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Thomas Cassini

Showing results (11-20 of 17) with videos related to

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Advances in Health Sciences Education : Theory and Practice|October 20, 2022
Exploring US internal medicine resident career preferences: a Q-methodology studyJohn K Roberts, Micah Schub, Surbhi Singhal, et al.
Journal of Inherited Metabolic Disease|May 1, 2022
Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases ProgramCarolina Montano, Thomas Cassini, Shira G Ziegler, et al.
American Journal of Medical Genetics. Part A|August 21, 2025
Case Series of Nizon-Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid-Triploid MosaicismRussell Stewart, Kimberly M Ezell, Deanna S Bell, et al.
Medrxiv : the Preprint Server for Health Sciences|October 14, 2024
Resolution of <i>SLC6A1</i> variable expressivity in a multi-generational family using deep clinical phenotyping and <i>Drosophila</i> modelsKristy L Jay, Nikhita Gogate, Kim Ezell, et al.
HGG Advances|November 1, 2025
Resolving SLC6A1 variable expressivity with deep clinical phenotyping and Drosophila modelsKristy L Jay, Nikhita Gogate, Paige I Hall, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 20, 2026
RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohortDena R Matalon, Angela L Duker, Taylor M Arriaga, et al.
Annals of Neurology|July 1, 2025
The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case SeriesSarah M Brooker, Maria Novelli, Robert Coukos, et al.
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Showing results (11-20 of 17) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 17 results.
Advances in Health Sciences Education : Theory and Practice|October 20, 2022
Exploring US internal medicine resident career preferences: a Q-methodology studyJohn K Roberts, Micah Schub, Surbhi Singhal, et al.
Journal of Inherited Metabolic Disease|May 1, 2022
Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases ProgramCarolina Montano, Thomas Cassini, Shira G Ziegler, et al.
American Journal of Medical Genetics. Part A|August 21, 2025
Case Series of Nizon-Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid-Triploid MosaicismRussell Stewart, Kimberly M Ezell, Deanna S Bell, et al.
Medrxiv : the Preprint Server for Health Sciences|October 14, 2024
Resolution of <i>SLC6A1</i> variable expressivity in a multi-generational family using deep clinical phenotyping and <i>Drosophila</i> modelsKristy L Jay, Nikhita Gogate, Kim Ezell, et al.
HGG Advances|November 1, 2025
Resolving SLC6A1 variable expressivity with deep clinical phenotyping and Drosophila modelsKristy L Jay, Nikhita Gogate, Paige I Hall, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 20, 2026
RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohortDena R Matalon, Angela L Duker, Taylor M Arriaga, et al.
Annals of Neurology|July 1, 2025
The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case SeriesSarah M Brooker, Maria Novelli, Robert Coukos, et al.
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