Last Updated: 09/26/2026
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Found 186 publications
Abstracts of the 36th World Congress on Ultrasound in Obstetrics and Gynecology, 4-7 September 2026, London, UK.
Journal: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
Published: July 06, 2026
Abstracts of the 36th World Congress on Ultrasound in Obstetrics and Gynecology, 4-7 September 2026, London, UK.
Journal: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
Published: July 06, 2026
Timely Diagnosis of Cobalamin C Disease via Rapid Genome Sequencing in a Neonate With Severe Prenatally Detected Biventricular Dysfunction.
Journal: Case reports in critical care
Published: June 22, 2026
Diagnostic Accuracy of Large Language Models for Rare Diseases: A Systematic Review and Meta-Analysis.
Journal: medRxiv : the preprint server for health sciences
Published: April 03, 2026
European Association of Urology Guidelines on Neuro-urology: Summary of the 2026 Update.
Journal: European urology
Published: March 05, 2026
Diagnostic Odyssey of Atypical Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants.
Journal: American journal of medical genetics. Part A
Published: February 23, 2026
Response of an Infant With Presumed Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation.
Journal: American journal of medical genetics. Part A
Published: January 19, 2026
Sex-Based Disparities in Fabry Disease Cause Challenges in Newborn Screening.
Journal: Public health genomics
Published: January 14, 2026
A statistical framework for evaluating the repeatability and reproducibility of large language models.
Journal: medRxiv : the preprint server for health sciences
Published: November 24, 2025
Decoding Genetic Disease Through the Skin: Lessons From the UDN.
Journal: International journal of dermatology
Published: October 26, 2025
Large Language Models for Rare Disease Diagnosis at the Undiagnosed Diseases Network.
Journal: JAMA network open
Published: August 22, 2025
Sex-Specific Diagnostic Inequality in Fabry Disease: Lessons Learned from Analysis of Newborn Screening and Cascade Testing in Tennessee from 2017 to 2024.
Journal: Public health genomics
Published: August 14, 2025
Last Updated: 09/26/2026