Results 191 to 200 of about 672,157 (285)

The Novel ACTC1 p.Gly50Ser Variant Is Associated With Arrhythmia and Secondary Features of HCM Without Hypertrophy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The key diagnostic criterion for hypertrophic cardiomyopathy is the presence of otherwise unexplained hypertrophy. Current definitions of HCM rely on specific thresholds to establish a diagnosis, while guideline directed risk stratification algorithms take its magnitude into consideration.
Thomas D. Gossios, Dimitrios Ntelios, Thomas Zegkos, Despoina Parcharidou, Pavlos Rouskas, Sotirios Katranas, Ioannis Papoulidis, Vlasis Ninios, Antonios Ziakas, Georgios K. Efthimiadis   +9 more
wiley   +1 more source

A study of consumer-generated advertising-An experimental analysis based on purchase experiences, information channels, and privacy costs. [PDF]

PLoS One
Cai C, Liu Y.
europepmc   +1 more source

Introducing AI & Innovation

AI &Innovation, EarlyView.
Mirko Farina, Xiao Yu, Rongrong Ji, Chen Jin, Vincent Blok, Paolo Ciancarini, Ngcaweni Busani, Witold Pedrycz   +7 more
wiley   +1 more source

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Teledermatology for Older Adults With a Focus on Nursing Home Residents: A Scoping Review of Clinical and System-Level Benefits. [PDF]

Cureus
Armstrong JL, Bennis S, Smock JN, Kesselman MM.   +3 more
europepmc   +1 more source

Homelessness Service Usage Patterns of 30,000 Homeless and At‐Risk Households: The Melbourne Access Point Study

Australian Journal of Social Issues, EarlyView.
ABSTRACT Over the last three decades, overseas researchers have utilised administrative data to identify distinct patterns in shelter use. In Australia, the use of administrative data to understand service utilisation patterns among people ‘at risk’ of homelessness and experiencing homelessness is limited.
Godwin Kavaarpuo, Kathryn Daley, Guy Johnson   +2 more
wiley   +1 more source

Do world-wide policy initiatives for regulating health care related artificial intelligence safeguard the declaration of Helsinki? [PDF]

EClinicalMedicine
Armoundas AA, Loscalzo J.
europepmc   +1 more source