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Research Square
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June 5, 2025
Variants in the ciliopathy gene SCLT1 are associated with non-syndromic retinal degeneration
Riccardo Sangermano, Kaoru Fujinami, Suk Ho Byeon, et al.
Journal of Steroid Biochemistry
|
May 1, 1987
Glucocorticoid receptors bound to the antagonist RU486 are not downregulated despite their capacity to interact in vitro with defined gene regions
E J Rajpert, F P Lemaigre, P H Eliard, et al.
Origins
|
February 13, 2002
Reaction to President Bush's decision on embryonic stem-cell research
J Fiorenza, W Keeler, J Rigali, et al.
Nucleic Acids Research
|
April 7, 2025
Altering translation allows E. coli to overcome G-quadruplex stabilizers
Rachel R Cueny, Andrew F Voter, Aidan M McKenzie, et al.
Ophthalmic Genetics
|
January 21, 2022
Novel <i>RCBTB1</i> variants causing later-onset non-syndromic retinal dystrophy with macular chorioretinal atrophy
Andrew J Catomeris, Brian G Ballios, Riccardo Sangermano, et al.
Medrxiv : the Preprint Server for Health Sciences
|
July 18, 2023
Structure-based network analysis predicts mutations associated with inherited retinal disease
Blake M Hauser, Yuyang Luo, Anusha Nathan, et al.
Biorxiv : the Preprint Server for Biology
|
August 26, 2024
Altering translation allows <i>E. coli</i> to overcome chemically stabilized G-quadruplexes
Rachel R Cueny, Andrew F Voter, Aidan M McKenzie, et al.
Cold Spring Harbor Molecular Case Studies
|
November 3, 2021
A hidden structural variation in a known IRD gene: a cautionary tale of two new disease candidate genes
Hilary A Scott, Anna Larson, Shi Song Rong, et al.
American Journal of Human Genetics
|
December 23, 2025
Low population penetrance of variants associated with inherited retinal degenerations
Kirill Zaslavsky, Liyin Chen, Chloe Park, et al.
JCI Insight
|
September 12, 2024
Targeted long-read sequencing enriches disease-relevant genomic regions of interest to provide complete Mendelian disease diagnostics
Kenji Nakamichi, Jennifer Huey, Riccardo Sangermano, et al.
Page
of 11
Search research articles
Search
Showing results (71-80 of 105) with videos related to
Sort By:
Page
of 11
Research Square
|
June 5, 2025
Variants in the ciliopathy gene SCLT1 are associated with non-syndromic retinal degeneration
Riccardo Sangermano, Kaoru Fujinami, Suk Ho Byeon, et al.
Journal of Steroid Biochemistry
|
May 1, 1987
Glucocorticoid receptors bound to the antagonist RU486 are not downregulated despite their capacity to interact in vitro with defined gene regions
E J Rajpert, F P Lemaigre, P H Eliard, et al.
Origins
|
February 13, 2002
Reaction to President Bush's decision on embryonic stem-cell research
J Fiorenza, W Keeler, J Rigali, et al.
Nucleic Acids Research
|
April 7, 2025
Altering translation allows E. coli to overcome G-quadruplex stabilizers
Rachel R Cueny, Andrew F Voter, Aidan M McKenzie, et al.
Ophthalmic Genetics
|
January 21, 2022
Novel <i>RCBTB1</i> variants causing later-onset non-syndromic retinal dystrophy with macular chorioretinal atrophy
Andrew J Catomeris, Brian G Ballios, Riccardo Sangermano, et al.
Medrxiv : the Preprint Server for Health Sciences
|
July 18, 2023
Structure-based network analysis predicts mutations associated with inherited retinal disease
Blake M Hauser, Yuyang Luo, Anusha Nathan, et al.
Biorxiv : the Preprint Server for Biology
|
August 26, 2024
Altering translation allows <i>E. coli</i> to overcome chemically stabilized G-quadruplexes
Rachel R Cueny, Andrew F Voter, Aidan M McKenzie, et al.
Cold Spring Harbor Molecular Case Studies
|
November 3, 2021
A hidden structural variation in a known IRD gene: a cautionary tale of two new disease candidate genes
Hilary A Scott, Anna Larson, Shi Song Rong, et al.
American Journal of Human Genetics
|
December 23, 2025
Low population penetrance of variants associated with inherited retinal degenerations
Kirill Zaslavsky, Liyin Chen, Chloe Park, et al.
JCI Insight
|
September 12, 2024
Targeted long-read sequencing enriches disease-relevant genomic regions of interest to provide complete Mendelian disease diagnostics
Kenji Nakamichi, Jennifer Huey, Riccardo Sangermano, et al.
Page
of 11