Sökresultat - Jamieson, Robyn V

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

Hämta fulltext Hämta fulltext Hämta fulltext

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

Hämta fulltext Hämta fulltext Hämta fulltext

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

Hämta fulltext Hämta fulltext Hämta fulltext

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

Hämta fulltext Hämta fulltext Hämta fulltext

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

Hämta fulltext Hämta fulltext Hämta fulltext

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

Hämta fulltext Hämta fulltext Hämta fulltext

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

Hämta fulltext Hämta fulltext

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

Hämta fulltext Hämta fulltext Hämta fulltext

Human iPSC-Derived Retinal Organoids and Retinal Pigment Epithelium for Novel Intronic RPGR Variant Assessment for Therapy Suitability av 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.

Hämta fulltext Hämta fulltext Hämta fulltext

Novel SOX2 partner-factor domain mutation in a four-generation family av 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

Hämta fulltext Hämta fulltext Hämta fulltext

Evaluation for Retinal Therapy for RPE65 Variation Assessed in hiPSC Retinal Pigment Epithelial Cells av 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.

Hämta fulltext Hämta fulltext Hämta fulltext

Heterozygous COL9A3 variants cause severe peripheral vitreoretinal degeneration and retinal detachment av 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.

Hämta fulltext Hämta fulltext Hämta fulltext

Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next‐Generation Sequencing av 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.

Hämta fulltext Hämta fulltext Hämta fulltext

An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation av 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.

Hämta fulltext Hämta fulltext Hämta fulltext

Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes av 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

Hämta fulltext Hämta fulltext Hämta fulltext

Whole Genome Sequencing, Focused Assays and Functional Studies Increasing Understanding in Cryptic Inherited Retinal Dystrophies av 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.

Hämta fulltext Hämta fulltext Hämta fulltext

Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”) av 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.

Hämta fulltext Hämta fulltext Hämta fulltext

Revealing hidden genetic diagnoses in the ocular anterior segment disorders av Ma, Alan, Yousoof, Saira, Grigg, John R., Flaherty, Maree, Minoche, Andre E., Cowley, Mark J., Nash, Benjamin M., Ho, Gladys, Gayagay, Thet, Lai, Tiffany, Farnsworth, Elizabeth, Hackett, Emma L., Fisk, Katrina, Wong, Karen, Holman, Katherine J., Jenkins, Gemma, Cheng, Anson, Martin, Frank, Karaconji, Tanya, Elder, James E., Enriquez, Annabelle, Wilson, Meredith, Amor, David J., Stutterd, Chloe A., Kamien, Benjamin, Nelson, John, Dinger, Marcel E., Bennetts, Bruce, Jamieson, Robyn V.

Hämta fulltext Hämta fulltext Hämta fulltext

Detection of Chromosomal Breakpoints in Patients with Developmental Delay and Speech Disorders av Utami, Kagistia H., Hillmer, Axel M., Aksoy, Irene, Chew, Elaine G. Y., Teo, Audrey S. M., Zhang, Zhenshui, Lee, Charlie W. H., Chen, Pauline J., Seng, Chan Chee, Ariyaratne, Pramila N., Rouam, Sigrid L., Soo, Lim Seong, Yousoof, Saira, Prokudin, Ivan, Peters, Gregory, Collins, Felicity, Wilson, Meredith, Kakakios, Alyson, Haddad, Georges, Menuet, Arnaud, Perche, Olivier, Tay, Stacey Kiat Hong, Sung, Ken W. K., Ruan, Xiaoan, Ruan, Yijun, Liu, Edison T., Briault, Sylvain, Jamieson, Robyn V., Davila, Sonia, Cacheux, Valere

Hämta fulltext Hämta fulltext Hämta fulltext

ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder av Williams, Lloyd B., Javed, Asif, Sabri, Amin, Morgan, Denise J., Huff, Chad D., Grigg, John R., Heng, Xiu Ting, Khng, Alexis J., Hollink, Iris H. I. M., Morrison, Margaux A., Owen, Leah A., Anderson, Katherine, Kinard, Krista, Greenlees, Rebecca, Novacic, Danica, Nida Sen, H., Zein, Wadih M., Rodgers, George M., Vitale, Albert T., Haider, Neena B., Hillmer, Axel M., Ng, Pauline C., Shankaracharya, Cheng, Anson, Zheng, Linda, Gillies, Mark C., van Slegtenhorst, Marjon, van Hagen, P. Martin, Missotten, Tom O. A. R., Farley, Gary L., Polo, Michael, Malatack, James, Curtin, Julie, Martin, Frank, Arbuckle, Susan, Alexander, Stephen I., Chircop, Megan, Davila, Sonia, Digre, Kathleen B., Jamieson, Robyn V., DeAngelis, Margaret M.

Hämta fulltext Hämta fulltext Hämta fulltext