Results 151 to 160 of about 182,279 (259)

Predictors of Job Satisfaction of Frontline Staff Working in Supported Accommodation Services for People With Intellectual Disabilities. [PDF]

J Appl Res Intellect Disabil
Humphreys L, Bigby C.
europepmc   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Digital psychotherapeutic interventions to reduce dermatological symptom burden: Development and testing of MindMySkin. [PDF]

JAAD Int
Chua JY, Long V, Yeo PM, Ding J, Dua J, Chandran NS, Lim Q, See Tow HX, Sim W, Chong WI, Suendermann O, De Araujo DP, Valderas JM, Phan P, Hsu KJ, Choi E.   +15 more
europepmc   +1 more source

Neoplatonism and Paramadvaita [PDF]

, 2013
Just, Michal
core   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Digital Pathways to Family Bonds: Exploring WhatsApp Video Calls Adoption by Older Adults With Intellectual Disability in Out-of-Home Residence. [PDF]

J Appl Res Intellect Disabil
Shpigelman CN, Isaacson M, Cohen-Nudelman A.   +2 more
europepmc   +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

Communicating to the Intellect, Heart, and Person: A Model Describing Participants' Experience of Goals of Care Discussions Conducted During Acute Inpatient Care. [PDF]

Palliat Med Rep
Lee JS, Fu KJXY, Wiryasaputra L, Lim CZQ, Patinadan PV, Ong JYJ, Ho AHY, Yung TSH.   +7 more
europepmc   +1 more source

Artificial Intelligence and Angelology [PDF]

, 2011
Kainz, Howard P.
core   +1 more source

On One Attribute of the Active Intellect in Aristotle

Philosophy. Journal of the Higher School of Economics, 2018
openaire   +2 more sources