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JCI Insight
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March 22, 2019
Longitudinal adaptive optics fluorescence microscopy reveals cellular mosaicism in patients
HaeWon Jung, Jianfei Liu, Tao Liu, et al.
Ophthalmic Genetics
|
May 7, 2020
Atypical and ultra-rare Usher syndrome: a review
Rosalie M Nolen, Robert B Hufnagel, Thomas B Friedman, et al.
The British Journal of Ophthalmology
|
June 27, 2022
Novel ophthalmic findings and deep phenotyping in Williams-Beuren syndrome
Laryssa A Huryn, Taylor Flaherty, Rosalie Nolen, et al.
The Journal of Clinical Endocrinology and Metabolism
|
January 7, 2011
Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance
Penelope P Feuillan, David Ng, Joan C Han, et al.
BMC Bioinformatics
|
February 12, 2011
RedundancyMiner: De-replication of redundant GO categories in microarray and proteomics analysis
Barry R Zeeberg, Hongfang Liu, Ari B Kahn, et al.
Frontiers in Cell and Developmental Biology
|
March 21, 2025
A zebrafish model of <i>crim1</i> loss of function has small and misshapen lenses with dysregulated <i>clic4</i> and <i>fgf1b</i> expression
Tien Le, Stephanie Htun, Manoj Kumar Pandey, et al.
Prenatal Diagnosis
|
July 30, 2011
High-risk pregnancy and neonatal complications in the DNA repair and transcription disorder trichothiodystrophy: report of 27 affected pregnancies
Deborah Tamura, Melissa Merideth, John J DiGiovanna, et al.
Investigative Ophthalmology & Visual Science
|
September 11, 2023
RPGR: Deep Phenotyping and Genetic Characterization With Findings Specific to the 3'-end of ORF15
Matthew D Benson, Souvick Mukherjee, Aime R Agather, et al.
Plos Genetics
|
March 30, 2022
Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease
Jana Zernant, Winston Lee, Jun Wang, et al.
Molecular Vision
|
December 6, 2012
Absence of NR2E1 mutations in patients with aniridia
Ximena Corso-Díaz, Adrienne E Borrie, Russell Bonaguro, et al.
Page
of 16
Search research articles
Search
Showing results (81-90 of 158) with videos related to
Sort By:
Page
of 16
JCI Insight
|
March 22, 2019
Longitudinal adaptive optics fluorescence microscopy reveals cellular mosaicism in patients
HaeWon Jung, Jianfei Liu, Tao Liu, et al.
Ophthalmic Genetics
|
May 7, 2020
Atypical and ultra-rare Usher syndrome: a review
Rosalie M Nolen, Robert B Hufnagel, Thomas B Friedman, et al.
The British Journal of Ophthalmology
|
June 27, 2022
Novel ophthalmic findings and deep phenotyping in Williams-Beuren syndrome
Laryssa A Huryn, Taylor Flaherty, Rosalie Nolen, et al.
The Journal of Clinical Endocrinology and Metabolism
|
January 7, 2011
Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance
Penelope P Feuillan, David Ng, Joan C Han, et al.
BMC Bioinformatics
|
February 12, 2011
RedundancyMiner: De-replication of redundant GO categories in microarray and proteomics analysis
Barry R Zeeberg, Hongfang Liu, Ari B Kahn, et al.
Frontiers in Cell and Developmental Biology
|
March 21, 2025
A zebrafish model of <i>crim1</i> loss of function has small and misshapen lenses with dysregulated <i>clic4</i> and <i>fgf1b</i> expression
Tien Le, Stephanie Htun, Manoj Kumar Pandey, et al.
Prenatal Diagnosis
|
July 30, 2011
High-risk pregnancy and neonatal complications in the DNA repair and transcription disorder trichothiodystrophy: report of 27 affected pregnancies
Deborah Tamura, Melissa Merideth, John J DiGiovanna, et al.
Investigative Ophthalmology & Visual Science
|
September 11, 2023
RPGR: Deep Phenotyping and Genetic Characterization With Findings Specific to the 3'-end of ORF15
Matthew D Benson, Souvick Mukherjee, Aime R Agather, et al.
Plos Genetics
|
March 30, 2022
Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease
Jana Zernant, Winston Lee, Jun Wang, et al.
Molecular Vision
|
December 6, 2012
Absence of NR2E1 mutations in patients with aniridia
Ximena Corso-Díaz, Adrienne E Borrie, Russell Bonaguro, et al.
Page
of 16