Αποτελέσματα αναζήτησης - Jana Zernant
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Correlations Among Near-Infrared and Short-Wavelength Autofluorescence and Spectral-Domain Optical Coherence Tomography in Recessive Stargardt Disease από Tobias Duncker, Marcela Marsiglia, Winston Lee, Jana Zernant, Stephen H. Tsang, Rando Allikmets, Vivienne C. Greenstein, Janet R. Sparrow
Έκδοση 2014Artigo -
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Quantitative Fundus Autofluorescence and Optical Coherence Tomography in<i>PRPH2/RDS</i>- and<i>ABCA4</i>-Associated Disease Exhibiting Phenotypic Overlap από Tobias Duncker, Stephen H. Tsang, Russell L. Woods, Winston Lee, Jana Zernant, Rando Allikmets, François C. Delori, Janet R. Sparrow
Έκδοση 2015Artigo -
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Near-Infrared Autofluorescence: Its Relationship to Short-Wavelength Autofluorescence and Optical Coherence Tomography in Recessive Stargardt Disease από Vivienne C. Greenstein, Ari D. Schuman, Winston Lee, Tobias Duncker, Jana Zernant, Rando Allikmets, Donald C. Hood, Janet R. Sparrow
Έκδοση 2015Artigo -
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Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration από Jana Zernant, Winston Lee, Frederick T. Collison, Gerald A. Fishman, Yuri V. Sergeev, Kaspar Schuerch, Janet R. Sparrow, Stephen H. Tsang, Rando Allikmets
Έκδοση 2017Artigo -
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Extremely hypomorphic and severe deep intronic variants in the <i>ABCA4</i> locus result in varying Stargardt disease phenotypes από Jana Zernant, Winston Lee, Takayuki Nagasaki, Frederick T. Collison, Gerald A. Fishman, Mette Bertelsen, Thomas Rosenberg, Peter Gouras, Stephen H. Tsang, Rando Allikmets
Έκδοση 2018Artigo -
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<i>Cis</i>-acting modifiers in the <i>ABCA4</i> locus contribute to the penetrance of the major disease-causing variant in Stargardt disease από Winston Lee, Jana Zernant, Takayuki Nagasaki, Laurie L. Molday, Pei-Yin Su, Gerald A. Fishman, Stephen H. Tsang, Robert S. Molday, Rando Allikmets
Έκδοση 2021Artigo -
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<i>ABCA4</i>Gene Screening by Next-Generation Sequencing in a British Cohort από Kaoru Fujinami, Jana Zernant, Ravinder Chana, Genevieve Wright, Kazushige Tsunoda, Yoko Ozawa, Kazuo Tsubota, Andrew R. Webster, Anthony T. Moore, Rando Allikmets, Michel Michaelides
Έκδοση 2013Artigo -
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Clinical and Molecular Characteristics of Childhood-Onset Stargardt Disease από Kaoru Fujinami, Jana Zernant, Ravinder Chana, Genevieve Wright, Kazushige Tsunoda, Yoko Ozawa, Kazuo Tsubota, Anthony G. Robson, Graham E. Holder, Rando Allikmets, Michel Michaelides, Anthony T. Moore
Έκδοση 2014Artigo -
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Genetic and Clinical Analysis of <i> <scp>ABCA</scp> 4 </i> ‐Associated Disease in African American Patients από Jana Zernant, Frederick T. Collison, Winston Lee, Gerald A. Fishman, Kalev Nõupuu, Bo Yuan, Carolyn Cai, James R. Lupski, Lawrence A. Yannuzzi, Stephen H. Tsang, Rando Allikmets
Έκδοση 2014Artigo -
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Quantitative Fundus Autofluorescence in Recessive Stargardt Disease από Tomas R. Burke, Tobias Duncker, Russell L. Woods, Jonathan P. Greenberg, Jana Zernant, Stephen H. Tsang, R. Theodore Smith, Rando Allikmets, Janet R. Sparrow, François C. Delori
Έκδοση 2014Artigo -
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Correction of the disease phenotype in the mouse model of Stargardt disease by lentiviral gene therapy από Jiong Kong, S.-R. Kim, K. Binley, Illar Pata, Kentaro Doi, Jaana Männik, Jana Zernant-Rajang, O. Kan, Sharifah Iqball, Simon Naylor, Janet R. Sparrow, Peter Gouras, Rando Allikmets
Έκδοση 2008Artigo -
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Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease από Sílvia Albert, Alejandro Garanto, Riccardo Sangermano, Mubeen Khan, Nathalie M. Bax, Carel B. Hoyng, Jana Zernant, Winston Lee, Rando Allikmets, Rob W.J. Collin, Frans P.M. Cremers
Έκδοση 2018Artigo
Εργαλεία αναζήτησης:
Σχετικά θέματα
Biology
Gene
Genetics
Phenotype
ABCA4
Stargardt disease
Medicine
Ophthalmology
Allele
Retinal
Fundus (uterus)
Retinal pigment epithelium
Compound heterozygosity
Mutation
Autofluorescence
Fluorescence
Locus (genetics)
Optics
Pathology
Physics
Genotype
Haplotype
Optical coherence tomography
Computational biology
Macular degeneration
Missense mutation
Chemistry
Coding region
Complement factor B
Complement system