Results 91 to 100 of about 1,024,573 (253)

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen, Monika Izdebski, Allison Paltzer, Rachel Hickey, Laura Pollard, Joshua Baker   +5 more
wiley   +1 more source

The Effects of Competing Verbal Behavior on Performance in a Math Task. [PDF]

Anal Verbal Behav, 2021
Harman MJ, Kodak T, Bohl L, Mayland T.
europepmc   +1 more source

The Dynamics of Students' Behaviors and Reasoning during Collaborative Physics Tutorial Sessions

, 2008
We investigate the dynamics of student behaviors (posture, gesture, vocal register, visual focus) and the substance of their reasoning during collaborative work on inquiry-based physics tutorials.
Ayush Gupta, Charles Henderson, David Hammer, Laura McCullough, Leon Hsu, Luke D. Conlin, Rachel E. Scherr   +6 more
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

Validation and application of the Non-Verbal Behavior Analyzer: An automated tool to assess non-verbal emotional expressions in psychotherapy. [PDF]

Front Psychiatry, 2022
Terhürne P, Schwartz B, Baur T, Schiller D, Eberhardt ST, André E, Lutz W.   +6 more
europepmc   +1 more source

Hubungan Intensitas Menonton Tayangan Stand Up Comedy dan Faktor Demografi (Usia dan Jenis Kelamin) dengan Perilaku Kekerasan Verbal pada Remaja [PDF]

, 2017
This research departs from the rampant cases of verbal violence that occurs among teenagers. One of the most popular public television programs and get high rating is a stand up comedy entertainment program in which there are many elements of violence ...
Desi , Dwi Wahyuni
core  

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

Therapists’ and patients’ verbal behavior during the application of the different components of the cognitive restructuring technique [PDF]

, 2011
El propósito del trabajo es analizar los componentes terapéuticos aplicados en la reestructuración cognitiva y la frecuencia con que cada uno de ellos se utiliza, así como el comportamiento verbal de psicólogos y pacientes en estos componentes.
Calero Elvira, Ana, Froján Parga, María Xesús, Ruiz Sancho, Elena María, Vargas de la Cruz, Ivette   +3 more
core   +1 more source

Health‐Related Quality of Life, Everyday Executive Functioning, and Eating Behavior in Adults With Bardet–Biedl Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Bardet–Biedl syndrome (BBS) is a rare genetic condition with a broad phenotypic spectrum. Knowledge about quality of life, executive functioning, and eating behavior in adults with BBS remains limited. This study aimed to assess health‐related quality of life (HRQoL), everyday executive functioning, and eating behavior in adults with BBS and ...
Cecilie Fremstad Rustad, Charlotte von der Lippe, Hilde Nordgarden, Jeanette Ullmann Miller, Mina Susanne Weedon‐Fekjær, Ragnheidur Bragadottir, Solrun Sigurdardottir   +6 more
wiley   +1 more source

Thought and Behavior Contagion in Capital Markets [PDF]

Prevailing models of capital markets capture a limited form of social influence and information transmission, in which the beliefs and behavior of an investor affects others only through market price, information transmission and processing is simple ...
Hirshleifer, David, Teoh, Siew Hong
core   +1 more source