Filters: Format: "application/pdf" Subject: "DNA Mutational Analysis"
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TitleDateTypeSetname
1 A Case of Atypical Leber Hereditary Optic Neuropathy With Slow, Symmetrical Progression Over Three Years2018-09Textehsl_novel_jno
2 A Rare Mutation Associated With Probable Late-Onset Leber's Hereditary Optic Neuropathy2020-09Textehsl_novel_jno
3 Atypical Late-Onset Leber Hereditary Optic Neuropathy (LHON) Associated With T14484C Mutation2024-06Textehsl_novel_jno
4 Atypical Ocular Coloboma in Tuberous Sclerosis-2: Report of Two Novel Cases2021-09Textehsl_novel_jno
5 Autosomal dominant cone dystrophy caused by a novel mutation in the GCAP1 gene (GUCA1A)2005Textir_uspace
6 Cuban Epidemic Optic Neuropathy1996-09Textehsl_novel_jno
7 Evaluation of Vision-Related Quality of Life in Chinese Patients With Leber Hereditary Optic Neuropathy and the G11778A Mutation.2019-03Textehsl_novel_jno
8 Gene targeting. How efficient can you get?1990-11-08Textir_uspace
9 Genotype-phenotype analysis of ABCR variants in macular degeneration probands and siblings2002Textir_uspace
10 Horizontal Gaze Palsy and Progressive Scoliosis With ROBO 3 Mutations in Patients From Cape Verde2017-06Textehsl_novel_jno
11 Leber Hereditary Optic Neuropathy: Visual Recovery in a Patient With the Rare m.3890G>A Point Mutation2017-06Textehsl_novel_jno
12 Novel GCAP1 missense mutation (L151F) in a large family with autosomal dominant cone-rod dystrophy (adCORD)2005Textir_uspace
13 Novel Mitochondrial Translation Optimizer-1 Mutations as a Cause of Hereditary Optic Neuropathy2020-09Textehsl_novel_jno
14 Novel mutation (I143NT) in guanylate cyclase-activating protein 1 (GCAP1) associated with autosomal dominant cone degeneration2004Textir_uspace
15 Novel Mutations in the ND5 Gene Associated With Leber Hereditary Optic Neuropathy2024-06Textehsl_novel_jno
16 Novel Mutations of mtDNA m.14568G>A/m.14568C>T in MT-ND6 and m.7299A>G in MT-CO1: Evidence of Pathogenicity in Leber Hereditary Optic Neuropathy2020-12Textehsl_novel_jno
17 Ocular Manifestations of PNPT1-Related Neuropathy2021-09Textehsl_novel_jno
18 Ptosis as Clinical Presentation in a Patient With Emery-Dreifuss Muscular Dystrophy Type 52021-09Textehsl_novel_jno
19 Variable Presentation of Leber Hereditary Optic Neuropathy in Children of a Family Harboring a Rare m.13051GA mtDNA Mutation2020-12Textehsl_novel_jno
20 Visual Outcomes in Leber Hereditary Optic Neuropathy Patients With the m.11778GA MTND4 Mitochondrial DNA Mutation2020-12Textehsl_novel_jno
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