Results 201 to 210 of about 103,649 (299)

Diagnostic Yield of Sequencing for Prenatal Diagnosis of Fetal Structural Anomalies: An Updated Systematic Review

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT The clinical utility of sequencing in prenatal diagnosis is known, but diagnostic yield varies widely depending on clinical indication. Here we update an earlier systematic review reporting the diagnostic yield of prenatal sequencing in structurally abnormal fetuses, with particular focus on factors affecting diagnostic yield.
Karen Mei Xian Lim   +5 more
wiley   +1 more source

Large‐language‐models for pediatric diagnosis: Performance evaluation using real‐world clinical notes from common and rare cases

open access: yesPediatric Investigation, EarlyView.
• Advanced large language models exhibited superior diagnostic accuracy compared to clinicians, particularly for rare diseases, with Claude‐3.5 Sonnet and o1‐preview demonstrating the highest consistency between query iterations. ABSTRACT Importance Rigorous evaluation of large language models (LLMs) in pediatric diagnosis using authentic clinical ...
Cristian Launes   +12 more
wiley   +1 more source

Capacity building needed to reap the benefits of access to biodiversity collections

open access: yesPLANTS, PEOPLE, PLANET, EarlyView.
Global conservation efforts increasingly depend on digitised natural history collections, yet the benefits of this digital data are not equally shared. We analysed biodiversity specimens and citation data from Montserrat and the Cayman Islands to assess who collected these specimens, how they are used, and by whom.
Quentin Groom   +16 more
wiley   +1 more source

Presentations Due to Priapism in an Urban Hospital in Switzerland. [PDF]

open access: yesEmerg Med Int
Uhl JD   +5 more
europepmc   +1 more source

Phenotypic Clues in Infantile‐Onset Parkinsonism‐Dystonia‐2: A Treatable Neurotransmitter Disorder

open access: yes
Movement Disorders Clinical Practice, EarlyView.
Sangeetha Yoganathan   +10 more
wiley   +1 more source

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