Ngā hua rapu kaituhi :: APM

1

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

I whakaputaina 2002

Whiwhi kuputuhi katoa
Artigo

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2

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

I whakaputaina 2016

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Carta

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3

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

I whakaputaina 2018

Whiwhi kuputuhi katoa
Revisão

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4

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

I whakaputaina 2024

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Revisão

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5

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

I whakaputaina 2007

Whiwhi kuputuhi katoa
Artigo

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6

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

I whakaputaina 2025

Whiwhi kuputuhi katoa
Artigo

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7

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

I whakaputaina 2023

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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8

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

I whakaputaina 2013

Whiwhi kuputuhi katoa
Artigo

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9

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

I whakaputaina 2008

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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10

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

I whakaputaina 2015

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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11

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

I whakaputaina 2012

Whiwhi kuputuhi katoa
Artigo

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12

Dismantling barriers to research and clinical care for individuals with a vision impairment mā 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

I whakaputaina 2025

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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13

Mutations in<i>SIPA1L3</i>cause eye defects through disruption of cell polarity and cytoskeleton organization mā 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

I whakaputaina 2015

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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14

Revealing hidden genetic diagnoses in the ocular anterior segment disorders mā 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

I whakaputaina 2020

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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15

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

I whakaputaina 2020

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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16

Detection of Chromosomal Breakpoints in Patients with Developmental Delay and Speech Disorders mā 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

I whakaputaina 2014

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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17

ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder mā 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

I whakaputaina 2019

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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18

Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients mā 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

I whakaputaina 2024

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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19

Human TUBB3 Mutations Perturb Microtubule Dynamics, Kinesin Interactions, and Axon Guidance mā 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

I whakaputaina 2010

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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