Results 151 to 160 of about 751,624 (316)

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy   +16 more
wiley   +1 more source

Comunicación no verbal y comunicación eficaz

open access: yes, 2014
This article presents non-verbal communication, the signs and symbols which integrate it and their functioning, from the theoretical framework that deals with non-verbal signs as communicative units that intervene in any human communication act and carry
Cestero Mancera, Ana María
core  

Refining Domain‐Based Prognostication in DNM1 Encephalopathy: A Mild Phenotype Associated With a GTPase Domain Variant

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DNM1 encephalopathy is a rare autosomal dominant genetic condition characterized by a range of neurological and developmental manifestations. The typical phenotype is severe, including profound intellectual disability, treatment‐resistant epilepsy, ataxia, and structural brain abnormalities. However, milder presentations have increasingly been
Caroline Crain   +6 more
wiley   +1 more source

Verbal Assault, Shudder to Think, Swiz and Images concert flier, Sanctuary Theatre, Washington, D.C., January 9, 1988.

open access: yes, 1988
Flier for a concert featuring the punk bands Verbal Assault, Shudder to Think, Swiz, and Images. The concert was a benefit for the Afghan Refugee Fund and occurred at the Sanctuary Theatre in Washington D.C. on January 9, 1988.
Positive Force DC
core  

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

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

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

open access: yesAustralian 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   +6 more
wiley   +1 more source

‘Hurry Up and Get Me out of Here’: The Experience of People Under 65 Years (Still) Stuck in Aged Care

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT Following the Royal Commission into Aged Care Quality and Safety, the Australian Government set a target for no‐one under 65 years of age to be living in residential aged care (RAC) by 2025. The numbers of young people in residential aged care (YPIRAC) have significantly declined since the start of the targets.
Elroy Dearn   +4 more
wiley   +1 more source

IMPORTANCE AND USES OF NON-VERBAL COMMUNICATION IN BRANDING

open access: yes
reservedThis thesis investigates the multifaceted role of non-verbal communication in branding by examining theoretical frameworks, empirical evidence, and real-world case studies to comprehend its impact on contemporary marketing practices and consumer ...
MAGNO, MARCO ACHILLE
core  

The flexible use of verbal interaction coding

open access: yes, 2017
The verbal interaction coding is a quantitative technique used to encode the verbal interaction between interviewer and respondent. This technique is employed both to pretest survey questions, locating those which cause interviewer’s and respondent’s ...
marco palmieri
core  

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