Results 221 to 230 of about 271,765 (300)

Feasibility and Preliminary Impacts of a Stress Reduction Intervention for Caregivers of Adolescents and Young Adults With Intellectual and Developmental Disabilities. [PDF]

J Appl Res Intellect Disabil
Bodde AE, Helsel BC, Willis E, Montgomery RN, Ptomey LT, Forseth B.   +5 more
europepmc   +1 more source

Recurrent Genomic Alterations in BCRi‐Experienced CLL Patients Treated With Venetoclax: Extended Phase 2 Follow‐Up

American Journal of Hematology, EarlyView.
Jennifer A. Woyach, Relja Popovic, Emily L. Rossi, Sanjana Singh, Toshihiko Oki, Tanya S. Rosenberg, Chen Qian, Michael Moran, Zihuan Liu, Michelle Boyer, Jeffrey Jones, Richard R. Furman, William Wierda, Jason Gotlib, Stephen J. Schuster, Brenda Chyla, Matthew S. Davids   +16 more
wiley   +1 more source

Developmental and Phenotypic Outcomes in Mild Phenylalanine Hydroxylase Deficiency

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Benign hyperphenylalaninemia (bHPA) is defined as elevated phenylalanine (Phe) levels remaining ≤ 360 μmol/L (6 mg/dL) and not requiring medical intervention. Individuals with bHPA may demonstrate a rise in their Phe levels > 360 μmol/L, effectively developing a mild PKU phenotype requiring therapy to prevent neurocognitive complications. This
Aaron Williams, Kristian Divin, Lindsay C. Burrage, William J. Craigen, Fernando Scaglia, Claudia Soler‐Alfonso, V. Reid Sutton, Kevin E. Glinton, Ronit Marom   +8 more
wiley   +1 more source

Associations of Sleep, Screen Time, and Extracurricular Activities With Cognitive Development: A Longitudinal Study. [PDF]

J Adolesc
Zheng J, Berg E, Byrne ML, Rakesh D.
europepmc   +1 more source

Neoplatonic Influence in the Writings of Robert Grosseteste [PDF]

, 2008
Hendrix, John S
core   +1 more source

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

Effect of Dual-Task Training on Cognitive Function and Physical Condition in Adults With Intellectual Disabilities. [PDF]

J Appl Res Intellect Disabil
Gutiérrez-Cruz C, Ruiz-Perálvarez FJ, Del-Cuerpo I, Chirosa-Ríos LJ, Janicijevic D.   +4 more
europepmc   +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

'Give People More Time and Take the Time to Explain Things Properly': Cervical Screening Experiences of People With Intellectual Disability. [PDF]

J Appl Res Intellect Disabil
Strnadová I, Refalo JL, Power R, Basckin C, Ussher J, Winkler L, Jolly H, Bateson D.   +7 more
europepmc   +1 more source

Humanism and Disegno: Neoplatonism at the Accademia di San Luca in Rome [PDF]

, 2007
Hendrix, John S
core   +1 more source