Results 251 to 260 of about 639,512 (301)

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Online e-Cigarette Retailers' Use of Price Incentives and Product Features to Attract Adolescent and Young Adult Purchases: Cross-Sectional Choice-Based Study.

J Med Internet Res
Gaiha SM, Stamoulis C.
europepmc   +1 more source

Modeling tissue-scale ciliary transport and mixing in three-dimensional Newtonian flow. [PDF]

PLoS Comput Biol
Xu L, Senaei P, Jiang Y.
europepmc   +1 more source

Low‐Level Mosaicism in Tuberous Sclerosis Complex (TSC): Diagnostic and Clinical Implications From Two Novel Cases and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mosaicism is relatively common in Tuberous Sclerosis Complex (TSC) but can be difficult to detect using routine diagnostic tests, particularly when the variant allele frequency (VAF) is low. We describe two cases of mosaic TSC diagnosed using an ultra‐deep sequencing approach in multiple tissues and review the literature about this topic in ...
Irene Ambrosetti, Carlotta Pia Cristalli, Francesca Montanari, Luca Caramanna, Francesco Modestino, Irene Capelli, Valeria Aiello, Sarah Lerario, Cecilia Evangelisti, Iria Neri, Eugenio Brunocilla, Cesare Rossi, Marco Seri, Daniela Turchetti, Giovanni Innella   +14 more
wiley   +1 more source

The Quality of Evidence of and Engagement With Video Medical Claims.

JAMA Netw Open
Kang E, Lee H, Choi J, Ju H.
europepmc   +1 more source

Assessing the usefulness of educational videos on endodontic irrigation for dental students: a pilot study. [PDF]

BMC Med Educ
Kock JW, Yeap SKS, Chhabra N, Chien PY, Bhatia S.   +4 more
europepmc   +1 more source

Psychiatric Comorbidities and Treatment Modalities in Children With Osteogenesis Imperfecta: A Systematic Review of Mental Health

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To evaluate the prevalence of psychiatric signs and symptoms and describe psychotherapeutic and psychopharmacological interventions among children with osteogenesis imperfecta (OI). PRISMA guidelines were followed, and the study was registered in PROSPERO (CRD42024588284). Studies (n = 1419) were identified across five databases.
Julia M. Morales, Camille F. Villar, Beatriz Varman, Gianna M. Colombo, Danqi Li, Sarah J. Sadek, Marie‐Eve Robinson, Chaya N. Murali, Kara Ayers, Jocelyn Gomez, Brendan Lee, V. Reid Sutton, Eric A. Storch, Andrew D. Wiese   +13 more
wiley   +1 more source

Training Mice to Perform Attentional Set-Shifting Under Head Restraint. [PDF]

Bio Protoc
Kalajzic K, Stout JJ, Mitchell AC, Spellman T.   +3 more
europepmc   +1 more source

The Cost of the National Disability Insurance Scheme: Australia's Print‐Media Discourse

Australian Journal of Social Issues, EarlyView.
ABSTRACT This paper examines the way that Australian newspapers have framed the cost of the National Disability Insurance Scheme (NDIS). Introduced in 2013, the NDIS represented a major change in Australia's disability support policy, moving for the first time to a nationwide universal insurance model.
Meera Chinnappa, Jennifer Smith‐Merry, Kuo‐yi Jade Chang   +2 more
wiley   +1 more source

JINet: easy and secure private data analysis for everyone. [PDF]

BMC Bioinformatics
Lalli G, Collier J, Moreau Y, Raimondi D.   +3 more
europepmc   +1 more source