Hypotrichosis and juvenile macular dystrophy caused by CDH3 mutation: A candidate disease for retinal gene therapy

por Singh, Mandeep S., Broadgate, Suzanne, Mathur, Ranjana, Holt, Richard, Halford, Stephanie, MacLaren, Robert E.
Publicado 2016

Intraretinal Microvascular Abnormalities and Venous Beading Have Different Genetic Profiles in Caucasian Patients with Non-Proliferative Diabetic Retinopathy

por Pearce, Elizabeth, Sivaprasad, Sobha, Broadgate, Suzanne, Kiire, Christine, Downes, Susan M., Halford, Stephanie, Chong, Victor
Publicado 2023

Advancing sustainability science for the SDGs

por Smith, Mark Stafford, Cook, Christina, Sokona, Youba, Elmqvist, Thomas, Fukushi, Kensuke, Broadgate, Wendy, Jarzebski, Marcin Pawel
Publicado 2018

Novel Pathogenic Sequence Variants in NR2E3 and Clinical Findings in Three Patients

por Al-khuzaei, Saoud, Broadgate, Suzanne, Halford, Stephanie, Jolly, Jasleen K., Shanks, Morag, Clouston, Penny, Downes, Susan M.
Publicado 2020

An Overview of the Genetics of ABCA4 Retinopathies, an Evolving Story

por Al-Khuzaei, Saoud, Broadgate, Suzanne, Foster, Charlotte R., Shah, Mital, Yu, Jing, Downes, Susan M., Halford, Stephanie
Publicado 2021

The role of multimodal imaging and vision function testing in ABCA4-related retinopathies and their relevance to future therapeutic interventions

por Al-Khuzaei, Saoud, Shah, Mital, Foster, Charlotte R., Yu, Jing, Broadgate, Suzanne, Halford, Stephanie, Downes, Susan M.
Publicado 2021

New variant and expression studies provide further insight into the genotype-phenotype correlation in YAP1-related developmental eye disorders

por Holt, R., Ceroni, F., Bax, D. A., Broadgate, S., Diaz, D. Gold, Santos, C., Gerrelli, D., Ragge, N. K.
Publicado 2017

Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy – a case report

por Al-Khuzaei, Saoud, Hudspith, Karl A. Z., Broadgate, Suzanne, Shanks, Morag E., Clouston, Penny, Németh, Andrea H., Halford, Stephanie, Downes, Susan M.
Publicado 2021

Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL

por Downes, Susan M., Nguyen, Tham, Tai, Vicky, Broadgate, Suzanne, Shah, Mital, Al-Khuzaei, Saoud, MacLaren, Robert E., Shanks, Morag, Clouston, Penny, Halford, Stephanie
Publicado 2020

Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes

por Feenstra, Helena M., Al-Khuzaei, Saoud, Shah, Mital, Broadgate, Suzanne, Shanks, Morag, Kamath, Archith, Yu, Jing, Jolly, Jasleen K., MacLaren, Robert E., Clouston, Penny, Halford, Stephanie, Downes, Susan M.
Publicado 2022

Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa

por Fiorentino, Alessia, Yu, Jing, Arno, Gavin, Pontikos, Nikolas, Halford, Stephanie, Broadgate, Suzanne, Michaelides, Michel, Carss, Keren J., Raymond, F. Lucy, Cheetham, Michael E., Webster, Andrew R., Downes, Susan M., Hardcastle, Alison J.
Publicado 2018

Planetary Stewardship in an Urbanizing World: Beyond City Limits

por Seitzinger, Sybil P., Svedin, Uno, Crumley, Carole L., Steffen, Will, Abdullah, Saiful Arif, Alfsen, Christine, Broadgate, Wendy J., Biermann, Frank, Bondre, Ninad R., Dearing, John A., Deutsch, Lisa, Dhakal, Shobhakar, Elmqvist, Thomas, Farahbakhshazad, Neda, Gaffney, Owen, Haberl, Helmut, Lavorel, Sandra, Mbow, Cheikh, McMichael, Anthony J., deMorais, Joao M. F., Olsson, Per, Pinho, Patricia Fernanda, Seto, Karen C., Sinclair, Paul, Stafford Smith, Mark, Sugar, Lorraine
Publicado 2012

Safe and just Earth system boundaries

por Rockström, Johan, Gupta, Joyeeta, Qin, Dahe, Lade, Steven J., Abrams, Jesse F., Andersen, Lauren S., Armstrong McKay, David I., Bai, Xuemei, Bala, Govindasamy, Bunn, Stuart E., Ciobanu, Daniel, DeClerck, Fabrice, Ebi, Kristie, Gifford, Lauren, Gordon, Christopher, Hasan, Syezlin, Kanie, Norichika, Lenton, Timothy M., Loriani, Sina, Liverman, Diana M., Mohamed, Awaz, Nakicenovic, Nebojsa, Obura, David, Ospina, Daniel, Prodani, Klaudia, Rammelt, Crelis, Sakschewski, Boris, Scholtens, Joeri, Stewart-Koster, Ben, Tharammal, Thejna, van Vuuren, Detlef, Verburg, Peter H., Winkelmann, Ricarda, Zimm, Caroline, Bennett, Elena M., Bringezu, Stefan, Broadgate, Wendy, Green, Pamela A., Huang, Lei, Jacobson, Lisa, Ndehedehe, Christopher, Pedde, Simona, Rocha, Juan, Scheffer, Marten, Schulte-Uebbing, Lena, de Vries, Wim, Xiao, Cunde, Xu, Chi, Xu, Xinwu, Zafra-Calvo, Noelia, Zhang, Xin
Publicado 2023

Probability based high temperature engineering: creep and structural fire resistance

por Razdolsky, Leo
Publicado 2017