Results 101 to 110 of about 1,225,345 (301)

Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source

Beyond words: investigating non-verbal indicators of collaborative engagement in a virtual synchronous CSCL environment

Frontiers in Psychology
In the future of higher education, student learning will become more virtual and group-oriented, and this new reality of academic learning comes with challenges.
Loris T. Jeitziner, Lisa Paneth, Oliver Rack, Carmen Zahn   +3 more
doaj   +1 more source

Teaching Virtual Characters to use Body Language [PDF]

, 2005
Non-verbal communication, or “body language”, is a critical component in constructing believable virtual characters. Most often, body language is implemented by a set of ad-hoc rules.We propose a new method for authors to specify and refine their ...
Friedman, Doron, Gillies, Marco
core  

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

Extraserial cues in verbal learning [PDF]

, 1966
Call number: LD2668 .T4 1966 R283Master of ...
Read, John Donald.
core  

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

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

Music training and language learning improve verbal memory performance but do not change white matter characteristics of the splenium: a longitudinal DTI study

Frontiers in Psychology
IntroductionPrevious research has suggested associations between memory performance, white matter characteristics, and training in music performance. Associations of memory performance and white matter characteristics have also been found with language ...
Anja-Xiaoxing Cui, Anja-Xiaoxing Cui, Yujin Choi, Negin Motamed Yeganeh, Nancy Hermiston, Janet F. Werker, Lara A. Boyd   +6 more
doaj   +1 more source

Building Community Amidst the Institutional Whiteness of Graduate Study: Black Joy and Maroon Moves in an Academic Marronage

Australian Journal of Social Issues, EarlyView.
ABSTRACT This article reflects on the construction of a supportive community of Black Afro‐diasporic graduate students and their supervisors researching issues relating to race in the field of education in Australia. It draws on the concept of marronage—a term rooted in the fugitive act of becoming a maroon, where enslaved people enacted an escape in ...
Hellen Magoi, Casianus Gemoh, Denise Chapman, Edmund Hypolite, Simon Angok, Melanie Baak, Joel Windle   +6 more
wiley   +1 more source

Exploratory Practice: Researching the Impact of Songs on EFL Learners' Verbal Memory [PDF]

, 2014
Traditionally popular songs have been used as a way of enhancing listening and auditory perception skills and teaching vocabulary, but not necessarily for memory recall.
Coleman, Rebecca
core   +1 more source