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Molecular Vision, ISSN 1090-0535, 07/2018, Volume 24, pp. 478 - 484
Purpose: Inherited retinal dystrophies are a clinically and genetically heterogeneous group of disorders. Molecular diagnosis has proven utility for affected... 
LEBER CONGENITAL AMAUROSIS | BIOCHEMISTRY & MOLECULAR BIOLOGY | RECESSIVE RETINITIS-PIGMENTOSA | DISOMY | PHENOTYPE | OPHTHALMOLOGY | MUTATIONS | EXPRESSION | STARGARDT-DISEASE | FAMILY
Journal Article
Stem Cell Research, ISSN 1873-5061, 10/2019, Volume 40, p. 101549
Variants in have been implicated in inherited retinal disease (IRD). Here, we generated induced pluripotent stem cells (iPSCs) from a 45-year-old female IRD... 
Journal Article
Clinical & Experimental Ophthalmology, ISSN 1442-6404, 11/2015, Volume 43, Issue 8, pp. 727 - 734
Journal Article
Clinical & Experimental Ophthalmology, ISSN 1442-6404, 09/2015, Volume 43, Issue 7, pp. 643 - 647
Journal Article
Stem cell research, 12/2018, Volume 34, p. 101357
We report the generation of the human iPSC line LEIi008-A from a patient with retinitis pigmentosa-11 caused by a dominant nonsense mutation in the PRPF31 gene... 
Journal Article
Clinical & Experimental Ophthalmology, ISSN 1442-6404, 07/2013, Volume 41, Issue 5, pp. 476 - 483
Journal Article
Molecular Vision, ISSN 1090-0535, 01/2018, Volume 24, p. 478
Purpose: Inherited retinal dystrophies are a clinically and genetically heterogeneous group of disorders. Molecular diagnosis has proven utility for affected... 
Congenital diseases | Nucleotide sequence | Retinitis pigmentosa | Myopia | Chromosome 6 | Retina | Single-nucleotide polymorphism | Nyctalopia | Gene polymorphism | Uniparental disomy | Blindness | Nystagmus | Retinal degeneration | Retinitis | Dystrophy | Diagnosis | Deoxyribonucleic acid--DNA
Journal Article
Stem Cell Research, ISSN 1873-5061, 01/2019, Volume 34, p. 101352
We report the generation of the human iPSC line LEIi007-A from a patient with autosomal recessive Stargardt disease caused by compound heterozygous mutations... 
BIOTECHNOLOGY & APPLIED MICROBIOLOGY | CELL & TISSUE ENGINEERING | CELL BIOLOGY | Macular degeneration | Stem cell research | Tissue engineering | Stem cells | Genetic aspects | Research | Methods
Journal Article
Stem Cell Research, ISSN 1873-5061, 05/2019, Volume 37, p. 101452
We report the generation of the iPSC line LEIi005-B from a patient with retinitis pigmentosa caused by a dominant nonsense mutation in the gene (c.2098G>T... 
BIOTECHNOLOGY & APPLIED MICROBIOLOGY | CELL & TISSUE ENGINEERING | CELL BIOLOGY
Journal Article
Stem Cell Research, ISSN 1873-5061, 01/2019, Volume 34, p. 101357
We report the generation of the human iPSC line LEIi008-A from a patient with retinitis pigmentosa-11 caused by a dominant nonsense mutation in the gene... 
BIOTECHNOLOGY & APPLIED MICROBIOLOGY | RETINITIS-PIGMENTOSA | HAPLOINSUFFICIENCY | CELL & TISSUE ENGINEERING | CELL BIOLOGY | Genetic aspects | Research | Gene mutations | Retinitis pigmentosa | Stem cells
Journal Article
Stem Cell Research, ISSN 1873-5061, 04/2019, Volume 36, p. 101420
The human iPSC lines LEIi010-A and LEIi010-B were generated from the dermal fibroblasts of a patient with Usher syndrome using episomal plasmids containing , ,... 
USHER-SYNDROME | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | CELL & TISSUE ENGINEERING | CELL BIOLOGY | Usher's syndrome | Karyotypes | Genetic aspects | Research | Gene mutations | Stem cells
Journal Article
Clinical & Experimental Ophthalmology, ISSN 1442-6404, 11/2015, Volume 43, Issue 8, pp. 727 - 734
Journal Article
Stem cell research, 11/2018, Volume 34, p. 101352
We report the generation of the human iPSC line LEIi007-A from a patient with autosomal recessive Stargardt disease caused by compound heterozygous mutations... 
Journal Article
Molecular Genetics & Genomic Medicine, ISSN 2324-9269, 11/2017, Volume 5, Issue 6, pp. 652 - 667
Journal Article