Filters: Format: "application/pdf" Subject: "Mutation"
1 - 25 of 15
Number of results to display per page
TitleDateTypeSetname
1 Periodic alternating nystagmus and periodic alternating skew deviation in spinocerebellar ataxia type 6.ehsl_novel_jno
2 Periodic alternating nystagmus and periodic alternating skew deviation in spinocerebellar ataxia type 6.ehsl_novel_jno
3 Interaction of DNA-binding protein H-NS with the flagellar motor of E. coli2013-12Textir_etd
4 Multilocus Mitochondrial Mutations Do Not Directly Affect the Efficacy of Gene Therapy for Leber Hereditary Optic Neuropathy2020-03Textehsl_novel_jno
5 Multilocus Mitochondrial Mutations Do Not Directly Affect the Efficacy of Gene Therapy for Leber Hereditary Optic Neuropathy2020-03Textehsl_novel_jno
6 Congenital Myasthenic Syndrome Due to Homozygous CHRNE Mutations- Report of Patients in Arabiaehsl_novel_jno
7 Reversal of Vision Loss in a 49-Year-Old Man With Progressive Optic Atrophy Due to Profound Biotinidase Deficiency2021-03Textehsl_novel_jno
8 Lack of Differences Among Mitochondrial DNA in Family Members with Lebers Hereditary Optic Neuropathy and Differing Visual Outcomesehsl_novel_jno
9 Optic Atrophy and a Leigh-Like Syndrome Due to Mutations in the C12orf65 Gene: Report of a Novel Mutation and Review of the Literatureehsl_novel_jno
10 Prothrombin G20210A Mutation Causing Nonarteritic Anterior Ischemic Optic Neuropathy in a Young Patient2020-09Textehsl_novel_jno
11 Clinical Features of Chinese Sporadic Leber Hereditary Optic Neuropathy Caused by Rare Primary mtDNA Mutations2020-03Textehsl_novel_jno
12 Clinical Features of Chinese Sporadic Leber Hereditary Optic Neuropathy Caused by Rare Primary mtDNA Mutations2020-03Textehsl_novel_jno
13 Leber Hereditary Optic Neuropathy in a Family of Carriers of MT-ND5 m.13042G>T (A236S) Novel Variant2023-09Textehsl_novel_jno
14 Lightning Strikes Twiceehsl_novel_jno
15 The ACT3 gene and epigenetics1997-08Textir_etd
1 - 25 of 15