Results 241 to 250 of about 1,259,818 (372)

Trisomy 5p: Long Recognized, Rarely Published‐ Three New Cases and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Complete trisomy 5p is a rare chromosomal disorder caused by a duplication of the short arm of chromosome 5. Current data suggest that complete trisomy 5p presents as a distinct clinical syndrome including but not limited to seizures, developmental delays, facial dysmorphisms, failure to thrive, and recurrent respiratory infections.
Gabriela J. Kim, Kristen N. Lee, Amanda B. Pritchard   +2 more
wiley   +1 more source

American Sign Language Recognition and Translation Using Perception Neuron Wearable Inertial Motion Capture System. [PDF]

Sensors (Basel)
Gu Y, Oku H, Todoh M.
europepmc   +1 more source

Cortical Encoding of Manual Articulatory and Linguistic Features in American Sign Language. [PDF]

Curr Biol, 2020
Leonard MK, Lucas B, Blau S, Corina DP, Chang EF.   +4 more
europepmc   +1 more source

The organization of the American Sign Language lexicon: Comparing one- and two-parameter ERP phonological priming effects across tasks. [PDF]

Brain Lang, 2021
Meade G, Lee B, Massa N, Holcomb PJ, Midgley KJ, Emmorey K.   +5 more
europepmc   +1 more source

A Unified Approach to Syntactic Patterns of American Sign Language with the Verb Raising Analysis

, 2008
Kazumi Matsuoka
openalex   +2 more sources

Novel Intragenic Duplication of GATAD2B in a Patient With GAND

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The nucleosome remodeling and deacetylation (NuRD) complex is a major chromatin regulator and plays a critical role in regulating gene transcription, genome integrity, and cell cycle progression. Heterozygous variants in GATAD2B, a core NuRD component, have been reported to cause GATAD2B‐Associated Neurodevelopmental Disorder (GAND), an ...
Mari Mori, Steven Estes, Swetha Ramadesikan, Betsy Schmalz, Shayne Plourde, Maria E. Hernandez Gonzalez, Anthony R. Miller, Bimal P. Chaudhari, Richard K. Wilson, Daniel C. Koboldt   +9 more
wiley   +1 more source

Community Health Navigators for Cancer Screening Among Deaf, Deafblind, and Hard of Hearing Adults Who Use American Sign Language. [PDF]

J Cancer Educ
Bergeron E, Valdez R, Moreland CJ, Wang R, Knight T, Kushalnagar P.   +5 more
europepmc   +1 more source

Neurodevelopmental Phenotyping and Genotyping in the Pediatric National Institute of Health Undiagnosed Disease Program

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT The National Institute of Health (NIH) Undiagnosed Diseases Program (UDP) is an NIH project with the goal of providing both a comprehensive diagnosis and a better understanding of the many mechanisms of disease for patients with rare and undiagnosed conditions.
Dee Adedipe, Audrey Thurm, Lisa Joseph, Maria T. Acosta, Ellen F. Macnamara, Colby Chlebowski, Riley Kessler, Precilla D'Souza, Lynne Wolfe, Jean M. Johnson, Tyra Estwick, John Yang, Paul R. Lee, Jennifer Murphy, Camilo Toro, Thomas Markello, Dennis Carter, David R. Adams, William A. Gahl, Cynthia J. Tifft   +19 more
wiley   +1 more source

Non‐Invasive Prenatal Testing by Cell‐Free DNA (cfNIPT) for Detecting Turner Syndrome With Mosaicism and Structural Variants—Prenatal Findings and Postnatal Outcomes

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner Syndrome (TS) is a sex chromosomal disorder associated with karyotype heterogeneity. Although TS can be associated with severe prenatal findings, most often linked to the 45, X karyotype, the majority of TS fetuses have no overt phenotype, resulting in delayed diagnosis and management.
Ivonne Bedei, Johanna Bruder, Ida C. B. Lund, Simon H. Thomsen, Ida Vogel, Andrea T. Maciel‐Guerra, Francisco Alvarez‐Nava, Melissa L. Crenshaw, Roland Axt‐Fliedner, Claus H. Gravholt, Anne Skakkebæk   +10 more
wiley   +1 more source

The Politics and Practice of Voice: Representing American Sign Language on the Screen in Two Recent Television Crime Dramas

, 2010
Jennifer Rayman
openalex   +1 more source