Results 241 to 250 of about 270,006 (285)

Artificial Intelligence as a Catalyst for Value-Based Health Insurance in the United States: Narrative Review and Policy Perspective. [PDF]

JMIR AI
Kodan A.
europepmc   +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

Service Outcomes for Germline Test Delivery for Patients With Metastatic Prostate Cancer.

JAMA Netw Open
Scheuner MT, Hoggatt KJ, Sales P, Zhang N, Lerner B, Danowski ME, Osha M, Sokoloff A, Mrig EH, Kohlmann W, McWhirter G, Kelley MJ.   +11 more
europepmc   +1 more source

Performance and challenges of power sector reform in China since 2015. [PDF]

iScience
Feng Y, Lin J, Song F, Ho MS.
europepmc   +1 more source

Novel MYL1 Intron Variant With Expanded Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal ...
Maria Barington, Marie Balslev‐Harder, Thomas Krag, Thomas van Overeem Hansen, Camilla Bernt Wulff, Ulrik Lausten‐Thomsen, Tina Duelund Hjortshøj, Elsebet Østergaard   +7 more
wiley   +1 more source

Blockchain Technology for Big-data Sharing in Material Genome Engineering. [PDF]

Sci Data
Wang R, Ye F, Tang S, Zhang H, He J, Zhang X, Xu C.   +6 more
europepmc   +1 more source

Expanding the Evaluation of Skeletal Anomalies in Patients With KBG Syndrome: Recommendations for Clinical Practice

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT KBG syndrome is a rare autosomal dominant neurodevelopmental disorder caused by ANKRD11 haploinsufficiency and is characterized by short stature, distinctive facial features, intellectual disability or developmental delay, congenital anomalies and skeletal anomalies.
Marit van der Leij, Emilie de Groot, Eleonora Orlandini, Willemijn M. Klein, Charlotte W. Ockeloen, Joyce M. Geelen   +5 more
wiley   +1 more source

SmokeBERT and Beyond: Bridging Clinical Narratives and Structured Smoking Data to Improve Lung Cancer Screening. [PDF]

JCO Clin Cancer Inform
Tan H, Osterman TJ.
europepmc   +1 more source

Amateurism in flux: NIL beyond borders and the strategic crossroads of European basketball. [PDF]

Front Sports Act Living
Bourdas DI, Bakirtzoglou P, Theos A, Travlos AK.   +3 more
europepmc   +1 more source

Medico-social predictors of low work ability: a cross-sectional study of 2104 workers in southern France. [PDF]

BMJ Open
Bellagamba G, Daumail N, Landi A, Lehucher-Michel MP.   +3 more
europepmc   +1 more source