Results 101 to 110 of about 299,396 (174)

IMRMB-Net: A lightweight student behavior recognition model for complex classroom scenarios. [PDF]

PLoS One
Feng C, Luo Z, Kong D, Ding Y, Liu J.
europepmc   +1 more source

Presenting Clinical Information on Rare Chromosome 6 Disorders via a Parent‐Centered Website: Parental and Professional Views

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The scarcity of clinical information surrounding rare chromosome disorders poses challenges for parents and clinicians. To bridge this gap for chromosome 6 disorders, the Chromosome 6 Project collects detailed genotype and phenotype data, aiming to provide aberration‐specific phenotype information to parents via an interactive website.
Eleana Rraku, Aafke Engwerda, Tyler D. Medina, Morris A. Swertz, Lennart F. Johansson, Conny M. A. van Ravenswaaij‐Arts, Imke Christiaans   +6 more
wiley   +1 more source

Object fine-grained discrimination as a sensitive cognitive marker of transentorhinal integrity. [PDF]

Commun Biol
Delhaye E, Besson G, Bahri MA, Bastin C.
europepmc   +1 more source

Exploring Oral Health Related Quality of Life in Rett Syndrome Using Directed Content Analysis

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT No validated oral health‐related quality of life (OHRQOL) instrument currently exists for those with severe intellectual and developmental disabilities and who communicate non‐verbally. This qualitative study aimed to explore the domains that were important to the oral health‐related quality of life in individuals with Rett syndrome (RTT).
Yvonne Yee Lok Lai, Jenny Anne Downs, Helen Margaret Leonard, Laurence James Walsh, Sobia Zafar   +4 more
wiley   +1 more source

Memory Monitoring Recognition Test (MMRT), a new measurement of stimular source monitoring: Software and comprehension. [PDF]

PLoS One
Martínez-Suárez PC, Valdevila Figueira JA, Luna-Cambi JM, Guerrero-Granda CE, Santiesteban RV.   +4 more
europepmc   +1 more source

Parental Communication With their Children about Cancer Risk and DTC Cascade Genetic Testing: Implications for Genetic Education and Counseling

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cascade genetic testing for cancer risk can influence relatives' health outcomes, as they may benefit from risk reduction and screening. However, clinical guidelines discourage predictive genetic testing in childhood—including direct‐to‐consumer (DTC) testing.
Marcelo M. Sleiman Jr., Talia Zamir, Beth N. Peshkin, Jada G. Hamilton, Mingqian Liu, Mary Rose Yockel, Benjamin Wilfond, Lainie Friedman Ross, Jamie Brower, Hannah Ovadia, Rosalba Sacca, Beth Tarini, Susan M. Domchek, Claudine Isaacs, Kenneth P. Tercyak   +14 more
wiley   +1 more source

Editorial: Changing perspectives in speech and language neuropsychology, 1863-2023. [PDF]

Front Psychol
Eling P, Longman S, Stahnisch FW, Tremblay P.   +3 more
europepmc   +1 more source

Quality of Life of Families Who Have Children With Cornelia de Lange Syndrome in Brazil: Opportunities for Improvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This exploratory cross‐sectional study aimed to estimate the family quality of life (FQoL) among 70 Brazilian families with children with Cornelia de Lange syndrome (CdLS). Data were collected using sociodemographic and clinical data forms, the Barthel index for activities of daily living, and the Beach Center FQoL Scale, a 5‐point Likert tool
Aline Apis, Beatriz Carvalho Nunes, Thainá Vilella, Rafaela Catelan Martins Pereira, Rui Fernando Pilotto, Lucimar Retto da Silva de Avó, Maria Isabel Melaragno, Carla Maria Ramos Germano, Débora Gusmão Melo   +8 more
wiley   +1 more source

Age-related differences in the relationship between confidence and false memory in a mnemonic discrimination task. [PDF]

Sci Rep
Szőllősi Á, Bencze D, Zsebi S, Juhász E, Racsmány M.   +4 more
europepmc   +1 more source

Addressing the Diagnostic Odyssey for Adults With Neurodevelopmental Disabilities: Case Study of an Individual With Mandibulofacial Dysostosis With Microcephaly

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Whole exome sequencing (WES) has been widely used in the pediatric setting to increase diagnostic yield, provide treatment options, and to estimate reoccurrence risks. However, there is limited knowledge regarding the utility of this technology in adults with neurodevelopmental disabilities.
Ruhi Shah, Neora Shifrin, Mary Ellen Keogh, Elaine Marchi, Maureen Gavin, Karen Amble, Gholson J. Lyon   +6 more
wiley   +1 more source