Filters: Subject: "Mutation"
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TitleDateTypeSetname
26 Multilocus Mitochondrial Mutations Do Not Directly Affect the Efficacy of Gene Therapy for Leber Hereditary Optic Neuropathy2020-03Textehsl_novel_jno
27 Multilocus Mitochondrial Mutations Do Not Directly Affect the Efficacy of Gene Therapy for Leber Hereditary Optic Neuropathy2020-03Textehsl_novel_jno
28 Novel Mitochondrial Translation Optimizer-1 Mutations as a Cause of Hereditary Optic Neuropathy2020-09Textehsl_novel_jno
29 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
30 Optic Nerve Involvement in Farber Lipogranulomatosis: Expanding the Phenotypic Spectrum2019-09Textehsl_novel_jno
31 Papilledema and Cerebral Venous Sinus Thrombosis Due to JAK2 Mutation2022-03Textehsl_novel_jno
32 Papilledema and Extensive Dural Sinus Thrombosis Due to JAK2 Mutation2021-09Textehsl_novel_jno
33 Prothrombin G20210A Mutation Causing Nonarteritic Anterior Ischemic Optic Neuropathy in a Young Patient2020-09Textehsl_novel_jno
34 Ptosis as Clinical Presentation in a Patient With Emery-Dreifuss Muscular Dystrophy Type 52021-09Textehsl_novel_jno
35 Pyridine transport and assimilation in salmonella enterica2002-08-14Textir_etd
36 Removing the vertebrate-specific TBP N terminus disrupts placental beta2m-dependent interactions with the maternal immune system2002-07-12Textir_uspace
37 Reversal of Vision Loss in a 49-Year-Old Man With Progressive Optic Atrophy Due to Profound Biotinidase Deficiency2021-03Textehsl_novel_jno
38 The Role of IDH Mutation in Human Brain Tumors2015Imageehsl_50disc
39 Slippery runs, shifty stops, backward steps and forward hops: -2, -1, +1, +2, +5 and +6 Ribosomal frameshifting1987Textir_uspace
40 Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy2004Textir_uspace
41 Structure and Function of the Polycystic Kidney Disease Channel2018Imageehsl_50disc
42 Variable Presentation of Leber Hereditary Optic Neuropathy in Children of a Family Harboring a Rare m.13051GA mtDNA Mutation2020-12Textehsl_novel_jno
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