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Nature Genetics
|
February 12, 2002
Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene
Tamio Suzuki, Wei Li, Qing Zhang, et al.
Human Molecular Genetics
|
May 28, 2021
Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders
Linda M Reis, Elena A Sorokina, Lubica Dudakova, et al.
Ophthalmology. Glaucoma
|
November 28, 2025
Glaucoma Management in Sturge-Weber Syndrome Using the Delphi Process
Kinza Abbas, Bailey Harrison, Ta Chen Peter Chang, et al.
Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
|
June 25, 2019
Survey of practice patterns for the management of ophthalmic genetic disorders among AAPOS members: report by the AAPOS Genetic Eye Disease Task Force
Arlene V Drack, Virginia Miraldi Utz, Kai Wang, et al.
The Journal of Clinical Investigation
|
December 5, 2017
Patients and animal models of CNGβ1-deficient retinitis pigmentosa support gene augmentation approach
Simon M Petersen-Jones, Laurence M Occelli, Paige A Winkler, et al.
BMC Medical Genetics
|
May 2, 2006
Eight previously unidentified mutations found in the OA1 ocular albinism gene
Hélène Mayeur, Olivier Roche, Christelle Vêtu, et al.
The American Journal of Forensic Medicine and Pathology
|
November 29, 2007
Guidelines for postmortem protocol for ocular investigation of sudden unexplained infant death and suspected physical child abuse
M G F Gilliland, Alex V Levin, Robert W Enzenauer, et al.
Investigative Ophthalmology & Visual Science
|
February 7, 2025
Gene Variant Spectrum in Probands With Familial Exudative Vitreoretinopathy Using an Expanded Panel
Sarah van der Ende, Karen Bedard, Karin Wallace, et al.
The British Journal of Ophthalmology
|
November 25, 2010
The role of Frizzled-4 mutations in familial exudative vitreoretinopathy and Coats disease
Johane M Robitaille, Binyou Zheng, Karin Wallace, et al.
Eye (London, England)
|
July 31, 2024
Clinical outcomes in paediatric tubulointerstitial nephritis and uveitis syndrome (TINU)
Mallory Mandel, Abdelrahman M Elhusseiny, Stefanie L Davidson, et al.
Page
of 24
Search research articles
Search
Showing results (211-220 of 231) with videos related to
Sort By:
Page
of 24
Nature Genetics
|
February 12, 2002
Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene
Tamio Suzuki, Wei Li, Qing Zhang, et al.
Human Molecular Genetics
|
May 28, 2021
Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders
Linda M Reis, Elena A Sorokina, Lubica Dudakova, et al.
Ophthalmology. Glaucoma
|
November 28, 2025
Glaucoma Management in Sturge-Weber Syndrome Using the Delphi Process
Kinza Abbas, Bailey Harrison, Ta Chen Peter Chang, et al.
Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
|
June 25, 2019
Survey of practice patterns for the management of ophthalmic genetic disorders among AAPOS members: report by the AAPOS Genetic Eye Disease Task Force
Arlene V Drack, Virginia Miraldi Utz, Kai Wang, et al.
The Journal of Clinical Investigation
|
December 5, 2017
Patients and animal models of CNGβ1-deficient retinitis pigmentosa support gene augmentation approach
Simon M Petersen-Jones, Laurence M Occelli, Paige A Winkler, et al.
BMC Medical Genetics
|
May 2, 2006
Eight previously unidentified mutations found in the OA1 ocular albinism gene
Hélène Mayeur, Olivier Roche, Christelle Vêtu, et al.
The American Journal of Forensic Medicine and Pathology
|
November 29, 2007
Guidelines for postmortem protocol for ocular investigation of sudden unexplained infant death and suspected physical child abuse
M G F Gilliland, Alex V Levin, Robert W Enzenauer, et al.
Investigative Ophthalmology & Visual Science
|
February 7, 2025
Gene Variant Spectrum in Probands With Familial Exudative Vitreoretinopathy Using an Expanded Panel
Sarah van der Ende, Karen Bedard, Karin Wallace, et al.
The British Journal of Ophthalmology
|
November 25, 2010
The role of Frizzled-4 mutations in familial exudative vitreoretinopathy and Coats disease
Johane M Robitaille, Binyou Zheng, Karin Wallace, et al.
Eye (London, England)
|
July 31, 2024
Clinical outcomes in paediatric tubulointerstitial nephritis and uveitis syndrome (TINU)
Mallory Mandel, Abdelrahman M Elhusseiny, Stefanie L Davidson, et al.
Page
of 24