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Molecular Therapy. Nucleic Acids
|
March 5, 2024
Effective AAV-mediated gene replacement therapy in retinal organoids modeling AIPL1-associated LCA4
Hali Sai, Bethany Ollington, Farah O Rezek, et al.
Stem Cell Reports
|
June 13, 2020
Modeling and Rescue of RP2 Retinitis Pigmentosa Using iPSC-Derived Retinal Organoids
Amelia Lane, Katarina Jovanovic, Ciara Shortall, et al.
Human Molecular Genetics
|
May 6, 2017
REEP6 deficiency leads to retinal degeneration through disruption of ER homeostasis and protein trafficking
Smriti A Agrawal, Thomas Burgoyne, Aiden Eblimit, et al.
Human Molecular Genetics
|
October 9, 2014
Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cells
Nele Schwarz, Amanda-Jayne Carr, Amelia Lane, et al.
Cell Stem Cell
|
May 7, 2016
Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups
David A Parfitt, Amelia Lane, Conor M Ramsden, et al.
Molecular Therapy. Nucleic Acids
|
August 17, 2018
Splice-Modulating Oligonucleotide QR-110 Restores CEP290 mRNA and Function in Human c.2991+1655A>G LCA10 Models
Kalyan Dulla, Monica Aguila, Amelia Lane, et al.
Scientific Reports
|
September 23, 2016
Mislocalisation of BEST1 in iPSC-derived retinal pigment epithelial cells from a family with autosomal dominant vitreoretinochoroidopathy (ADVIRC)
David A Carter, Matthew J K Smart, William V G Letton, et al.
American Journal of Human Genetics
|
February 1, 2025
Inter-chromosomal insertions at Xq27.1 associated with retinal dystrophy induce dysregulation of LINC00632 and CDR1as/ciRS-7
Jessica C Gardner, Katarina Jovanovic, Daniele Ottaviani, et al.
American Journal of Medical Genetics. Part A
|
June 14, 2019
Delineating the expanding phenotype associated with SCAPER gene mutation
James Fasham, Gavin Arno, Siying Lin, et al.
American Journal of Human Genetics
|
November 28, 2016
Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa
Gavin Arno, Smriti A Agrawal, Aiden Eblimit, et al.
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Showing results (11-20 of 20) with videos related to
Sort By:
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You have reached the last page of results.
This site can display upto 20 results.
Molecular Therapy. Nucleic Acids
|
March 5, 2024
Effective AAV-mediated gene replacement therapy in retinal organoids modeling AIPL1-associated LCA4
Hali Sai, Bethany Ollington, Farah O Rezek, et al.
Stem Cell Reports
|
June 13, 2020
Modeling and Rescue of RP2 Retinitis Pigmentosa Using iPSC-Derived Retinal Organoids
Amelia Lane, Katarina Jovanovic, Ciara Shortall, et al.
Human Molecular Genetics
|
May 6, 2017
REEP6 deficiency leads to retinal degeneration through disruption of ER homeostasis and protein trafficking
Smriti A Agrawal, Thomas Burgoyne, Aiden Eblimit, et al.
Human Molecular Genetics
|
October 9, 2014
Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cells
Nele Schwarz, Amanda-Jayne Carr, Amelia Lane, et al.
Cell Stem Cell
|
May 7, 2016
Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups
David A Parfitt, Amelia Lane, Conor M Ramsden, et al.
Molecular Therapy. Nucleic Acids
|
August 17, 2018
Splice-Modulating Oligonucleotide QR-110 Restores CEP290 mRNA and Function in Human c.2991+1655A>G LCA10 Models
Kalyan Dulla, Monica Aguila, Amelia Lane, et al.
Scientific Reports
|
September 23, 2016
Mislocalisation of BEST1 in iPSC-derived retinal pigment epithelial cells from a family with autosomal dominant vitreoretinochoroidopathy (ADVIRC)
David A Carter, Matthew J K Smart, William V G Letton, et al.
American Journal of Human Genetics
|
February 1, 2025
Inter-chromosomal insertions at Xq27.1 associated with retinal dystrophy induce dysregulation of LINC00632 and CDR1as/ciRS-7
Jessica C Gardner, Katarina Jovanovic, Daniele Ottaviani, et al.
American Journal of Medical Genetics. Part A
|
June 14, 2019
Delineating the expanding phenotype associated with SCAPER gene mutation
James Fasham, Gavin Arno, Siying Lin, et al.
American Journal of Human Genetics
|
November 28, 2016
Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa
Gavin Arno, Smriti A Agrawal, Aiden Eblimit, et al.
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of 2