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Genetics
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June 14, 2023
A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster
Sharayu V Jangam, Lauren C Briere, Kristy L Jay, 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> models
Kristy L Jay, Nikhita Gogate, Kim Ezell, et al.
Cell Reports
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July 22, 2023
A comprehensive Drosophila resource to identify key functional interactions between SARS-CoV-2 factors and host proteins
Annabel Guichard, Shenzhao Lu, Oguz Kanca, et al.
HGG Advances
|
November 1, 2025
Resolving SLC6A1 variable expressivity with deep clinical phenotyping and Drosophila models
Kristy L Jay, Nikhita Gogate, Paige I Hall, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 22, 2024
Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly
Yue Huang, Kristy L Jay, Alden Yen-Wen Huang, et al.
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of 1
Search research articles
Search
Showing results (1-10 of 5) with videos related to
Sort By:
Page
of 1
Genetics
|
June 14, 2023
A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster
Sharayu V Jangam, Lauren C Briere, Kristy L Jay, 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> models
Kristy L Jay, Nikhita Gogate, Kim Ezell, et al.
Cell Reports
|
July 22, 2023
A comprehensive Drosophila resource to identify key functional interactions between SARS-CoV-2 factors and host proteins
Annabel Guichard, Shenzhao Lu, Oguz Kanca, et al.
HGG Advances
|
November 1, 2025
Resolving SLC6A1 variable expressivity with deep clinical phenotyping and Drosophila models
Kristy L Jay, Nikhita Gogate, Paige I Hall, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 22, 2024
Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly
Yue Huang, Kristy L Jay, Alden Yen-Wen Huang, et al.
Page
of 1