Filters: Subject: "Mutation" Type: "Text"
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TitleDateTypeSetname
1 A Novel De Novo KIF21A Variant in a Patient With Congenital Fibrosis of the Extraocular Muscles With a Syndromic CFEOM Phenotype2021-03Textehsl_novel_jno
2 A Rare Mutation Associated With Probable Late-Onset Leber's Hereditary Optic Neuropathy2020-09Textehsl_novel_jno
3 Acetazolamide-Induced Nephrolithiasis in Idiopathic Intracranial Hypertension Patients2016-06Textehsl_novel_jno
4 The ACT3 gene and epigenetics1997-08Textir_etd
5 Clinical Features of Chinese Sporadic Leber Hereditary Optic Neuropathy Caused by Rare Primary mtDNA Mutations2020-03Textehsl_novel_jno
6 Clinical Features of Chinese Sporadic Leber Hereditary Optic Neuropathy Caused by Rare Primary mtDNA Mutations2020-03Textehsl_novel_jno
7 Combined Optic Atrophy and Rod-Cone Dystrophy Expands the RTN4IP1 (Optic Atrophy 10) Phenotype2021-09Textehsl_novel_jno
8 Conversion to Leber Hereditary Optic Neuropathy After Hyperbaric Oxygen Therapy2023-09Textehsl_novel_jno
9 Cuban Epidemic Optic Neuropathy1996-09Textehsl_novel_jno
10 Diversification of Hox gene function as a consequence of evolution in cis-regulator sequences.2001-05Textir_etd
11 Evaluation of Vision-Related Quality of Life in Chinese Patients With Leber Hereditary Optic Neuropathy and the G11778A Mutation.2019-03Textehsl_novel_jno
12 The Genetic Testing Paradigm for Leber's Hereditary Optic Neuropathy: Discovery of a New Candidate LHON Mitochondrial DNA Mutation2004-03-31Textehsl_novel_nam
13 Homeotic genes and regional specification in Drosophila: characterization of the abdominalA gene and mechanisms of transcriptional control by homeotic proteins1993-06Textir_etd
14 Horizontal Gaze Palsy and Progressive Scoliosis With ROBO 3 Mutations in Patients From Cape Verde2017-06Textehsl_novel_jno
15 Infantile Presentation of Leber Hereditary Optic Neuropathy 'Plus' Disease2019-06Textehsl_novel_jno
16 Interaction of DNA-binding protein H-NS with the flagellar motor of E. coli2013-12Textir_etd
17 Leber Hereditary Optic Neuropathy in a Family of Carriers of MT-ND5 m.13042G>T (A236S) Novel Variant2023-09Textehsl_novel_jno
18 Leber Hereditary Optic Neuropathy in a Mother and Daughter Associated With m.10197G>A Mutation2019-03Textehsl_novel_jno
19 Lethal mutations in the isoprenoid pathway of salmonella enterica2006Textir_uspace
20 Modeling the amplification dynamics of human Alu retrotransposons2005Textir_uspace
21 Multilocus Mitochondrial Mutations Do Not Directly Affect the Efficacy of Gene Therapy for Leber Hereditary Optic Neuropathy2020-03Textehsl_novel_jno
22 Multilocus Mitochondrial Mutations Do Not Directly Affect the Efficacy of Gene Therapy for Leber Hereditary Optic Neuropathy2020-03Textehsl_novel_jno
23 Novel Mitochondrial Translation Optimizer-1 Mutations as a Cause of Hereditary Optic Neuropathy2020-09Textehsl_novel_jno
24 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
25 Optic Nerve Involvement in Farber Lipogranulomatosis: Expanding the Phenotypic Spectrum2019-09Textehsl_novel_jno
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