Results 231 to 240 of about 102,637 (288)

Design and application of an AI- and AR-enhanced serious game for interactive learning in the Blue Calico Museum in China. [PDF]

Sci Rep
Yan Y, Zhao J, Jung E.
europepmc   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Women's preference for HPV self-sampling devices: a programme-embedded, large-scale paired comparative study within the cervical cancer screening programme in the Capital Region of Denmark. [PDF]

BMJ Open
Andreasen EK, Arum A, Pedersen H, Dahl Nielsen T, Frandsen P, Pedersen BT, Serizawa R, Bonde J.   +7 more
europepmc   +1 more source

Electrocardiographic and Skin Manifestations of Turner Syndrome: Association With Cardiovascular Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital heart disease (CHD) and dermatologic conditions such as lymphedema and acquired melanocytic nevi (AMN) are common in Turner Syndrome (TS). We hypothesized that abnormalities of cranial neural crest cell derivatives drive the skin and heart manifestations of TS. We conducted joint cardiac and skin examinations of volunteers at a 2023
Sarah Elsaim, Brett Vernier, Van Thi Thanh Truong, Riya T. Patel, Matthew Brown, Martin Chacon Portillo, Megan Rogge, David Rodriguez‐Buritica, Siddharth K. Prakash   +8 more
wiley   +1 more source

Evaluating a digital health ecosystem for asthma and air quality: an early feasibility study based on clinicians and patient-reported measures. [PDF]

Front Digit Health
Escalona-López SV, Haddi Z, Lores Obradors L, Vinyets Rejón J, Gresle AS, De Rosis S, Hernando Salvador R.   +6 more
europepmc   +1 more source

Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith–Magenis Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS) results from either a recurrent 17p11.2 deletion or pathogenic variants in the retinoic acid induced 1 gene (RAI1). While neurodevelopmental impairment and behavioral dysregulation are well recognized, systematic genotype‐stratified analyses across psychiatric domains remain limited.
Albin Blanc, Christophe Nemos, Céline Bonnet, Mathilde Renaud, Sandra Chapuis, Pauline Boiroux, Marie‐Noëlle Babinet, Caroline Demily   +7 more
wiley   +1 more source

Development of a digitalised complex intervention to promote activity of older people in rural areas: study protocol of a feasibility study. [PDF]

Pilot Feasibility Stud
Beutner K, Lamprecht J, Roggendorf S, Aßmann P, Hübner G, Steckelberg A, Schmidt H.   +6 more
europepmc   +1 more source

Sleep Disturbances in Adults With Tuberous Sclerosis Complex: Influences of Treatment and Clinical Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Tuberous sclerosis complex (TSC) is a genetic condition with multisystem neurocutaneous signs, including hamartomas, epilepsy, and neuropsychological difficulties. Although sleep disorders are increasingly recognized in TSC, they remain poorly described in adults.
Kirstin A. Risgaard, Laura Farach, Hope Northrup, Sarah L. Wilson, Deborah Pearson, Syed Hashmi, Kate Richardson   +6 more
wiley   +1 more source

User preference-based human-in-the-loop tuning of exoskeleton assistance during walking. [PDF]

NPJ Biomed Innov
Schäfer N, Zhao G, Li B, Kupnik M, Seyfarth A, Beckerle P, Grimmer M.   +6 more
europepmc   +1 more source