Results 171 to 180 of about 46,711 (261)

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

Production of real signs but not pseudosigns affected by age of acquisition in American Sign Language. [PDF]

Mem Cognit
Lynne Nielson S, Mayberry RI.
europepmc   +1 more source

Expanding the Phenotypic Spectrum of TXNDC15‐Related Ciliopathies to Include Joubert Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic loss‐of‐function variants in TXNDC15 are a known cause of the perinatally lethal ciliopathy Meckel syndrome (MKS). TXNDC15 encodes an endoplasmic reticulum (ER)‐resident thioredoxin‐domain protein required for ciliary transition zone integrity.
Zachary T. Sentell, Robert Geraghty, Juliana E. Arcila‐Galvis, Praveen Dhondurao‐Sudhindar, Sergio Foullerat Cañada, Fulvio D'Abrusco, Bosanka Jocic‐Jakubi, Miguel Barroso‐Gil, Valentina Serpieri, Thomas M. Kitzler, Kate E. Chandler, Eleanor G. Seaby, Gabrielle Wheway, Jennifer C. Dempsey, Dan Doherty, Enza M. Valente, John A. Sayer   +16 more
wiley   +1 more source

American Sign Language basic clause comprehension strategies used by late first-language learners: Plausibility, animacy, and linguistic structure. [PDF]

Lang Learn Dev
Cheng Q, Mayberry RI.
europepmc   +1 more source

Extending the ATP9A‐Related Phenotypic Spectrum: Indication of Schizophrenia Susceptibility

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT ATP9A, which belongs to the P4‐ATPase family of proteins, is involved in the efficient transport of vesicles from the Golgi apparatus to the plasma membrane, as well as the release of extracellular vesicles from human cells. In 2021, a loss‐of‐function variant of this gene was identified as being associated with a recessive neurodevelopmental ...
Camille Verebi, Céline Louveau, Bertrand Diebold, Natacha Gaitch, Arnaud Hubas, Martine Gautier Vallee, Jérôme Champ, Anais L'Haridon, Sophie Georgin Lavialle, Boris Chaumette, Thierry Bienvenu   +10 more
wiley   +1 more source

Using American Sign Language-Fluent Community Health Navigators to Advance Cancer Screening Adherence through Videoconferencing With Deaf, Deafblind, and Hard of Hearing Adults: Protocol for a Randomized Controlled Trial. [PDF]

JMIR Res Protoc
Kushalnagar P, Rao SR, Bergeron E, Valdez R, Wang R, Kushalnagar RS, Sadler GR.   +6 more
europepmc   +1 more source

Effects of age on American Sign Language sentence repetition. [PDF]

Psychol Aging, 2020
Corina DP, Farnady L, LaMarr T, Pedersen S, Lawyer L, Winsler K, Hickok G, Bellugi U.   +7 more
europepmc   +1 more source

The Politics of Framing the Student Problem: Inquiries Into Australian Civics Education, 2006–2024

Australian Journal of Social Issues, EarlyView.
ABSTRACT Recurring debates about civics, the kinds of history that should, and should not, be taught in school, and ‘standards debates’ about the ‘basics’ typically follow on the heels of recurring moral panics about the ‘declining’ state of ‘our’ education system.
Patrick O'Keeffe, Judith Bessant, Madeline Drake   +2 more
wiley   +1 more source

Expert Consensus on the Role of Speech-Language Pathologists in Working With Deaf Children Who Use American Sign Language in the United States: A Classical e-Delphi Study. [PDF]

Am J Speech Lang Pathol
Secora K, Lee B, Smith D, Coppola M.
europepmc   +1 more source

Shadow Infrastructures of Labour: A Case Study of Generative AI Use in Victorian Child Protection Practice

Australian Journal of Social Issues, EarlyView.
ABSTRACT Generative Artificial Intelligence (GenAI) tools such as ChatGPT are rapidly entering workplaces, yet their use in frontline human services remains largely undocumented and weakly regulated. Drawing on an investigation into a child protection worker's informal use of ChatGPT, this article provides insight into how GenAI is already shaping ...
Joel Robert McGregor, Linus Tan, Caleb Lloyd, Abigail Sheed   +3 more
wiley   +1 more source