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Kinga M Bujakowska

Showing results (11-20 of 63) with videos related to

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JCI Insight|June 1, 2023
Natural history of retinitis pigmentosa based on genotype, vitamin A/E supplementation, and an electroretinogram biomarkerJason Comander, Carol Weigel DiFranco, Kit Sanderson, et al.
Molecular Vision|April 11, 2024
Two novel non-coding single nucleotide variants in the DNase1 hypersensitivity site of <i>PRDM13</i> causing North Carolina macular dystrophy in KoreaYuri Seo, Kwangsic Joo, Junwon Lee, et al.
Molecular Vision|October 25, 2017
The importance of genetic testing as demonstrated by two cases of <i>CACNA1F</i>-associated retinal generation misdiagnosed as LCAClara J Men, Kinga M Bujakowska, Jason Comander, et al.
Cold Spring Harbor Molecular Case Studies|November 14, 2022
Identification of a novel large multigene deletion and a frameshift indel in <i>PDE6B</i> as the underlying cause of early-onset recessive rod-cone degenerationRiccardo Sangermano, Pooja Biswas, Lori S Sullivan, et al.
Research Square|June 5, 2025
Variants in the ciliopathy gene SCLT1 are associated with non-syndromic retinal degenerationRiccardo Sangermano, Kaoru Fujinami, Suk Ho Byeon, et al.
Ophthalmic Genetics|January 21, 2022
Novel <i>RCBTB1</i> variants causing later-onset non-syndromic retinal dystrophy with macular chorioretinal atrophyAndrew 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 diseaseBlake M Hauser, Yuyang Luo, Anusha Nathan, 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 genesHilary 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 degenerationsKirill Zaslavsky, Liyin Chen, Chloe Park, et al.
JAMA Ophthalmology|April 19, 2019
Longitudinal Clinical Follow-up and Genetic Spectrum of Patients With Rod-Cone Dystrophy Associated With Mutations in PDE6A and PDE6BSamer Khateb, Marco Nassisi, Kinga M Bujakowska, et al.
Pageof 7

Showing results (11-20 of 63) with videos related to

Sort By:
Pageof 7
JCI Insight|June 1, 2023
Natural history of retinitis pigmentosa based on genotype, vitamin A/E supplementation, and an electroretinogram biomarkerJason Comander, Carol Weigel DiFranco, Kit Sanderson, et al.
Molecular Vision|April 11, 2024
Two novel non-coding single nucleotide variants in the DNase1 hypersensitivity site of <i>PRDM13</i> causing North Carolina macular dystrophy in KoreaYuri Seo, Kwangsic Joo, Junwon Lee, et al.
Molecular Vision|October 25, 2017
The importance of genetic testing as demonstrated by two cases of <i>CACNA1F</i>-associated retinal generation misdiagnosed as LCAClara J Men, Kinga M Bujakowska, Jason Comander, et al.
Cold Spring Harbor Molecular Case Studies|November 14, 2022
Identification of a novel large multigene deletion and a frameshift indel in <i>PDE6B</i> as the underlying cause of early-onset recessive rod-cone degenerationRiccardo Sangermano, Pooja Biswas, Lori S Sullivan, et al.
Research Square|June 5, 2025
Variants in the ciliopathy gene SCLT1 are associated with non-syndromic retinal degenerationRiccardo Sangermano, Kaoru Fujinami, Suk Ho Byeon, et al.
Ophthalmic Genetics|January 21, 2022
Novel <i>RCBTB1</i> variants causing later-onset non-syndromic retinal dystrophy with macular chorioretinal atrophyAndrew 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 diseaseBlake M Hauser, Yuyang Luo, Anusha Nathan, 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 genesHilary 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 degenerationsKirill Zaslavsky, Liyin Chen, Chloe Park, et al.
JAMA Ophthalmology|April 19, 2019
Longitudinal Clinical Follow-up and Genetic Spectrum of Patients With Rod-Cone Dystrophy Associated With Mutations in PDE6A and PDE6BSamer Khateb, Marco Nassisi, Kinga M Bujakowska, et al.
Pageof 7