Risultati della ricerca - Jamieson, Robyn

Congenital Fibrosis of the Extraocular Muscles Type 1, Distinctive Conjunctival Changes and Intrapapillary Disc Colobomata di Flaherty, Maree P, Balachandran, Chandra, Jamieson, Robyn, Engle, Elizabeth C

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Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring di Stark, Zornitza, Storen, Rebecca, Bennetts, Bruce, Savarirayan, Ravi, Jamieson, Robyn V

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The electroretinogram in the genomics era: outer retinal disorders di Cornish, Elisa E., Vaze, Anagha, Jamieson, Robyn V., Grigg, John R.

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Management of intraoperative tilting of the scleral‐fixated intraocular lens in classical aniridia di Arvind, Hemamalini, Hunyor, Alex, McClellan, Kathy, Billson, Francis, Grigg, John, Jamieson, Robyn

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NMNAT1 variants cause cone and cone-rod dystrophy di Nash, Benjamin M., Symes, Richard, Goel, Himanshu, Dinger, Marcel E., Bennetts, Bruce, Grigg, John R., Jamieson, Robyn V.

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Identification of missense MAB21L1 variants in microphthalmia and aniridia di Seese, Sarah E., Reis, Linda M., Deml, Brett, Griffith, Christopher, Reich, Adi, Jamieson, Robyn V., Semina, Elena V.

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Outcome measures in juvenile X-linked retinoschisis: A systematic review di Grigg, John R., Hooper, Claire Y., Fraser, Clare L., Cornish, Elisa E., McCluskey, Peter J., Jamieson, Robyn V.

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Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1 di Prokudin, Ivan, Simons, Cas, Grigg, John R, Storen, Rebecca, Kumar, Vikrant, Phua, Zai Y, Smith, James, Flaherty, Maree, Davila, Sonia, Jamieson, Robyn V

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Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform di Sharma, Shiwani, Burdon, Kathryn P., Dave, Alpana, Jamieson, Robyn V., Yaron, Yuval, Billson, Frank, Van Maldergem, Lionel, Lorenz, Birgit, Gécz, Jozef, Craig, Jamie E.

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Assessing Residual Cone Function in Retinitis Pigmentosa Patients di Arsiwalla, Tasneem A., Cornish, Elisa E., Nguyen, Phuc Vuong, Korsakova, Maria, Ali, Haipha, Saakova, Nonna, Fraser, Clare L., Jamieson, Robyn V., Grigg, John R.

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Perspectives of people with inherited retinal diseases on ocular gene therapy in Australia: protocol for a national survey di Mack, Heather G, Chen, Fred K, Grigg, John, Jamieson, Robyn, De Roach, John, O’Hare, Fleur, Britten-Jones, Alexis Ceecee, McGuinness, Myra, Tindill, Nicole, Ayton, Lauren

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Human iPSC-Derived Retinal Organoids and Retinal Pigment Epithelium for Novel Intronic RPGR Variant Assessment for Therapy Suitability di Chahine Karam, Fidelle, Loi, To Ha, Ma, Alan, Nash, Benjamin M., Grigg, John R., Parekh, Darshan, Riley, Lisa G., Farnsworth, Elizabeth, Bennetts, Bruce, Gonzalez-Cordero, Anai, Jamieson, Robyn V.

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Novel SOX2 partner-factor domain mutation in a four-generation family di Mihelec, Marija, Abraham, Peter, Gibson, Kate, Krowka, Renata, Susman, Rachel, Storen, Rebecca, Chen, Yongjuan, Donald, Jenny, Tam, Patrick PL, Grigg, John R, Flaherty, Maree, Gole, Glen A, Jamieson, Robyn V

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Evaluation for Retinal Therapy for RPE65 Variation Assessed in hiPSC Retinal Pigment Epithelial Cells di Nash, Benjamin M., Loi, To Ha, Fernando, Milan, Sabri, Amin, Robinson, James, Cheng, Anson, Eamegdool, Steven S., Farnsworth, Elizabeth, Bennetts, Bruce, Grigg, John R., Chung, Seo-Kyung, Gonzalez-Cordero, Anai, Jamieson, Robyn V.

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Heterozygous COL9A3 variants cause severe peripheral vitreoretinal degeneration and retinal detachment di Nash, Benjamin M., Watson, Christopher J. G., Hughes, Edward, Hou, Alec L., Loi, To Ha, Bennetts, Bruce, Jelovic, Diana, Polkinghorne, Philip J., Gorbatov, Mark, Grigg, John R., Vincent, Andrea L., Jamieson, Robyn V.

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Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next‐Generation Sequencing di Ma, Alan S., Grigg, John R., Ho, Gladys, Prokudin, Ivan, Farnsworth, Elizabeth, Holman, Katherine, Cheng, Anson, Billson, Frank A., Martin, Frank, Fraser, Clare, Mowat, David, Smith, James, Christodoulou, John, Flaherty, Maree, Bennetts, Bruce, Jamieson, Robyn V.

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An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation di Cederquist, Gustav Y., Luchniak, Anna, Tischfield, Max A., Peeva, Maya, Song, Yuyu, Menezes, Manoj P., Chan, Wai-Man, Andrews, Caroline, Chew, Sheena, Jamieson, Robyn V., Gomes, Lavier, Flaherty, Maree, Grant, Patricia Ellen, Gupta, Mohan L., Engle, Elizabeth C.

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Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes di Léger, Sandy, Balguerie, Xavier, Goldenberg, Alice, Drouin-Garraud, Valérie, Cabot, Annick, Amstutz-Montadert, Isabelle, Young, Paul, Joly, Pascal, Bodereau, Virginie, Holder-Espinasse, Muriel, Jamieson, Robyn V, Krause, Amanda, Chen, Hongsheng, Baumann, Clarisse, Nunes, Luis, Dollfus, Hélène, Goossens, Michel, Pingault, Véronique

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Whole Genome Sequencing, Focused Assays and Functional Studies Increasing Understanding in Cryptic Inherited Retinal Dystrophies di Nash, Benjamin M., Ma, Alan, Ho, Gladys, Farnsworth, Elizabeth, Minoche, Andre E., Cowley, Mark J., Barnett, Christopher, Smith, Janine M., Loi, To Ha, Wong, Karen, St Heaps, Luke, Wright, Dale, Dinger, Marcel E., Bennetts, Bruce, Grigg, John R., Jamieson, Robyn V.

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Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”) di Kirk, Edwin P., Ong, Royston, Boggs, Kirsten, Hardy, Tristan, Righetti, Sarah, Kamien, Ben, Roscioli, Tony, Amor, David J., Bakshi, Madhura, Chung, Clara W. T., Colley, Alison, Jamieson, Robyn V., Liebelt, Jan, Ma, Alan, Pachter, Nicholas, Rajagopalan, Sulekha, Ravine, Anja, Wilson, Meredith, Caruana, Jade, Casella, Rachael, Davis, Mark, Edwards, Samantha, Archibald, Alison, McGaughran, Julie, Newson, Ainsley J., Laing, Nigel G., Delatycki, Martin B.

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