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Human Mutation
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January 29, 2003
Mutations in the CACNA1F and NYX genes in British CSNBX families
Ilaria Zito, Louise E Allen, Reshma J Patel, et al.
Plant Biotechnology Journal
|
April 20, 2017
Molecular engineering and plant expression of an immunoglobulin heavy chain scaffold for delivery of a dengue vaccine candidate
Mi-Young Kim, Craig Van Dolleweerd, Alastair Copland, et al.
American Journal of Ophthalmology
|
March 19, 2013
A longitudinal study of stargardt disease: clinical and electrophysiologic assessment, progression, and genotype correlations
Kaoru Fujinami, Noemi Lois, Alice E Davidson, et al.
Bioorganic & Medicinal Chemistry Letters
|
March 29, 2021
Discovery of an indole-substituted furanone with tubulin polymerization inhibition activity
Patricia Mowery, Madison M Filkorn, Brianna Hurysz, et al.
Molecular Therapy. Nucleic Acids
|
June 17, 2026
Antisense oligonucleotide allele-specific targeting of EFEMP1 in a patient-derived model of Doyne honeycomb retinal dystrophy
Farah O Rezek, Beatriz Sanchez-Pintado, Emily R Eden, et al.
American Journal of Ophthalmology
|
May 12, 2019
Clinical and Molecular Characterization of Familial Exudative Vitreoretinopathy Associated With Microcephaly
Sarah Hull, Gavin Arno, Pia Ostergaard, et al.
Investigative Ophthalmology & Visual Science
|
May 10, 2012
Early onset retinal dystrophy due to mutations in LRAT: molecular analysis and detailed phenotypic study
Arundhati Dev Borman, Louise A Ocaka, Donna S Mackay, et al.
JAMA Ophthalmology
|
June 4, 2016
Molecular and Clinical Findings in Patients With Knobloch Syndrome
Sarah Hull, Gavin Arno, Cristy A Ku, et al.
American Journal of Human Genetics
|
May 6, 2014
Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy
Panagiotis I Sergouniotis, Christina Chakarova, Cian Murphy, et al.
JAMA Ophthalmology
|
May 31, 2014
Expansion of ocular phenotypic features associated with mutations in ADAMTS18
Aman Chandra, Gavin Arno, Kathleen Williamson, et al.
Page
of 125
Search research articles
Search
Showing results (1001-1010 of 1,250) with videos related to
Sort By:
Page
of 125
Human Mutation
|
January 29, 2003
Mutations in the CACNA1F and NYX genes in British CSNBX families
Ilaria Zito, Louise E Allen, Reshma J Patel, et al.
Plant Biotechnology Journal
|
April 20, 2017
Molecular engineering and plant expression of an immunoglobulin heavy chain scaffold for delivery of a dengue vaccine candidate
Mi-Young Kim, Craig Van Dolleweerd, Alastair Copland, et al.
American Journal of Ophthalmology
|
March 19, 2013
A longitudinal study of stargardt disease: clinical and electrophysiologic assessment, progression, and genotype correlations
Kaoru Fujinami, Noemi Lois, Alice E Davidson, et al.
Bioorganic & Medicinal Chemistry Letters
|
March 29, 2021
Discovery of an indole-substituted furanone with tubulin polymerization inhibition activity
Patricia Mowery, Madison M Filkorn, Brianna Hurysz, et al.
Molecular Therapy. Nucleic Acids
|
June 17, 2026
Antisense oligonucleotide allele-specific targeting of EFEMP1 in a patient-derived model of Doyne honeycomb retinal dystrophy
Farah O Rezek, Beatriz Sanchez-Pintado, Emily R Eden, et al.
American Journal of Ophthalmology
|
May 12, 2019
Clinical and Molecular Characterization of Familial Exudative Vitreoretinopathy Associated With Microcephaly
Sarah Hull, Gavin Arno, Pia Ostergaard, et al.
Investigative Ophthalmology & Visual Science
|
May 10, 2012
Early onset retinal dystrophy due to mutations in LRAT: molecular analysis and detailed phenotypic study
Arundhati Dev Borman, Louise A Ocaka, Donna S Mackay, et al.
JAMA Ophthalmology
|
June 4, 2016
Molecular and Clinical Findings in Patients With Knobloch Syndrome
Sarah Hull, Gavin Arno, Cristy A Ku, et al.
American Journal of Human Genetics
|
May 6, 2014
Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy
Panagiotis I Sergouniotis, Christina Chakarova, Cian Murphy, et al.
JAMA Ophthalmology
|
May 31, 2014
Expansion of ocular phenotypic features associated with mutations in ADAMTS18
Aman Chandra, Gavin Arno, Kathleen Williamson, et al.
Page
of 125