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Publications by Niamh Wynne

Multimodal Imaging in a Pedigree of X-Linked Retinoschisis With a Novel RS1 Variant

BMC Medical Genetics
Genetics
2018English

Related publications

Cog-Wheel Octameric Structure of RS1, the Discoidin Domain Containing Retinal Protein Associated With X-Linked Retinoschisis

PLoS ONE
Multidisciplinary
2016English

X-Linked Retinoschisis: Phenotypic Variability in a Chinese Family

Scientific Reports
Multidisciplinary
2016English

Ocular and Systemic Safety of a Recombinant AAV8 Vector for X-Linked Retinoschisis Gene Therapy: GLP Studies in Rabbits and Rs1-Ko Mice

Molecular Therapy - Methods and Clinical Development
Molecular MedicineGeneticsMolecular Biology
2016English

Retinal Function in X-Linked Juvenile Retinoschisis

Investigative Ophthalmology and Visual Science
Molecular NeuroscienceOphthalmologySensory SystemsCellular
2019English

A Novel GJB1 Mutation Associated With X‐linked Charcot–Marie–Tooth Disease in a Large Chinese Family Pedigree

Molecular genetics & genomic medicine
GeneticsMolecular Biology
2020English

Novel Heterozygous BPIFC Variant in a Chinese Pedigree With Hereditary Trichilemmal Cysts

Molecular genetics & genomic medicine
GeneticsMolecular Biology
2019English

A Novel Splicing Site Mutation of the GPR143 Gene in a Chinese X-Linked Ocular Albinism Pedigree

Genetics and Molecular Research
MedicineGeneticsMolecular Biology
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Refractory Macular Edema in X-Linked Juvenile Retinoschisis

Ophthalmology Journal
2019English

Bullous X Linked Retinoschisis: Clinical Features and Prognosis

British Journal of Ophthalmology
Molecular NeuroscienceOphthalmologySensory SystemsCellular
2017English

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