Søgeresultater - Lewis, Richard Alan

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

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

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Neuroimaging Aspects of Aicardi Syndrome af 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) af 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 af 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 af 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 af 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 af 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 af 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 af 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 af 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 af 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 af 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 af 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 af 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 af 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 af 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 af 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 af 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 af 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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