Results 101 to 110 of about 927,561 (290)

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Study of the Importance of Adequacy to Robot Verbal and Non Verbal Communication in Human-Robot interaction

, 2012
The Robadom project aims at creating a homecare robot that help and assist people in their daily life, either in doing task for the human or in managing day organization. A robot could have this kind of role only if it is accepted by humans.
Duhaut, Dominique, Jost, Céline, Pévédic, Brigitte Le   +2 more
core   +2 more sources

D. H. Hymes, vers une pragmatique et une anthropologie communicationnelle (version longue) [PDF]

, 2007
Cette archive est la version longue de l'article publié.Considering communication from an anthropological viewpoint, Dell Hathaway Hymes (1927) introduced the language in action – verbal and non verbal – within the sociolinguistic analysis.
Juanals, Brigitte, Noyer, Jean-Max
core   +1 more source

The Influence of Multimodal Visual Methodologies on EFL University Students’ Audio-Visual Comprehension, Verbal and Nonverbal Communication

Journal of Language and Education
Background: Technological devices and multimedia resources are enhancing verbal communication in language learning. Vodcasts, combining audiovisual material with visuals, help develop mental schemas.
Ibrahim Hassan Ali Al-jumaily, Istabraq Tariq Jawaad Alazzawi   +1 more
doaj   +1 more source

Communicative competence in a group of visually impaired children

South African Journal of Communication Disorders, 1989
Aspects of verbal and non-verbal communicative competence of five visually-impaired six and seven year old children were investigated. The Profile of Communicative Appropriateness (Penn, 1983) was used to assess communicative competence in one discourse ...
Michelle Simpson, Glenda Shapiro
doaj   +1 more source

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

Challenges for meaningful interpersonal communication in a digital era

HTS Teologiese Studies/Theological Studies, 2019
As digital tools and social networks became the main mode of interaction for many people, interpersonal communication has changed. Computer-mediated communication (CMC) has become more important than face-to-face communication in many contexts.
Elza Venter
doaj   +1 more source

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

American 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, Randi J. Hagerman, Giuseppina Spano, Flora Tassone, Giancarlo Logroscino, Andrea Bosco   +5 more
wiley   +1 more source

Non-verbal communication of compassion: measuring psychophysiologic effects

BMC Complementary and Alternative Medicine, 2011
Background Calm, compassionate clinicians comfort others. To evaluate the direct psychophysiologic benefits of non-verbal communication of compassion (NVCC), it is important to minimize the effect of subjects' expectation.
Kemper Kathi J, Shaltout Hossam A
doaj   +1 more source

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

American 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