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List of works by Kei Mizobuchi

Characterization of GUCA1A-associated dominant cone/cone-rod dystrophy: low prevalence among Japanese patients with inherited retinal dystrophies

scientific article published on 14 November 2019

Clinical findings of end-stage retinitis pigmentosa with a homozygous variant (p.R653X)

scientific article published on 19 December 2018

Coexistence of GNAT1 and ABCA4 variants associated with Nougaret-type congenital stationary night blindness and childhood-onset cone-rod dystrophy

scientific article published on 03 October 2019

Electroretinographic abnormalities associated with pregabalin: a case report

scientific article published on 03 January 2020

Long-term observation of a Japanese mucolipidosis IV patient with a novel homozygous p.F313del variant of MCOLN1

scientific article published on 27 March 2020

Mild accidental macular injury induced by picosecond Nd:YAG laser

scientific article published on 04 December 2019

Novel biallelic TRPM1 variants in an elderly patient with complete congenital stationary night blindness

scientific article published on 17 October 2020

Novel biallelic loss-of-function KCNV2 variants in cone dystrophy with supernormal rod responses

scientific article published on 15 March 2019

Novel biallelic splice-site BBS1 variants in Bardet-Biedle syndrome: a case report of the first Japanese patient

scientific article published on 29 January 2020

Novel homozygous CLN3 missense variant in isolated retinal dystrophy: A case report and electron microscopic findings

scientific article published on 22 May 2020

X-linked Retinitis Pigmentosa in Japan: Clinical and Genetic Findings in Male Patients and Female Carriers ⬇️

scientific article published on 26 March 2019

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