Results 211 to 220 of about 1,149,368 (349)

A Case of Prader‐Willi Syndrome With a Deletion Including MAGEL2, NDN, and MKRN3, but Excluding SNRPN and SNORD116

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Prader‐Willi syndrome (PWS) is a neurodevelopmental disorder typically caused by large deletions or imprinting defects on chromosome 15q11.2, encompassing multiple genes. While the contribution of individual genes to the PWS phenotype remains unclear, previous studies suggested that isolated deletions of MAGEL2, NDN, and MKRN3, excluding the ...
Jannis Buecking, Yu An, Weimin Bi, Katrin Hinderhofer, Susanne Theiß, Anne Slavotinek, Christian P. Schaaf   +6 more
wiley   +1 more source

Community-Engaged Needs Assessment of Deaf American Sign Language Users in Florida, 2018. [PDF]

Public Health Rep, 2022
James TG, McKee MM, Sullivan MK, Ashton G, Hardy SJ, Santiago Y, Phillips DG, Cheong J.   +7 more
europepmc   +1 more source

Quantifying the effect of disruptions to temporal coherence on the intelligibility of compressed American Sign Language video [PDF]

, 2009
Frank M. Ciaramello, S.S. Hemami
openalex   +1 more source

Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B‐Related Disorders: Case Series and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione, Antonio Pizzuti, Gioia Mastromoro, Eleonora Cresta, Paola Favata, Maria Cristina Digilio, Rossella Capolino, Maria Lisa Dentici, Lorenzo Sinibaldi, Antonio Novelli, Marco Tartaglia, Gianluca Terrin, Viviana Cardilli   +12 more
wiley   +1 more source

Do Influential Articles on the Genetics of Autism Show Evidence of Engagement With the Autistic Community?

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Investigations into the etiology and genetic basis of autism continue to drive much autism research, yet reports are emerging of this research not aligning with priorities of autistic people. Engagement of autistic people in the research process is a key way to take their perspectives on board.
Heidi Kristiina Kaljusto, Emma Wilson, Sue Fletcher‐Watson   +2 more
wiley   +1 more source

American Sign Language Words Recognition of Skeletal Videos Using Processed Video Driven Multi-Stacked Deep LSTM. [PDF]

Sensors (Basel), 2022
Abdullahi SB, Chamnongthai K.
europepmc   +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 neural correlates for spatial language: Perspective-dependent and -independent relationships in American Sign Language and spoken English. [PDF]

Brain Lang, 2021
Emmorey K, Brozdowski C, McCullough S.
europepmc   +1 more source

Understanding well‐being and safety for First Nations children and young people in the Riverland—Engaging with metic knowledge via a capability approach

Australian Journal of Social Issues, EarlyView.
Abstract Aboriginal culture is both a strength and a protective factor for Aboriginal children; yet, we continue to see disparities in education, health and well‐being outcomes. To improve outcomes for Aboriginal children and families, local cultural ways of knowing, being and doing need to be incorporated into policy and practice.
Michelle Jones, Luke Cantley, Donna Quinn, Daniel Quinn, Craig Rigney, Jenny van der Arend   +5 more
wiley   +1 more source

Adapting the Assessing British Sign Language Development: Receptive Skills Test Into American Sign Language [PDF]

, 2011
Charlotte Enns, R. Herman
openalex   +1 more source