Pages that link to "Q50644835"

The following pages link to Yoshihiro Hotta (Q50644835):

Displaying 45 items.

• Two novel mutations in the EYS gene are possible major causes of autosomal recessive retinitis pigmentosa in the Japanese population (Q24306041) (← links)
• Q118X mutation of M1S1 gene caused gelatinous drop-like corneal dystrophy: the P501T of BIGH3 gene found in a family with gelatinous drop-like corneal dystrophy (Q28139534) (← links)
• A new L527R mutation of the betaIGH3 gene in patients with lattice corneal dystrophy with deep stromal opacities (Q28287508) (← links)
• Different mutation of the XLRS1 gene causes juvenile retinoschisis with retinal white flecks (Q28354108) (← links)
• Clinical features of a Japanese case with Bothnia dystrophy. (Q34101804) (← links)
• Point mutations of rhodopsin gene found in Japanese families with autosomal dominant retinitis pigmentosa (ADRP) (Q34252783) (← links)
• Evaluation of Surgical Strategy Based on the Intraoperative Superior Oblique Tendon Traction Test (Q36228207) (← links)
• Genotype-phenotype correlation of PAX6 gene mutations in aniridia (Q36596992) (← links)
• Novel OPN1LW/OPN1MW deletion mutations in 2 Japanese families with blue cone monochromacy. (Q36936591) (← links)
• A hemizygous A to CC base change of the CHM gene causing choroideremia associated with pinealoma. (Q38342055) (← links)
• Long-Term Clinical Course in a Patient with Complete Congenital Stationary Night Blindness. (Q38781808) (← links)
• Clinical phenotype in ten unrelated Japanese patients with mutations in the EYS gene. (Q40093168) (← links)
• Novel GUCY2D Gene Mutations in Japanese Male Twins with Leber Congenital Amaurosis. (Q41108843) (← links)
• Enhanced S-cone syndrome with subfoveal neovascularization. (Q43946510) (← links)
• REP-1 gene mutations in Japanese patients with choroideremia. (Q44356918) (← links)
• Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations (Q45074305) (← links)
• Diagnosis of Leber's optic neuropathy by means of polymerase chain reaction amplification. (Q45189512) (← links)
• Novel RDH5 mutation in family with mother having fundus albipunctatus and three children with retinitis pigmentosa. (Q46685245) (← links)
• Ascorbic acid concentration in rabbit vitreous measured by microdialysis with HPLC-electrochemical detection before and after vitreous surgery. (Q46833511) (← links)
• Homozygotic patient with betaig-h3 gene mutation in granular dystrophy. (Q48036118) (← links)
• Visual Outcomes in Japanese Patients with Retinitis Pigmentosa and Usher Syndrome Caused by USH2A Mutations. (Q48174554) (← links)
• The first USH2A mutation analysis of Japanese autosomal recessive retinitis pigmentosa patients: a totally different mutation profile with the lack of frequent mutations found in Caucasian patients (Q50644810) (← links)
• Case of a Japanese patient with X-linked ocular albinism associated with the GPR143 gene mutation (Q54386220) (← links)
• Long-term follow-up of two sisters with Leber's Hereditary Optic Neuropathy. (Q54619722) (← links)
• X-linked Retinitis Pigmentosa in Japan: Clinical and Genetic Findings in Male Patients and Female Carriers (Q64119545) (← links)
• Clinical features of Japanese family with autosomal dominant retinitis pigmentosa caused by point mutation in codon 347 of rhodopsin gene (Q68216543) (← links)
• Expression defect of ornithine aminotransferase gene in gyrate atrophy (Q68505795) (← links)
• Molecular genetics of ornithine aminotransferase defect in gyrate atrophy (Q69377862) (← links)
• Clinical features of Japanese Leber's hereditary optic neuropathy with 11778 mutation of mitochondrial DNA (Q71979329) (← links)
• Six different mutations of TGFBI (betaig-h3, keratoepithelin) gene found in Japanese corneal dystrophies (Q73233186) (← links)
• Visual function in retinitis pigmentosa related to a codon 15 rhodopsin gene mutation (Q74246379) (← links)
• Missense mutations in the PAX6 gene in aniridia (Q77695552) (← links)
• Low frequency of oncogenic mutations in the core promoter region of the RB1 gene (Q77780761) (← links)
• Arg124Cys mutation of the betaig-h3 bene in a Japanese family with lattice corneal dystrophy type I (Q77788356) (← links)
• Visual impairment and REP-1 gene mutations in Japanese choroideremia patients (Q78040714) (← links)
• Leu518Pro mutation of the beta ig-h3 gene causes lattice corneal dystrophy type I (Q78245093) (← links)
• Three novel mutations of the PAX6 gene in Japanese aniridia patients (Q80478064) (← links)
• Paraoxonase 1 gene polymorphisms influence clinical features of open-angle glaucoma (Q82255008) (← links)
• Novel mutations in the OPA1 gene and associated clinical features in Japanese patients with optic atrophy (Q82712509) (← links)
• Novel HPS6 mutations identified by whole-exome sequencing in two Japanese sisters with suspected ocular albinism (Q89287901) (← links)
• Clinical and genetic findings of a Japanese patient with RP1-related autosomal recessive retinitis pigmentosa (Q90356391) (← links)
• Long-term observation of a Japanese mucolipidosis IV patient with a novel homozygous p.F313del variant of MCOLN1 (Q90706241) (← links)
• A case of childhood glaucoma with a combined partial monosomy 6p25 and partial trisomy 18p11 due to an unbalanced translocation (Q90728142) (← links)
• Novel biallelic splice-site BBS1 variants in Bardet-Biedle syndrome: a case report of the first Japanese patient (Q93042611) (← links)
• Analysis of IKBKG/NEMO gene in five Japanese cases of incontinentia pigmenti with retinopathy: fine genomic assay of a rare male case with mosaicism (Q99248445) (← links)