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Parkinsonism & Related Disorders
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February 9, 2025
Big data and transformative bioinformatics in genomic diagnostics and beyond
Alice Saparov, Michael Zech
Medrxiv : the Preprint Server for Health Sciences
|
January 13, 2025
From Text to Translation: Using Language Models to Prioritize Variants for Clinical Review
Weijiang Li, Xiaomin Li, Ethan Lavallee, et al.
Genome Medicine
|
May 20, 2026
From text to translation: using language models to prioritize variants for clinical review
Weijiang Li, Xiaomin Li, Ethan Lavallee, et al.
Population Health Management
|
August 5, 2024
Social Determinants of Hepatitis C Virus Infection in the United States, 2016-2021
Justin K Niles, Alexandra Panov, Alice Saparov, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
April 25, 2025
Expanding the Allelic and Clinical Heterogeneity of Movement Disorders Linked to Defects of Mitochondrial Adenosine Triphosphate Synthase
Philip Harrer, Magdalena Krygier, Martin Krenn, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
July 9, 2026
Resolving Complex Structural Variants in Undiagnosed Rare Movement Disorders via Multimodal Genomics and Multi-omics
Ugo Sorrentino, Melanie Brugger, Alice Saparov, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
April 10, 2026
Neurodevelopmental Disorder with Dystonia and Chorea Linked to De Novo Variants in the Splicing Regulator SRRM4
Philip Harrer, Volker Kittke, Alice Saparov, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
October 1, 2025
Integrating Long-Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia
Ugo Sorrentino, Martin Pavlov, Nazanin Mirza-Schreiber, et al.
Annals of Neurology
|
February 2, 2026
Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort
Alice Saparov, Ivana Dzinovic, Theresa Brunet, et al.
Brain : a Journal of Neurology
|
June 11, 2025
Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy
Maureen Jacob, Heike Kölbel, Philip Harrer, et al.
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Search research articles
Search
Showing results (1-10 of 11) with videos related to
Sort By:
Page
of 2
Parkinsonism & Related Disorders
|
February 9, 2025
Big data and transformative bioinformatics in genomic diagnostics and beyond
Alice Saparov, Michael Zech
Medrxiv : the Preprint Server for Health Sciences
|
January 13, 2025
From Text to Translation: Using Language Models to Prioritize Variants for Clinical Review
Weijiang Li, Xiaomin Li, Ethan Lavallee, et al.
Genome Medicine
|
May 20, 2026
From text to translation: using language models to prioritize variants for clinical review
Weijiang Li, Xiaomin Li, Ethan Lavallee, et al.
Population Health Management
|
August 5, 2024
Social Determinants of Hepatitis C Virus Infection in the United States, 2016-2021
Justin K Niles, Alexandra Panov, Alice Saparov, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
April 25, 2025
Expanding the Allelic and Clinical Heterogeneity of Movement Disorders Linked to Defects of Mitochondrial Adenosine Triphosphate Synthase
Philip Harrer, Magdalena Krygier, Martin Krenn, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
July 9, 2026
Resolving Complex Structural Variants in Undiagnosed Rare Movement Disorders via Multimodal Genomics and Multi-omics
Ugo Sorrentino, Melanie Brugger, Alice Saparov, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
April 10, 2026
Neurodevelopmental Disorder with Dystonia and Chorea Linked to De Novo Variants in the Splicing Regulator SRRM4
Philip Harrer, Volker Kittke, Alice Saparov, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
October 1, 2025
Integrating Long-Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia
Ugo Sorrentino, Martin Pavlov, Nazanin Mirza-Schreiber, et al.
Annals of Neurology
|
February 2, 2026
Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort
Alice Saparov, Ivana Dzinovic, Theresa Brunet, et al.
Brain : a Journal of Neurology
|
June 11, 2025
Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy
Maureen Jacob, Heike Kölbel, Philip Harrer, et al.
Page
of 2