndrome is a very rare genetic condition characterized by coarse facies, prominent nasal tip, bushy high arched/upsweeping eyebrows, and a full/everted lower lip. Deletion of chromosome 3q24q25 region is considered critical for its manifestation.
Pankaj Prasun   +2 more
wiley   +1 more source

Comprehension problems of embodied metaphors in 5 to 7 year-old hearing impaired Persian speaking children

open access: yesFunction and Disability Journal, 2019
Background: In cognitive linguistics, the key factor in understanding of the abstract and metaphorical concepts is the individuals’ embodied experiences sensed by their body.
Vahideh Soltani   +3 more
doaj  

Resolving the Diagnostic Odyssey in Inherited Retinal Dystrophies Through Long‐Read Genome Sequencing

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Inherited retinal dystrophies (IRDs) inherited are visually disabling monogenic diseases with remarkable genetic and phenotypic heterogeneity. Mutations in more than 300 different genes have been identified as disease‐causing. The genetic diagnosis of IRDs has significantly advanced with the integration of Next Generation Sequencing (NGS ...
Gerardo E. Fabian‐Morales   +6 more
wiley   +1 more source

Gastrointestinal Issues in CHARGE Syndrome: Prevalence, Patterns, and Constipation‐Related Quality of Life

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gastrointestinal (GI) symptoms are common in CHARGE syndrome, but their frequency and characteristics remain poorly documented due to the complex nature of CHARGE syndrome. This study aimed to determine the prevalence of GI issues in CHARGE syndrome and their impact on quality of life (QoL).
Annie Kakamousias, Kim Blake
wiley   +1 more source

Development of communication skills in hearing-impaired children [PDF]

open access: yes
Стаття присвячена проблемі формування комунікативної компетентності дітей з порушеннями слуху. Проаналізовані сучасні європейські тенденції в організації допомоги дітям зазначеної категорії.
Жук, В.В.
core  

Home - About - Disclaimer - Privacy