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Scientific Reports, ISSN 2045-2322, 08/2015, Volume 5, Issue 1, pp. 13187 - 13187
Journal Article
Ophthalmology, ISSN 0161-6420, 2017, Volume 124, Issue 7, pp. 992 - 1003
Journal Article
Journal Article
Ophthalmology, ISSN 0161-6420, 05/2018, Volume 125, Issue 5, pp. 725 - 734
To analyze the genetic and clinical findings in retinitis pigmentosa (RP) patients of Ashkenazi Jewish (AJ) descent, aiming to identify genotype–phenotype... 
Journal Article
Ophthalmology, ISSN 0161-6420, 05/2018, Volume 125, Issue 5, pp. 725 - 734
Purpose: To analyze the genetic and clinical findings in retinitis pigmentosa (RP) patients of Ashkenazi Jewish (AJ) descent, aiming to identify... 
MUTATION ANALYSIS | IDENTIFY | USHER-SYNDROME | FAMILIES | OPHTHALMOLOGY | DOLICHOL | PREVALENCE | KINASE MAK | IDENTIFICATION | CILIARY LENGTH | DEGENERATION | Genetic research | Retinitis pigmentosa
Journal Article
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 04/2016, Volume 25, Issue 8, pp. 1479 - 1488
Journal Article
Ultrasound in Obstetrics & Gynecology, ISSN 0960-7692, 01/2019, Volume 53, Issue 1, pp. 80 - 86
Journal Article
Human mutation, ISSN 1059-7794, 9/2015, Volume 36, Issue 9, pp. 836 - 841
Genetic analysis of clinical phenotypes in consanguineous families is complicated by co-inheritance of large DNA regions carrying independent variants. Here we... 
DYSF | retinal degeneration | vision loss | pleiotropic phenotypes | ALMS1 | photoreceptor
Journal Article
Journal Article
Ophthalmology, 12/2017
To analyze the genetic and clinical findings in retinitis pigmentosa (RP) patients of Ashkenazi Jewish (AJ) descent, aiming to identify genotype-phenotype... 
Journal Article
Ophthalmic Genetics, ISSN 1381-6810, 10/2016, Volume 37, Issue 4, pp. 366 - 368
Journal Article
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