نتائج البحث - Anson Cheng
- يعرض 1 - 4 نتائج من 4
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1
Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next‐Generation Sequencing حسب 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
منشور في 2015Artigo -
2
Mutations in<i>SIPA1L3</i>cause eye defects through disruption of cell polarity and cytoskeleton organization حسب 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
منشور في 2015Artigo -
3
Revealing hidden genetic diagnoses in the ocular anterior segment disorders حسب 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
منشور في 2020Artigo -
4
ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder حسب 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
منشور في 2019Artigo
أدوات البحث:
موضوعات ذات صلة
Biology
Gene
Genetics
Phenotype
Genetic heterogeneity
Mutation
PAX6
Transcription factor
Adherens junction
Bioinformatics
Cadherin
Candidate gene
Cell
Cell biology
Cell polarity
Chromosome
Ciliogenesis
Cilium
Copy-number variation
Cytoskeleton
Dysgenesis
Exome
Exome sequencing
Eye development
Genetic analysis
Genetic counseling
Genome
Medicine
Microphthalmia
Missense mutation