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CNS Neuroscience & Therapeutics, ISSN 1755-5930, 05/2018, Volume 24, Issue 5, pp. i - i
Journal Article
CNS Neuroscience & Therapeutics, ISSN 1755-5930, 05/2018, Volume 24, Issue 5, p. i
Journal Article
Stem Cell Research, ISSN 1873-5061, 12/2018, Volume 33, pp. 251 - 254
Retinitis pigmentosa (RP) is an inherited retinal degenerative disease. Mutations in have been associated with autosomal recessive RP. The human iPS cell line,... 
BIOTECHNOLOGY & APPLIED MICROBIOLOGY | CELL & TISSUE ENGINEERING | CELL BIOLOGY | Genetic aspects | Research | Gene mutations | Retinitis pigmentosa | Stem cells | Cell lines | Index Medicus
Journal Article
CNS Neuroscience & Therapeutics, ISSN 1755-5930, 05/2018, Volume 24, Issue 5, pp. 448 - 455
Journal Article
Stem Cell Research, ISSN 1873-5061, 04/2019, Volume 36, pp. 101426 - 101426
PRPF31 gene codes for a ubiquitously expressed splicing factor but mutations affect exclusively the retina, producing the progressive death of photoreceptor... 
BIOTECHNOLOGY & APPLIED MICROBIOLOGY | CELL & TISSUE ENGINEERING | CELL BIOLOGY | Genetic aspects | Research | Gene mutations | Retinitis pigmentosa | Stem cells
Journal Article
STEM CELLS, ISSN 1066-5099, 09/2010, Volume 28, Issue 9, pp. 1541 - 1549
Journal Article
Medecine/Sciences, ISSN 0767-0974, 03/2010, Volume 26, Issue 3, pp. 241 - 244
Journal Article
Stem Cell Research, ISSN 1873-5061, 07/2019, Volume 38, pp. 101473 - 101473
Age-related macular degeneration (AMD) is the leading cause of adult blindness in developed countries and is characterized by progressive degeneration of the... 
BIOTECHNOLOGY & APPLIED MICROBIOLOGY | CELL & TISSUE ENGINEERING | CELL BIOLOGY | Macular degeneration | Immunocytochemistry | Blood cells | Analysis | Genetic aspects | Research | Diagnosis | Risk factors
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 1998, Volume 62, Issue 3, pp. 526 - 532
a locus for autosomal dominant “zonular pulverulent” cataract, previously had been linked with the Duffy blood-group–antigen locus on chromosome 1q. Here we... 
Cataract, zonular pulverulent | Chromosome 1q | CZP1 linkage to 1q | Zonular pulverulent cataract | GJA8 mutation | Connexin50 gene
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2012, Volume 90, Issue 2, pp. 321 - 330
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 2010, Volume 51, Issue 8, pp. 4266 - 4272
Journal Article