Filters: Format: "application/pdf" Subject: "Mutation"
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TitleDateTypeSetname
1 Modeling the amplification dynamics of human Alu retrotransposons2005Textir_uspace
2 Removing the vertebrate-specific TBP N terminus disrupts placental beta2m-dependent interactions with the maternal immune system2002-07-12Textir_uspace
3 Multilocus Mitochondrial Mutations Do Not Directly Affect the Efficacy of Gene Therapy for Leber Hereditary Optic Neuropathy2020-03Textehsl_novel_jno
4 Multilocus Mitochondrial Mutations Do Not Directly Affect the Efficacy of Gene Therapy for Leber Hereditary Optic Neuropathy2020-03Textehsl_novel_jno
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 A Rare Mutation Associated With Probable Late-Onset Leber's Hereditary Optic Neuropathy2020-09Textehsl_novel_jno
8 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
9 Variable Presentation of Leber Hereditary Optic Neuropathy in Children of a Family Harboring a Rare m.13051GA mtDNA Mutation2020-12Textehsl_novel_jno
10 Acetazolamide-Induced Nephrolithiasis in Idiopathic Intracranial Hypertension Patients2016-06Textehsl_novel_jno
11 Optic Nerve Involvement in Farber Lipogranulomatosis: Expanding the Phenotypic Spectrum2019-09Textehsl_novel_jno
12 Evaluation of Vision-Related Quality of Life in Chinese Patients With Leber Hereditary Optic Neuropathy and the G11778A Mutation.2019-03Textehsl_novel_jno
13 Lightning Strikes Twiceehsl_novel_jno
14 Conversion to Leber Hereditary Optic Neuropathy After Hyperbaric Oxygen Therapy2023-09Textehsl_novel_jno
15 A Novel De Novo KIF21A Variant in a Patient With Congenital Fibrosis of the Extraocular Muscles With a Syndromic CFEOM Phenotype2021-03Textehsl_novel_jno
16 Leber Hereditary Optic Neuropathy in a Family of Carriers of MT-ND5 m.13042G>T (A236S) Novel Variant2023-09Textehsl_novel_jno
17 Combined Optic Atrophy and Rod-Cone Dystrophy Expands the RTN4IP1 (Optic Atrophy 10) Phenotype2021-09Textehsl_novel_jno
18 Diversification of Hox gene function as a consequence of evolution in cis-regulator sequences.2001-05Textir_etd
19 Horizontal Gaze Palsy and Progressive Scoliosis With ROBO 3 Mutations in Patients From Cape Verde2017-06Textehsl_novel_jno
20 Reversal of Vision Loss in a 49-Year-Old Man With Progressive Optic Atrophy Due to Profound Biotinidase Deficiency2021-03Textehsl_novel_jno
21 Slippery runs, shifty stops, backward steps and forward hops: -2, -1, +1, +2, +5 and +6 Ribosomal frameshifting1987Textir_uspace
22 First Cases of Dominant Optic Atrophy in Saudi Arabia: Report of Two Novel OPA1 Mutationsehsl_novel_jno
23 Pyridine transport and assimilation in salmonella enterica2002-08-14Textir_etd
24 Ptosis as Clinical Presentation in a Patient With Emery-Dreifuss Muscular Dystrophy Type 52021-09Textehsl_novel_jno
25 Optic nerve sheath distention in Leber's optic neuropathy and the significance of the "Wallace mutation".ehsl_novel_jno
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