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Medrxiv : the Preprint Server for Health Sciences
|
November 24, 2025
A statistical framework for evaluating the repeatability and reproducibility of large language models
Cathy Shyr, Boyu Ren, Chih-Yuan Hsu, et al.
Molecular Genetics & Genomic Medicine
|
September 15, 2022
A novel, likely pathogenic variant in UBTF-related neurodegeneration with brain atrophy is associated with a severe divergent neurodevelopmental phenotype
Rory J Tinker, Tiffany Guess, David C Rinker, et al.
American Journal of Medical Genetics. Part A
|
April 27, 2026
Diagnostic Odyssey of Atypical Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants
Yutaka Furuta, Lynette C Rives, T Andrew Burrow, et al.
American Journal of Medical Genetics. Part A
|
March 21, 2024
Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variant
Kimberly M Ezell, Rory J Tinker, Yutaka Furuta, et al.
American Journal of Medical Genetics. Part A
|
October 14, 2024
Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network
Nicholas A Borja, Rory J Tinker, Stephanie A Bivona, et al.
American Journal of Medical Genetics. Part A
|
October 28, 2023
Probable digenic inheritance of Diamond-Blackfan anemia
Yutaka Furuta, Rory J Tinker, Alican Gulsevin, et al.
Cancer
|
June 8, 2026
Clinicopathologic characteristics of early-onset breast cancer among unselected young Black women
Heather K Beasley, Tiana Shah, Rory J Tinker, et al.
Journal of Medicinal Chemistry
|
November 7, 1998
2-Fluoro-4-pyridinylmethyl analogues of linopirdine as orally active acetylcholine release-enhancing agents with good efficacy and duration of action
R A Earl, R Zaczek, C A Teleha, et al.
Kidney International Reports
|
June 17, 2026
Enrichment of Rare Mitochondrial DNA Variants Among Individuals With Kidney Disease Reveals Undiagnosed Mitochondrial Disease
Daniel R Schecter, Rory J Tinker, Patrick O'Connell, et al.
American Journal of Medical Genetics. Part A
|
May 29, 2023
The contribution of mosaicism to genetic diseases and de novo pathogenic variants
Rory J Tinker, Lisa Bastarache, Kimberly Ezell, et al.
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of 13
Search research articles
Search
Showing results (101-110 of 124) with videos related to
Sort By:
Page
of 13
Medrxiv : the Preprint Server for Health Sciences
|
November 24, 2025
A statistical framework for evaluating the repeatability and reproducibility of large language models
Cathy Shyr, Boyu Ren, Chih-Yuan Hsu, et al.
Molecular Genetics & Genomic Medicine
|
September 15, 2022
A novel, likely pathogenic variant in UBTF-related neurodegeneration with brain atrophy is associated with a severe divergent neurodevelopmental phenotype
Rory J Tinker, Tiffany Guess, David C Rinker, et al.
American Journal of Medical Genetics. Part A
|
April 27, 2026
Diagnostic Odyssey of Atypical Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants
Yutaka Furuta, Lynette C Rives, T Andrew Burrow, et al.
American Journal of Medical Genetics. Part A
|
March 21, 2024
Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variant
Kimberly M Ezell, Rory J Tinker, Yutaka Furuta, et al.
American Journal of Medical Genetics. Part A
|
October 14, 2024
Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network
Nicholas A Borja, Rory J Tinker, Stephanie A Bivona, et al.
American Journal of Medical Genetics. Part A
|
October 28, 2023
Probable digenic inheritance of Diamond-Blackfan anemia
Yutaka Furuta, Rory J Tinker, Alican Gulsevin, et al.
Cancer
|
June 8, 2026
Clinicopathologic characteristics of early-onset breast cancer among unselected young Black women
Heather K Beasley, Tiana Shah, Rory J Tinker, et al.
Journal of Medicinal Chemistry
|
November 7, 1998
2-Fluoro-4-pyridinylmethyl analogues of linopirdine as orally active acetylcholine release-enhancing agents with good efficacy and duration of action
R A Earl, R Zaczek, C A Teleha, et al.
Kidney International Reports
|
June 17, 2026
Enrichment of Rare Mitochondrial DNA Variants Among Individuals With Kidney Disease Reveals Undiagnosed Mitochondrial Disease
Daniel R Schecter, Rory J Tinker, Patrick O'Connell, et al.
American Journal of Medical Genetics. Part A
|
May 29, 2023
The contribution of mosaicism to genetic diseases and de novo pathogenic variants
Rory J Tinker, Lisa Bastarache, Kimberly Ezell, et al.
Page
of 13