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Medrxiv : the Preprint Server for Health Sciences
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November 24, 2025
Drivers of Diagnostic Delay in Mitochondrial Disease: Missed Recognition of Canonical Features
Rory J Tinker, Neil Jacob, Mohammad Ghouse Syed, et al.
American Journal of Medical Genetics. Part A
|
August 25, 2023
A medical odyssey of a 72-year-old man with Charcot-Marie-Tooth disease type 2 newly diagnosed with biallelic variants in SORD gene causing sorbitol dehydrogenase deficiency
Yutaka Furuta, Erica T Nelson, Serena M Neumann, et al.
American Journal of Human Genetics
|
April 17, 2025
Characterizing trends in clinical genetic testing: A single-center analysis of EHR data from 1.8 million patients over two decades
Lisa Bastarache, Rory J Tinker, Bryce A Schuler, et al.
Biomolecules
|
March 28, 2026
Expanded Clinical Spectrum of Autosomal-Dominant STT3A-CDG
Hamdan Al-Shahrani, Evelin Szabó, Caroline Staccone, et al.
JIMD Reports
|
January 26, 2026
Drivers of Diagnostic Delay in Mitochondrial Disease: Missed Recognition of Canonical Features
Rory J Tinker, Neil Jacob, Mohammad Ghouse Syed, et al.
American Journal of Ophthalmology
|
August 8, 2025
The Undiagnosed Diseases Network (UDN) Solves Ocular Syndromic Diagnostic Dilemmas
Rory J Tinker, Logan M Smith, Lisa A Bastarache, et al.
Studies in Health Technology and Informatics
|
August 8, 2025
Accuracy of Large Language Models in Generating Rare Disease Differential Diagnosis Using Key Clinical Features
Cathy Shyr, Rory J Tinker, Paul A Harris, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 9, 2026
Evaluating Pregnancy and Neonatal Outcomes in Mothers with Genetic Disease using electronic healthcare records
Rory J Tinker, Lucas D Richter, Yutaka Furuta, et al.
NPJ Drug Discovery
|
October 6, 2025
Genetic evidence informs the direction of therapeutic modulation in drug development
Robert Chen, Áine Duffy, Joshua K Park, et al.
Maternal and Child Health Journal
|
September 16, 2024
Integrating a Parenting Assessment into Practice: Pediatric Providers' Time and Perspectives
Amber J Cooke, Tahra I Attar, Victoria L Carr, et al.
Page
of 13
Search research articles
Search
Showing results (91-100 of 124) with videos related to
Sort By:
Page
of 13
Medrxiv : the Preprint Server for Health Sciences
|
November 24, 2025
Drivers of Diagnostic Delay in Mitochondrial Disease: Missed Recognition of Canonical Features
Rory J Tinker, Neil Jacob, Mohammad Ghouse Syed, et al.
American Journal of Medical Genetics. Part A
|
August 25, 2023
A medical odyssey of a 72-year-old man with Charcot-Marie-Tooth disease type 2 newly diagnosed with biallelic variants in SORD gene causing sorbitol dehydrogenase deficiency
Yutaka Furuta, Erica T Nelson, Serena M Neumann, et al.
American Journal of Human Genetics
|
April 17, 2025
Characterizing trends in clinical genetic testing: A single-center analysis of EHR data from 1.8 million patients over two decades
Lisa Bastarache, Rory J Tinker, Bryce A Schuler, et al.
Biomolecules
|
March 28, 2026
Expanded Clinical Spectrum of Autosomal-Dominant STT3A-CDG
Hamdan Al-Shahrani, Evelin Szabó, Caroline Staccone, et al.
JIMD Reports
|
January 26, 2026
Drivers of Diagnostic Delay in Mitochondrial Disease: Missed Recognition of Canonical Features
Rory J Tinker, Neil Jacob, Mohammad Ghouse Syed, et al.
American Journal of Ophthalmology
|
August 8, 2025
The Undiagnosed Diseases Network (UDN) Solves Ocular Syndromic Diagnostic Dilemmas
Rory J Tinker, Logan M Smith, Lisa A Bastarache, et al.
Studies in Health Technology and Informatics
|
August 8, 2025
Accuracy of Large Language Models in Generating Rare Disease Differential Diagnosis Using Key Clinical Features
Cathy Shyr, Rory J Tinker, Paul A Harris, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 9, 2026
Evaluating Pregnancy and Neonatal Outcomes in Mothers with Genetic Disease using electronic healthcare records
Rory J Tinker, Lucas D Richter, Yutaka Furuta, et al.
NPJ Drug Discovery
|
October 6, 2025
Genetic evidence informs the direction of therapeutic modulation in drug development
Robert Chen, Áine Duffy, Joshua K Park, et al.
Maternal and Child Health Journal
|
September 16, 2024
Integrating a Parenting Assessment into Practice: Pediatric Providers' Time and Perspectives
Amber J Cooke, Tahra I Attar, Victoria L Carr, et al.
Page
of 13