Výsledky vyhledávání - Lewis, Richard Alan

Cavernous haemangioma of the retina and optic disc. A report of three cases and a review of the literature Autor Lewis, Richard Alan, Cohen, M. Harry, Wise, George N.

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Novel Mutations in Two Saudi Patients with Congenital Retinal Dystrophy Autor Safieh, Leen Abu, Al-Otaibi, Humoud M., Lewis, Richard Alan, Kozak, Igor

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Neuroimaging Aspects of Aicardi Syndrome Autor Hopkins, Bobbi, Sutton, V. Reid, Lewis, Richard Alan, Van den Veyver, Ignatia, Clark, Gary

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Atypical Forms of Incontinentia Pigmenti in Male Individuals Result from Mutations of a Cytosine Tract in Exon 10 of NEMO (IKK-γ) Autor Aradhya, Swaroop, Courtois, Gilles, Rajkovic, Aleks, Lewis, Richard Alan, Levy, Moise, Israël, Alain, Nelson, David L.

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Identification of three novel NHS mutations in families with Nance-Horan syndrome Autor Huang, Kristen M., Wu, Junhua, Brooks, Simon P., Hardcastle, Alison J., Lewis, Richard Alan, Stambolian, Dwight

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Identification of a Novel Bardet-Biedl Syndrome Protein, BBS7, That Shares Structural Features with BBS1 and BBS2 Autor Badano, José L., Ansley, Stephen J., Leitch, Carmen C., Lewis, Richard Alan, Lupski, James R., Katsanis, Nicholas

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Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis Autor Wiszniewski, Wojciech, Lewis, Richard Alan, Stockton, David W., Peng, Jianlan, Mardon, Graeme, Chen, Rui, Lupski, James R.

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Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology Autor Craigen, William J, Graham, Brett H, Wong, Lee-Jun, Scaglia, Fernando, Lewis, Richard Alan, Bonnen, Penelope E

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Mutation Survey of Known LCA Genes and Loci in the Saudi Arabian Population Autor Li, Yumei, Wang, Hui, Peng, Jianlan, Gibbs, Richard A., Lewis, Richard Alan, Lupski, James R., Mardon, Graeme, Chen, Rui

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A Genome-Wide Screen for Copy Number Alterations in Aicardi Syndrome Autor Wang, Xiaoling, Sutton, V. Reid, Eble, Tanya, Lewis, Richard Alan, Gunaratne, Preethi, Patel, Ankita, Van den Veyver, Ignatia B.

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Mitochondrial Haplogroups Are Associated With Risk of Neuroretinal Disorder in HIV-Positive Patients Autor Hendrickson, Sher L., Jabs, Douglas A., Van Natta, Mark, Lewis, Richard Alan, Wallace, Douglas C., O’Brien, Stephen J.

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Risk of Cataract in Persons with Cytomegalovirus Retinitis and the Acquired Immune Deficiency Syndrome Autor Kempen, John H., Sugar, Elizabeth A., Lyon, Alice T., Lewis, Richard Alan, Jabs, Douglas A., Heinemann, Murk-Hein, Dunn, James P.

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BBS4 Is a Minor Contributor to Bardet-Biedl Syndrome and May Also Participate in Triallelic Inheritance Autor Katsanis, Nicholas, Eichers, Erica R., Ansley, Stephen J., Lewis, Richard Alan, Kayserili, Hülya, Hoskins, Bethan E., Scambler, Peter J., Beales, Philip L., Lupski, James R.

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Effect of host genetics on CMV retinitis occurrence in patients with AIDS Autor Sezgin, Efe, Jabs, Douglas A., Hendrickson, Sher L., Van Natta, Mark, Zdanov, Alexander, Lewis, Richard Alan, Smith, Michael W., Troyer, Jennifer L., O’ Brien, Stephen J.

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Mutations in the X-Linked Retinitis Pigmentosa Genes RPGR and RP2 Found in 8.5% of Families with a Provisional Diagnosis of Autosomal Dominant Retinitis Pigmentosa Autor Churchill, Jennifer D., Bowne, Sara J., Sullivan, Lori S., Lewis, Richard Alan, Wheaton, Dianna K., Birch, David G., Branham, Kari E., Heckenlively, John R., Daiger, Stephen P.

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Late-Onset Autosomal Dominant Macular Dystrophy with Choroidal Neovascularization and Nonexudative Maculopathy Associated with Mutation in the RDS Gene Autor Khani, Shahrokh C., Karoukis, Athanasios J., Young, Joyce E., Ambasudhan, Rajesh, Burch, Tracy, Stockton, Richard, Lewis, Richard Alan, Sullivan, Lori S., Daiger, Stephen P., Reichel, Elias, Ayyagari, Radha

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Genetic Interaction of BBS1 Mutations with Alleles at Other BBS Loci Can Result in Non-Mendelian Bardet-Biedl Syndrome Autor Beales, Philip L., Badano, Jose L., Ross, Alison J., Ansley, Stephen J., Hoskins, Bethan E., Kirsten, Brigitta, Mein, Charles A., Froguel, Philippe, Scambler, Peter J., Lewis, Richard Alan, Lupski, James R., Katsanis, Nicholas

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Mutations in SPATA7 Cause Leber Congenital Amaurosis and Juvenile Retinitis Pigmentosa Autor Wang, Hui, den Hollander, Anneke I., Moayedi, Yalda, Abulimiti, Abuduaini, Li, Yumei, Collin, Rob W.J., Hoyng, Carel B., Lopez, Irma, Bray, Molly, Lewis, Richard Alan, Lupski, James R., Mardon, Graeme, Koenekoop, Robert K., Chen, Rui

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Generalized Metabolic Bone Disease in Neurofibromatosis Type I Autor Brunetti-Pierri, Nicola, Doty, Stephen B., Hicks, John, Phan, Kelly, Mendoza-Londono, Roberto, Blazo, Maria, Tran, Alyssa, Carter, Susan, Lewis, Richard Alan, Plon, Sharon E., Phillips, William A., Smith, E. O’Brian, Ellis, Kenneth J., Lee, Brendan

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Exome capture sequencing identifies a novel mutation in BBS4 Autor Wang, Hui, Chen, Xianfeng, Dudinsky, Lynn, Patenia, Claire, Chen, Yiyun, Li, Yumei, Wei, Yue, Abboud, Emad B., Al-Rajhi, Ali A., Lewis, Richard Alan, Lupski, James R., Mardon, Graeme, Gibbs, Richard A., Perkins, Brian D., Chen, Rui

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