Results 191 to 200 of about 34,492 (222)

Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston, Sandesh C. S. Nagamani, Bradley S. Miller, Katherine A. Rauen, Richard D. Boyce, Salma Musaad, Pilar L. Magoulas   +6 more
wiley   +1 more source

Clinical Clu-Dr: A Scalable Gamified Tool for Clinical Reasoning Practice. [PDF]

Clin Teach
Horniblow RD, Lefièvre L, Hammersley L, Morgan J, Tselepis L, Ghinai R, Wheeler J, Jackson D.   +7 more
europepmc   +1 more source

Refining Domain‐Based Prognostication in DNM1 Encephalopathy: A Mild Phenotype Associated With a GTPase Domain Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DNM1 encephalopathy is a rare autosomal dominant genetic condition characterized by a range of neurological and developmental manifestations. The typical phenotype is severe, including profound intellectual disability, treatment‐resistant epilepsy, ataxia, and structural brain abnormalities. However, milder presentations have increasingly been
Caroline Crain, Hope Northrup, Laura S. Farach, Sureni V. Mullegama, Kathleen Shields, Gretchen Von Allmen, Kate Richardson   +6 more
wiley   +1 more source

GenAI and clinical decision making in general practice. [PDF]

Br J Gen Pract
Allen LN.
europepmc   +1 more source

Evaluating ChatGPT's Adherence to Medical Ethics: A Prerequisite for Artificial Intelligence in Medicine. [PDF]

Health Care Sci
Zhang Y, Liu Y, Lv T, Wang J, Liu H, Li X.   +5 more
europepmc   +1 more source

Using Provenance Dispersion to Triage Uncertain Neurosymbolic OCT Diagnoses. [PDF]

Transl Vis Sci Technol
Bair H.
europepmc   +1 more source

Ethical challenges of capacity assessment in neurodevelopmental and intellectual disabilities. [PDF]

BMC Med Ethics
Santoro JD, Kazerooni L, Lucas MC, Kingsley J, Rafii MS.   +4 more
europepmc   +1 more source

Hierarchical tree-structured belief rule base for fault diagnosis of complex electromechanical systems. [PDF]

Sci Rep
Chen M, Su T, Cheng C, Cao Y, Wen B.
europepmc   +1 more source

Large Language Model Performance and Clinical Reasoning Tasks.

JAMA Netw Open
Rao AS, Esmail KP, Lee RS, Jiang S, Arraiza Carlo B, Gill J, Khanna P, Kalmowitz E, Montagnese B, Heydari K, Jiao Q, Bott E, Nguyen D, Wang G, Hood M, Landman AB, Succi MD.   +16 more
europepmc   +1 more source