Risultati della ricerca - Robyn V. Jamieson

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  1. 1
    Domain disruption and mutation of the bZIP transcription factor, MAF,associated with cataract, ocular anterior segment dysgenesis and coloboma

    Domain disruption and mutation of the bZIP transcription factor, MAF,associated with cataract, ocular anterior segment dysgenesis and coloboma di Robyn V. Jamieson

    Pubblicazione 2002
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  2. 2
    Masquerade macular exudation in Mallatia Leventinese

    Masquerade macular exudation in Mallatia Leventinese di Shaun Y.P. Ewe, Robyn V. Jamieson, Andrew Chang

    Pubblicazione 2016
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  3. 3
    Neurofibromatosis Type 1: Review and Update on Emerging Therapies

    Neurofibromatosis Type 1: Review and Update on Emerging Therapies di Tanya Karaconji, Eline Whist, Robyn V. Jamieson, Maree Flaherty, John Grigg

    Pubblicazione 2018
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  4. 4
    What is the power of a genomic multidisciplinary team approach? A systematic review of implementation and sustainability

    What is the power of a genomic multidisciplinary team approach? A systematic review of implementation and sustainability di Alan Ma, Rosie O’Shea, Laura Wedd, Claire Wong, Robyn V. Jamieson, Nicole Rankin

    Pubblicazione 2024
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  5. 5
    Secondary glaucoma after paediatric cataract surgery

    Secondary glaucoma after paediatric cataract surgery di Brighu Swamy, F. A. Billson, Francisco J. Plaza Martín, Craig Donaldson, Stephen Hing, Robyn V. Jamieson, John Grigg, James E. Smith

    Pubblicazione 2007
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  6. 6
    Hardy-Rand-Rittler colour vision testing in cone and cone-rod dystrophies: correlation with structural and functional outcome measures

    Hardy-Rand-Rittler colour vision testing in cone and cone-rod dystrophies: correlation with structural and functional outcome measures di B. Tharmarajah, Elisa E. Cornish, Jonathan V. Nguyen, Elizabeth H Barnes, Kate E. Leahy, Anagha Vaze, Robyn V. Jamieson, John Grigg

    Pubblicazione 2025
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  7. 7
    Comprehensive characterization of fetal and mature retinal cell identity to assess the fidelity of retinal organoids

    Comprehensive characterization of fetal and mature retinal cell identity to assess the fidelity of retinal organoids di Hani Jieun Kim, Michelle O’Hara-Wright, Daniel Kim, To Ha Loi, Benjamin Y. Lim, Robyn V. Jamieson, Anai Gonzalez-Cordero, Pengyi Yang

    Pubblicazione 2023
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  8. 8
    Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1

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

    Pubblicazione 2013
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  9. 9
    <i>Dkk1</i>and<i>Wnt3</i>interact to control head morphogenesis in the mouse

    <i>Dkk1</i>and<i>Wnt3</i>interact to control head morphogenesis in the mouse di Samara E. Lewis, Poh‐Lynn Khoo, Reginald Young, Kirsten A. Steiner, Chris Wilcock, Mahua Mukhopadhyay, Heiner Westphal, Robyn V. Jamieson, Lorraine Robb, Patrick Tam

    Pubblicazione 2008
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  10. 10
    Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next‐Generation Sequencing

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

    Pubblicazione 2015
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  11. 11
    An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation

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

    Pubblicazione 2012
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  12. 12
    Dismantling barriers to research and clinical care for individuals with a vision impairment

    Dismantling barriers to research and clinical care for individuals with a vision impairment di Eden G. Robertson, Kate Hetherington, Meredith Prain, James Hall, Lydia Boyd, Rosemary Boyd OAM, Emily L. C. Shepard, Hollie Feller, Sally Karandrews, Fleur O’Hare, Kohji Yamamoto, Matthew P. Simunovic, Robyn V. Jamieson, Alan Ma, Lauren N. Ayton, Anai Gonzalez‐Cordero

    Pubblicazione 2025
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  13. 13
    Mutations in<i>SIPA1L3</i>cause eye defects through disruption of cell polarity and cytoskeleton organization

    Mutations in<i>SIPA1L3</i>cause eye defects through disruption of cell polarity and cytoskeleton organization di Rebecca Greenlees, Marija Mihelec, Saira Yousoof, Daniel Speidel, Selwin K. Wu, Silke Rinkwitz, Ivan Prokudin, Rahat Perveen, Anson Cheng, Alan Ma, Benjamin M. Nash, Rachel Gillespie, David A.F. Loebel, Jill Clayton‐Smith, I. Christopher Lloyd, John Grigg, Patrick Tam, Alpha S. Yap, Thomas Becker, Graeme Black, Elena V. Semina, Robyn V. Jamieson

    Pubblicazione 2015
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  14. 14
    Revealing hidden genetic diagnoses in the ocular anterior segment disorders

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

    Pubblicazione 2020
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  15. 15
    Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”)

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

    Pubblicazione 2020
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  16. 16
    Detection of Chromosomal Breakpoints in Patients with Developmental Delay and Speech Disorders

    Detection of Chromosomal Breakpoints in Patients with Developmental Delay and Speech Disorders di Kagistia Hana Utami, Axel M. Hillmer, Irène Aksoy, Elaine Guo Yan Chew, Audrey S.M. Teo, Zhenshui Zhang, Charlie W. H. Lee, Pauline J. Chen, Chan Chee Seng, Pramila Ariyaratne, Sigrid Rouam, Lim Seong Soo, Saira Yousoof, Ivan Prokudin, Gregory B. Peters, Felicity Collins, Meredith Wilson, Alyson Kakakios, Georges Haddad, Arnaud Menuet, Olivier Perche, S K Tay, Wing‐Kin Sung, Xiaoan Ruan, Yijun Ruan, Edison T. Liu, Sylvain Briault, Robyn V. Jamieson, Sonia Dávila, Valère Cacheux

    Pubblicazione 2014
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  17. 17
    ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder

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

    Pubblicazione 2019
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  18. 18
    Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients

    Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients di Rachael C. Heath Jeffery, Jennifer A Thompson, Johnny Lo, Enid S. Chelva, Sean Armstrong, Jose S. Pulido, Rebecca Procopio, Andrea L. Vincent, Lorenzo Bianco, Maurízio Battaglia Parodi, Lucia Ziccardi, Giulio Antonelli, Lucilla Barbano, João P. Marques, Sara Geada, Ana L. Carvalho, Wei C. Tang, Choi M. Chan, Camiel J.F. Boon, Jonathan Hensman, Ta‐Ching Chen, Chien-Yu Lin, Pei-Lung Chen, Ajoy Vincent, Anupreet Tumber, Elise Heon, John Grigg, Robyn V. Jamieson, Elisa E. Cornish, Benjamin M. Nash, Shyamanga Borooah, Lauren N. Ayton, Alexis Ceecee Britten-Jones, Thomas L. Edwards, Jonathan B. Ruddle, Abhishek Sharma, Rowan GB Porter, Tina M. Lamey, Terri L. McLaren, Samuel McLenachan, Danial Roshandel, Fred K. Chen

    Pubblicazione 2024
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  19. 19
    Human TUBB3 Mutations Perturb Microtubule Dynamics, Kinesin Interactions, and Axon Guidance

    Human TUBB3 Mutations Perturb Microtubule Dynamics, Kinesin Interactions, and Axon Guidance di Max A. Tischfield, Hagit Baris, Chen Wu, Guenther Rudolph, Lionel Van Maldergem, Wei He, Wai‐Man Chan, Caroline Andrews, Joseph L. Demer, Richard L. Robertson, David A. Mackey, Jonathan B. Ruddle, Thomas D. Bird, Irène Gottlob, Christina Pieh, Elias I. Traboulsi, Scott L. Pomeroy, David G. Hunter, Janet S. Soul, Anna Newlin, Louise J. Sabol, Edward J. Doherty, Clara E. de Uzcátegui, Nicolas Uzcategui, Mary Louise Z. Collins, Emin Cumhur Şener, Bettina Wabbels, Heide Hellebrand, Thomas Meitinger, Teresa de Berardinis, Adriano Magli, Costantino Schiavi, Marco Pastore-Trossello, Feray Koc, Agnes Wong, Alex V. Levin, Michael T. Geraghty, Maria Descartes, Maree Flaherty, Robyn V. Jamieson, Hans Ulrik Møller, I. Meuthen, David F. Callen, Janet Kerwin, Susan Lindsay, Alfons Meindl, Mohan L. Gupta, David Pellman, Elizabeth C. Engle

    Pubblicazione 2010
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