Filters: Subject: "Mutation"
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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 The ACT3 gene and epigenetics1997-08Textir_etd
4 Correcting the Genetic Error in Sickle Cell Disease2016Imageehsl_50disc
5 Cuban Epidemic Optic Neuropathy1996-09Textehsl_novel_jno
6 Defining Essential Regions of the Human Genome2019Imageehsl_50disc
7 Diversification of Hox gene function as a consequence of evolution in cis-regulator sequences.2001-05Textir_etd
8 Function of a Gene Linked to Autism2017Imageehsl_50disc
9 Homeotic genes and regional specification in Drosophila: characterization of the abdominalA gene and mechanisms of transcriptional control by homeotic proteins1993-06Textir_etd
10 Host-Microbe Battles over Iron2015Imageehsl_50disc
11 The Impact of Leber Hereditary Optic Neuropathy on the Quality of Life of Patients and Their Relatives: A Qualitative Study2022-09Textehsl_novel_jno
12 Interaction of DNA-binding protein H-NS with the flagellar motor of E. coli2013-12Textir_etd
13 Lethal mutations in the isoprenoid pathway of salmonella enterica2006Textir_uspace
14 Megakaryocytes and Platelets in Immune and Inflammatory Responses and in COVID-192020Imageehsl_50disc
15 Modeling the amplification dynamics of human Alu retrotransposons2005Textir_uspace
16 Pyridine transport and assimilation in salmonella enterica2002-08-14Textir_etd
17 Removing the vertebrate-specific TBP N terminus disrupts placental beta2m-dependent interactions with the maternal immune system2002-07-12Textir_uspace
18 The Role of IDH Mutation in Human Brain Tumors2015Imageehsl_50disc
19 Slippery runs, shifty stops, backward steps and forward hops: -2, -1, +1, +2, +5 and +6 Ribosomal frameshifting1987Textir_uspace
20 Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy2004Textir_uspace
21 Structure and Function of the Polycystic Kidney Disease Channel2018Imageehsl_50disc
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