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Year Number of Results
2003 1
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2010 4
2011 1
2012 4
2013 1
2014 2
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2016 1
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2022 1
2024 0

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Page 1
Identification of a novel large multigene deletion and a frameshift indel in PDE6B as the underlying cause of early-onset recessive rod-cone degeneration.
Sangermano R, Biswas P, Sullivan LS, Place EM, Borooah S, Straubhaar J, Pierce EA, Daiger SP, Bujakowska KM, Ayaggari R. Sangermano R, et al. Cold Spring Harb Mol Case Stud. 2022 Dec 28;8(7):a006247. doi: 10.1101/mcs.a006247. Print 2022 Dec. Cold Spring Harb Mol Case Stud. 2022. PMID: 36376065 Free PMC article.
Ocular Phenotype of a Family with FAM161A-associated Retinal Degeneration.
Duncan JL, Biswas P, Kozak I, Navani M, Syed R, Soudry S, Menghini M, Caruso RC, Jeffrey BG, Heckenlively JR, Reddy GB, Lee P, Roorda A, Ayyagari R. Duncan JL, et al. Ophthalmic Genet. 2016;37(1):44-52. doi: 10.3109/13816810.2014.929716. Epub 2014 Jul 9. Ophthalmic Genet. 2016. PMID: 25007332 Free PMC article.
20 results