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Type
Text
15
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7
Format
application/pdf
15
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7
Collection
Discovery and Innovation at Universit...
7
NOVEL - Journal of Neuro-Ophthalmology
4
NOVEL - NANOS Annual Meeting
1
Theses & Dissertations
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UScholar Works
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Subject:
"Mutation"
Year Start:
1953
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Title
Date
Type
Setname
1
A Novel De Novo KIF21A Variant in a Patient With Congenital Fibrosis of the Extraocular Muscles With a Syndromic CFEOM Phenotype
2021-03
Text
ehsl_novel_jno
2
Acetazolamide-Induced Nephrolithiasis in Idiopathic Intracranial Hypertension Patients
2016-06
Text
ehsl_novel_jno
3
The ACT3 gene and epigenetics
1997-08
Text
ir_etd
4
Correcting the Genetic Error in Sickle Cell Disease
2016
Image
ehsl_50disc
5
Cuban Epidemic Optic Neuropathy
1996-09
Text
ehsl_novel_jno
6
Defining Essential Regions of the Human Genome
2019
Image
ehsl_50disc
7
Diversification of Hox gene function as a consequence of evolution in cis-regulator sequences.
2001-05
Text
ir_etd
8
Function of a Gene Linked to Autism
2017
Image
ehsl_50disc
9
The Genetic Testing Paradigm for Leber's Hereditary Optic Neuropathy: Discovery of a New Candidate LHON Mitochondrial DNA Mutation
2004-03-31
Text
ehsl_novel_nam
10
Homeotic genes and regional specification in Drosophila: characterization of the abdominalA gene and mechanisms of transcriptional control by homeotic proteins
1993-06
Text
ir_etd
11
Host-Microbe Battles over Iron
2015
Image
ehsl_50disc
12
The Impact of Leber Hereditary Optic Neuropathy on the Quality of Life of Patients and Their Relatives: A Qualitative Study
2022-09
Text
ehsl_novel_jno
13
Interaction of DNA-binding protein H-NS with the flagellar motor of E. coli
2013-12
Text
ir_etd
14
Lethal mutations in the isoprenoid pathway of salmonella enterica
2006
Text
ir_uspace
15
Megakaryocytes and Platelets in Immune and Inflammatory Responses and in COVID-19
2020
Image
ehsl_50disc
16
Modeling the amplification dynamics of human Alu retrotransposons
2005
Text
ir_uspace
17
Pyridine transport and assimilation in salmonella enterica
2002-08-14
Text
ir_etd
18
Removing the vertebrate-specific TBP N terminus disrupts placental beta2m-dependent interactions with the maternal immune system
2002-07-12
Text
ir_uspace
19
The Role of IDH Mutation in Human Brain Tumors
2015
Image
ehsl_50disc
20
Slippery runs, shifty stops, backward steps and forward hops: -2, -1, +1, +2, +5 and +6 Ribosomal frameshifting
1987
Text
ir_uspace
21
Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy
2004
Text
ir_uspace
22
Structure and Function of the Polycystic Kidney Disease Channel
2018
Image
ehsl_50disc
1
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25
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22