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Common synonymous variants in ABCA4 are protective for chloroquine induced maculopathy (toxic maculopathy).
- Published in:
- 2015
- By:
- Publication type:
- journal article
Primary Failure of Eruption (PFE) – Clinical and Molecular Genetics Analysis.
- Published in:
- Journal of Orofacial Orthopedics/Fortschritte der Kieferorthopadie, 2010, v. 71, n. 1, p. 6, doi. 10.1007/s00056-010-0908-9
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- Publication type:
- Article
Level of hospital care and outcome of gastric cancer: a population-based evaluation of the Munich Cancer Registry.
- Published in:
- Journal of Cancer Research & Clinical Oncology, 2014, v. 140, n. 5, p. 789, doi. 10.1007/s00432-014-1632-4
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- Publication type:
- Article
A Prospective Evaluation of the Acute Effects of High Altitude on Cognitive and Physiological Functions in Lowlanders.
- Published in:
- Frontiers in Physiology, 2021, v. 11, p. N.PAG, doi. 10.3389/fphys.2021.670278
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- Publication type:
- Article
Assessment of RS1 in X-linked juvenile retinoschisis and sporadic senile retinoschisis.
- Published in:
- Clinical Genetics, 1999, v. 55, n. 6, p. 461, doi. 10.1034/j.1399-0004.1999.550611.x
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- Publication type:
- Article
Schizophrenia and Autism as Contrasting Minds: Neural Evidence for the Hypo-Hyper-Intentionality Hypothesis.
- Published in:
- 2015
- By:
- Publication type:
- Journal Article
Schizophrenia and Autism as Contrasting Minds: Neural Evidence for the Hypo-Hyper-Intentionality Hypothesis.
- Published in:
- Schizophrenia Bulletin, 2015, v. 41, n. 1, p. 171, doi. 10.1093/schbul/sbu124
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- Publication type:
- Article
A single-photon server with just one atom.
- Published in:
- 2007
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- Publication type:
- Letter
Vacuum-stimulated cooling of single atoms in three dimensions.
- Published in:
- Nature Physics, 2005, v. 1, n. 2, p. 122, doi. 10.1038/nphys120
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- Publication type:
- Article
Transient Retention of Photoreceptor Outer Segments in Matrigel-Embedded Retinal Organoids.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 23, p. 14893, doi. 10.3390/ijms232314893
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- Publication type:
- Article
Genetic Association Analysis of Anti-VEGF Treatment Response in Neovascular Age-Related Macular Degeneration.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 11, p. 6094, doi. 10.3390/ijms23116094
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- Publication type:
- Article
Clinical Heterogeneity in Autosomal Recessive Bestrophinopathy with Biallelic Mutations in the BEST1 Gene.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 24, p. 9353, doi. 10.3390/ijms21249353
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- Publication type:
- Article
A Circulating MicroRNA Profile in a Laser-Induced Mouse Model of Choroidal Neovascularization.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 8, p. 2689, doi. 10.3390/ijms21082689
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- Publication type:
- Article
Mutation-Dependent Pathomechanisms Determine the Phenotype in the Bestrophinopathies.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 5, p. 1597, doi. 10.3390/ijms21051597
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- Publication type:
- Article
Analytical and preparative native polyacrylamide gel electrophoresis: Investigation of the recombinant and natural major grass pollen allergen Phl p 2.
- Published in:
- Electrophoresis, 2004, v. 25, n. 1, p. 14, doi. 10.1002/elps.200305697
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- Publication type:
- Article
Sensorimotor impairment and haptic support in microgravity.
- Published in:
- Experimental Brain Research, 2021, v. 239, n. 3, p. 967, doi. 10.1007/s00221-020-06024-1
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- Publication type:
- Article
Sensorimotor performance and haptic support in simulated weightlessness.
- Published in:
- Experimental Brain Research, 2020, v. 238, n. 10, p. 2373, doi. 10.1007/s00221-020-05898-5
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- Publication type:
- Article
Expanding the spectrum of PTH1R mutations in patients with primary failure of tooth eruption.
- Published in:
- Clinical Oral Investigations, 2014, v. 18, n. 2, p. 377, doi. 10.1007/s00784-013-1014-3
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- Publication type:
- Article
Nicotine use in suicides: a case–control study
- Published in:
- European Psychiatry, 2005, v. 20, n. 2, p. 129, doi. 10.1016/j.eurpsy.2004.04.016
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- Publication type:
- Article
Risk Estimation as a Decision-Making Tool for Genetic Analysis of the Breast Cancer Susceptibility Genes.
- Published in:
- Disease Markers, 1999, v. 15, n. 1-3, p. 53, doi. 10.1155/1999/238375
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- Publication type:
- Article
Singing at 0.1 Hz as a Resonance Frequency Intervention to Reduce Cardiovascular Stress Reactivity?
- Published in:
- Frontiers in Psychiatry, 2022, v. 13, p. 1, doi. 10.3389/fpsyt.2022.876344
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- Publication type:
- Article
Detection of alcohol consumption in suicides.
- Published in:
- European Archives of Psychiatry & Clinical Neuroscience, 2005, v. 255, n. 1, p. 1, doi. 10.1007/s00406-004-0524-z
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- Publication type:
- Article
CRX controls retinal expression of the X-linked juvenile retinoschisis (RS1) gene.
- Published in:
- Nucleic Acids Research, 2008, v. 36, n. 20, p. 6523, doi. 10.1093/nar/gkn737
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- Publication type:
- Article
A brief positive psychological intervention prior to a potentially stressful task facilitates more challenge‐like cardiovascular reactivity in high trait anxious individuals.
- Published in:
- Psychophysiology, 2021, v. 58, n. 1, p. 1, doi. 10.1111/psyp.13709
- By:
- Publication type:
- Article
Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA.
- Published in:
- Nature Genetics, 2008, v. 40, n. 7, p. 892, doi. 10.1038/ng.170
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- Publication type:
- Article
Common synonymous variants in ABCA4 are protective for chloroquine induced maculopathy (toxic maculopathy)
- Published in:
- BMC Ophthalmology, 2015, v. 15, n. 1, p. 18, doi. 10.1186/s12886-015-0008-0
- By:
- Publication type:
- Article
Differentiation of murine models of 'negative ERG' by single and repetitive light stimuli.
- Published in:
- Documenta Ophthalmologica, 2016, v. 132, n. 2, p. 101, doi. 10.1007/s10633-016-9534-1
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- Publication type:
- Article
ERG variability in X-linked congenital retinoschisis patients with mutations in the RS1 gene and the diagnostic importance of fundus autofluorescence and OCT.
- Published in:
- Documenta Ophthalmologica, 2008, v. 116, n. 2, p. 97, doi. 10.1007/s10633-007-9094-5
- By:
- Publication type:
- Article
In vivo imaging reveals novel aspects of retinal disease progression in Rs1h<sup> −/Y</sup> mice but no therapeutic effect of carbonic anhydrase inhibition.
- Published in:
- Veterinary Ophthalmology, 2012, v. 15, p. 123, doi. 10.1111/j.1463-5224.2012.01039.x
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- Publication type:
- Article
QTL mapping of human retina DNA methylation identifies 87 gene-epigenome interactions in age-related macular degeneration.
- Published in:
- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-46063-8
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- Publication type:
- Article
Clinical and Genetic Factors Associated with Progression of Geographic Atrophy Lesions in Age-Related Macular Degeneration.
- Published in:
- PLoS ONE, 2015, v. 10, n. 5, p. 1, doi. 10.1371/journal.pone.0126636
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- Publication type:
- Article
A Circulating MicroRNA Profile Is Associated with Late-Stage Neovascular Age-Related Macular Degeneration.
- Published in:
- PLoS ONE, 2014, v. 9, n. 9, p. 1, doi. 10.1371/journal.pone.0107461
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- Publication type:
- Article
Structural Alterations of the Social Brain: A Comparison between Schizophrenia and Autism.
- Published in:
- PLoS ONE, 2014, v. 9, n. 9, p. 1, doi. 10.1371/journal.pone.0106539
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- Publication type:
- Article
A Novel Antibody against Human Properdin Inhibits the Alternative Complement System and Specifically Detects Properdin from Blood Samples.
- Published in:
- PLoS ONE, 2014, v. 9, n. 5, p. 1, doi. 10.1371/journal.pone.0096371
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- Publication type:
- Article
Modelling the Genetic Risk in Age-Related Macular Degeneration.
- Published in:
- PLoS ONE, 2012, v. 7, n. 5, p. 1, doi. 10.1371/journal.pone.0037979
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- Publication type:
- Article
CFH, C3 and ARMS2 Are Significant Risk Loci for Susceptibility but Not for Disease Progression of Geographic Atrophy Due to AMD.
- Published in:
- PLoS ONE, 2009, v. 4, n. 10, p. 1, doi. 10.1371/journal.pone.0007418
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- Publication type:
- Article
Systemic Complement Activation in Age-Related Macular Degeneration.
- Published in:
- PLoS ONE, 2008, v. 3, n. 7, p. 1, doi. 10.1371/journal.pone.0002593
- By:
- Publication type:
- Article
Prevalence of Pathogenic Germline Variants in Women with Non-Familial Unilateral Triple-Negative Breast Cancer.
- Published in:
- Breast Care, 2023, v. 18, n. 2, p. 106, doi. 10.1159/000528972
- By:
- Publication type:
- Article
A mega-analysis of expression quantitative trait loci in retinal tissue.
- Published in:
- PLoS Genetics, 2020, v. 16, n. 9, p. 1, doi. 10.1371/journal.pgen.1008934
- By:
- Publication type:
- Article
Insights into the loss of the Y chromosome with age in control individuals and in patients with age-related macular degeneration using genotyping microarray data.
- Published in:
- Human Genetics, 2020, v. 139, n. 3, p. 401, doi. 10.1007/s00439-019-02029-1
- By:
- Publication type:
- Article
Genomic organization of claudin-1 and its assessment in hereditary and sporadic breast cancer.
- Published in:
- Human Genetics, 2000, v. 107, n. 3, p. 249, doi. 10.1007/s004390000375
- By:
- Publication type:
- Article
Functional Connectivity as an Index of Brain Changes Following a Unicycle Intervention: A Graph-Theoretical Network Analysis.
- Published in:
- Brain Sciences (2076-3425), 2022, v. 12, n. 8, p. 1092, doi. 10.3390/brainsci12081092
- By:
- Publication type:
- Article
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
- Published in:
- Biomolecules (2218-273X), 2024, v. 14, n. 3, p. 367, doi. 10.3390/biom14030367
- By:
- Publication type:
- Article
A Close Eye on the Eagle-Eyed Visual Acuity Hypothesis of Autism.
- Published in:
- Journal of Autism & Developmental Disorders, 2012, v. 42, n. 5, p. 726, doi. 10.1007/s10803-011-1300-3
- By:
- Publication type:
- Article
Diagnostic Accuracy of the Clock Drawing Test: The Relevance of "Time Setting" in Screening for Dementia.
- Published in:
- Journal of Geriatric Psychiatry & Neurology, 2008, v. 21, n. 4, p. 250, doi. 10.1177/0891988708324939
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- Publication type:
- Article
Diagnostic accuracy of the clock drawing test: the relevance of "time setting'' in screening for dementia.
- Published in:
- 2008
- By:
- Publication type:
- journal article
Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 4, p. 445, doi. 10.1038/ejhg.2010.217
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- Publication type:
- Article
Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndrome.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 2, p. 186, doi. 10.1038/ejhg.2010.144
- By:
- Publication type:
- Article
Three novel human VMD2-like genes are members of the evolutionary highly conserved RFP-TM family.
- Published in:
- European Journal of Human Genetics, 2002, v. 10, n. 4, p. 281, doi. 10.1038/sj.ejhg.5200796
- By:
- Publication type:
- Article
Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 4, p. 286
- By:
- Publication type:
- Article