Filters: Subject: "Mutation" Type: "Text" Format: "application/pdf"
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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 Acetazolamide-Induced Nephrolithiasis in Idiopathic Intracranial Hypertension Patients2016-06Textehsl_novel_jno
3 Cuban Epidemic Optic Neuropathy1996-09Textehsl_novel_jno
4 Diversification of Hox gene function as a consequence of evolution in cis-regulator sequences.2001-05Textir_etd
5 Homeotic genes and regional specification in Drosophila: characterization of the abdominalA gene and mechanisms of transcriptional control by homeotic proteins1993-06Textir_etd
6 Interaction of DNA-binding protein H-NS with the flagellar motor of E. coli2013-12Textir_etd
7 Lethal mutations in the isoprenoid pathway of salmonella enterica2006Textir_uspace
8 Modeling the amplification dynamics of human Alu retrotransposons2005Textir_uspace
9 Pyridine transport and assimilation in salmonella enterica2002-08-14Textir_etd
10 Removing the vertebrate-specific TBP N terminus disrupts placental beta2m-dependent interactions with the maternal immune system2002-07-12Textir_uspace
11 Slippery runs, shifty stops, backward steps and forward hops: -2, -1, +1, +2, +5 and +6 Ribosomal frameshifting1987Textir_uspace
12 Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy2004Textir_uspace
13 The ACT3 gene and epigenetics1997-08Textir_etd
14 The Impact of Leber Hereditary Optic Neuropathy on the Quality of Life of Patients and Their Relatives: A Qualitative Study2022-09Textehsl_novel_jno
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