Results 101 to 110 of about 59,863 (254)

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 more
wiley   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Patients’ experiences with receiving sick leave certificates via remote consultations in Norway during the COVID-19 pandemic: a nationwide online survey

BMJ Open
Objectives To explore patients’ experiences with receiving sick leave certificates via remote consultations during the COVID-19 pandemic and investigate whether there were differences among the types of remote consultation (telephone, video or text ...
Paolo Zanaboni, Trine S Bergmo, Eli Kristiansen   +2 more
doaj   +1 more source

Compressed video for clinical consultation

Academic Medicine, 1993
D K, Clawson, R, Cox, W S, Mahler
openaire   +3 more sources

National Disability Insurance Scheme and Quality of Life Among Carers of Children With Autism Spectrum Disorder in Australia: A Thematic Analysis

Australian Journal of Social Issues, EarlyView.
ABSTRACT Diagnoses of autism spectrum disorder in Australia have increased considerably in recent years. The current study investigated how the National Disability Insurance Scheme (NDIS) impacts quality of life (QoL) among carers of children with autism spectrum disorder.
Jesse Gerhard, Sharon L. Grant
wiley   +1 more source

How Informal Carers Support Video Consulting in Physiotherapy, Heart Failure, and Cancer: Qualitative Study Using Linguistic Ethnography

Journal of Medical Internet Research
BackgroundInformal carers play an important role in the everyday care of patients and the delivery of health care services. They aid patients in transportation to and from appointments, and they provide assistance during the ...
Lucas Martinus Seuren, Sara Shaw
doaj   +1 more source

Building Community Amidst the Institutional Whiteness of Graduate Study: Black Joy and Maroon Moves in an Academic Marronage

Australian Journal of Social Issues, EarlyView.
ABSTRACT This article reflects on the construction of a supportive community of Black Afro‐diasporic graduate students and their supervisors researching issues relating to race in the field of education in Australia. It draws on the concept of marronage—a term rooted in the fugitive act of becoming a maroon, where enslaved people enacted an escape in ...
Hellen Magoi, Casianus Gemoh, Denise Chapman, Edmund Hypolite, Simon Angok, Melanie Baak, Joel Windle   +6 more
wiley   +1 more source

Telemedicine for cognitive impairment: a telephone survey of patients' experiences with neurological video consultation. [PDF]

Neurol Sci, 2023
Ruggiero F, Zirone E, Molisso MT, Carandini T, Fumagalli G, Pietroboni A, Ferrucci R, Aiello EN, Poletti B, Silani V, Comi G, Scarpini E, Barbieri S, Arighi A, Mameli F.   +14 more
europepmc   +1 more source

Supported Decision‐Making Rights in Behaviour Support Policies

Australian Journal of Social Issues, EarlyView.
ABSTRACT Disability policy emphasises that people with disability have the right to exercise their will and preferences in their lives, and decision‐making support must be provided to realise this right if they request. One context in which people's will and preferences are often restricted is behaviour support.
Sally Robinson, Karen R. Fisher, Julian Laurens, Alinka Fisher, Sabrina Forte, Katrina Reschke, Rosemary Kayess   +6 more
wiley   +1 more source

Implementing an Indigenous Research Methodology to Develop a Culturally Appropriate Survey and Yarning Protocol: Challenges With Retention of the Aboriginal Health, Ageing and Disability Workforce

Australian Journal of Social Issues, EarlyView.
ABSTRACT Aboriginal staff play a vital part in improving culturally safe and effective services and supports for Aboriginal people. Research on the Aboriginal workforce helps advance a culturally safe environment for workers and Aboriginal people accessing health and community services. This study aims to identify the barriers and enablers to workforce
F. Talbot, J. Gilroy, J. Gwynn, K. Bulkeley, C. Alcorso, K. Gwynne, Rob Heard, Sarah Peter, A. Haines, M. Lincoln, B. Rambaldini   +10 more
wiley   +1 more source