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Cold Spring Harbor Molecular Case Studies
|
June 5, 2019
A case of Coffin-Siris syndrome with severe congenital heart disease and a novel <i>SMARCA4</i> variant
Nikita R Dsouza, Michael T Zimmermann, Gabrielle C Geddes
International Journal of Molecular Sciences
|
November 27, 2024
Assessing Protein Surface-Based Scoring for Interpreting Genomic Variants
Nikita R Dsouza, Neshatul Haque, Swarnendu Tripathi, et al.
Bioinformatics (Oxford, England)
|
November 23, 2020
Structural bioinformatics enhances mechanistic interpretation of genomic variation, demonstrated through the analyses of 935 distinct RAS family mutations
Swarnendu Tripathi, Nikita R Dsouza, Raul Urrutia, et al.
Bioorganic & Medicinal Chemistry Letters
|
August 6, 2018
Discovery of small molecule inhibitors of adenovirus by disrupting E3-19K/HLA-A2 interactions
Jinhong Ren, Nikita R Dsouza, Hui Deng, et al.
Computational and Structural Biotechnology Journal
|
January 3, 2022
Enhanced interpretation of 935 hotspot and non-hotspot RAS variants using evidence-based structural bioinformatics
Swarnendu Tripathi, Nikita R Dsouza, Angela J Mathison, et al.
Plos One
|
February 7, 2020
Discovery, expression, cellular localization, and molecular properties of a novel, alternative spliced HP1γ isoform, lacking the chromoshadow domain
Angela Mathison, Thiago Milech De Assuncao, Nikita R Dsouza, et al.
Cold Spring Harbor Molecular Case Studies
|
October 13, 2019
Novel biallelic variants in <i>MSTO1</i> associated with mitochondrial myopathy
Laura Schultz-Rogers, Alejandro Ferrer, Nikita R Dsouza, et al.
Parkinsonism & Related Disorders
|
July 27, 2020
Novel destabilizing Dynactin variant (DCTN1 p.Tyr78His) in patient with Perry syndrome
Marek Čierny, Sam I Hooshmand, Dominic Fee, et al.
Plos One
|
April 24, 2020
Interaction between Mas1 and AT1RA contributes to enhancement of skeletal muscle angiogenesis by angiotensin-(1-7) in Dahl salt-sensitive rats
Eric C Exner, Aron M Geurts, Brian R Hoffmann, et al.
Life (Basel, Switzerland)
|
March 28, 2024
Structural and Dynamic Analyses of Pathogenic Variants in <i>PIK3R1</i> Reveal a Shared Mechanism Associated among Cancer, Undergrowth, and Overgrowth Syndromes
Nikita R Dsouza, Catherine E Cottrell, Olivia M T Davies, et al.
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Search research articles
Search
Showing results (1-10 of 24) with videos related to
Sort By:
Page
of 3
Cold Spring Harbor Molecular Case Studies
|
June 5, 2019
A case of Coffin-Siris syndrome with severe congenital heart disease and a novel <i>SMARCA4</i> variant
Nikita R Dsouza, Michael T Zimmermann, Gabrielle C Geddes
International Journal of Molecular Sciences
|
November 27, 2024
Assessing Protein Surface-Based Scoring for Interpreting Genomic Variants
Nikita R Dsouza, Neshatul Haque, Swarnendu Tripathi, et al.
Bioinformatics (Oxford, England)
|
November 23, 2020
Structural bioinformatics enhances mechanistic interpretation of genomic variation, demonstrated through the analyses of 935 distinct RAS family mutations
Swarnendu Tripathi, Nikita R Dsouza, Raul Urrutia, et al.
Bioorganic & Medicinal Chemistry Letters
|
August 6, 2018
Discovery of small molecule inhibitors of adenovirus by disrupting E3-19K/HLA-A2 interactions
Jinhong Ren, Nikita R Dsouza, Hui Deng, et al.
Computational and Structural Biotechnology Journal
|
January 3, 2022
Enhanced interpretation of 935 hotspot and non-hotspot RAS variants using evidence-based structural bioinformatics
Swarnendu Tripathi, Nikita R Dsouza, Angela J Mathison, et al.
Plos One
|
February 7, 2020
Discovery, expression, cellular localization, and molecular properties of a novel, alternative spliced HP1γ isoform, lacking the chromoshadow domain
Angela Mathison, Thiago Milech De Assuncao, Nikita R Dsouza, et al.
Cold Spring Harbor Molecular Case Studies
|
October 13, 2019
Novel biallelic variants in <i>MSTO1</i> associated with mitochondrial myopathy
Laura Schultz-Rogers, Alejandro Ferrer, Nikita R Dsouza, et al.
Parkinsonism & Related Disorders
|
July 27, 2020
Novel destabilizing Dynactin variant (DCTN1 p.Tyr78His) in patient with Perry syndrome
Marek Čierny, Sam I Hooshmand, Dominic Fee, et al.
Plos One
|
April 24, 2020
Interaction between Mas1 and AT1RA contributes to enhancement of skeletal muscle angiogenesis by angiotensin-(1-7) in Dahl salt-sensitive rats
Eric C Exner, Aron M Geurts, Brian R Hoffmann, et al.
Life (Basel, Switzerland)
|
March 28, 2024
Structural and Dynamic Analyses of Pathogenic Variants in <i>PIK3R1</i> Reveal a Shared Mechanism Associated among Cancer, Undergrowth, and Overgrowth Syndromes
Nikita R Dsouza, Catherine E Cottrell, Olivia M T Davies, et al.
Page
of 3