Resultados da busca - Lewis, Richard Alan

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

Obter o texto integral Obter o texto integral

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

Obter o texto integral Obter o texto integral Obter o texto integral

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

Obter o texto integral Obter o texto integral Obter o texto integral

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

Obter o texto integral Obter o texto integral

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

Obter o texto integral Obter o texto integral

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

Obter o texto integral Obter o texto integral

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

Obter o texto integral Obter o texto integral Obter o texto integral

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

Obter o texto integral Obter o texto integral Obter o texto integral

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

Obter o texto integral Obter o texto integral Obter o texto integral

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

Obter o texto integral Obter o texto integral Obter o texto integral

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

Obter o texto integral Obter o texto integral Obter o texto integral

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

Obter o texto integral Obter o texto integral Obter o texto integral

BBS4 Is a Minor Contributor to Bardet-Biedl Syndrome and May Also Participate in Triallelic Inheritance por 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.

Obter o texto integral Obter o texto integral

Effect of host genetics on CMV retinitis occurrence in patients with AIDS por 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.

Obter o texto integral Obter o texto integral Obter o texto integral

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 por 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.

Obter o texto integral Obter o texto integral Obter o texto integral

Late-Onset Autosomal Dominant Macular Dystrophy with Choroidal Neovascularization and Nonexudative Maculopathy Associated with Mutation in the RDS Gene por 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

Obter o texto integral Obter o texto integral

Genetic Interaction of BBS1 Mutations with Alleles at Other BBS Loci Can Result in Non-Mendelian Bardet-Biedl Syndrome por 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

Obter o texto integral Obter o texto integral

Mutations in SPATA7 Cause Leber Congenital Amaurosis and Juvenile Retinitis Pigmentosa por 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

Obter o texto integral Obter o texto integral Obter o texto integral

Generalized Metabolic Bone Disease in Neurofibromatosis Type I por 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

Obter o texto integral Obter o texto integral Obter o texto integral

Exome capture sequencing identifies a novel mutation in BBS4 por 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

Obter o texto integral Obter o texto integral