Making Homes More Dementia-Friendly through the Use of Aids and Adaptations

por Evans, Simon, Waller, Sarah, Bray, Jennifer, Atkinson, Teresa
Publicado 2019

Clinical utility of PKD2 mutation testing in a polycystic kidney disease cohort attending a specialist nephrology out-patient clinic

por Robinson, Caroline, Hiemstra, Thomas F, Spencer, Deborah, Waller, Sarah, Daboo, Laura, Karet Frankl, Fiona E, Sandford, Richard N
Publicado 2012

Identification and functional analysis of a novel oculocerebrorenal syndrome of Lowe (OCRL) gene variant in two pedigrees with varying phenotypes including isolated congenital cata...

por Shalaby, Ahmed K., Emery-Billcliff, Peter, Baralle, Diana, Dabir, Tabib, Begum, Shahiba, Waller, Sarah, Tabernero, Lydia, Lowe, Martin, Self, James
Publicado 2018

Deletions within COL11A1 in Type 2 stickler syndrome detected by multiplex ligation-dependent probe amplification (MLPA)

por Vijzelaar, Raymon, Waller, Sarah, Errami, Abdellatif, Donaldson, Alan, Lourenco, Teresa, Rodrigues, Marcia, McConnell, Vivienne, Fincham, Gregory, Snead, Martin, Richards, Allan
Publicado 2013

Bacterial flora-typing with targeted, chip-based Pyrosequencing

por Sundquist, Andreas, Bigdeli, Saharnaz, Jalili, Roxana, Druzin, Maurice L, Waller, Sarah, Pullen, Kristin M, El-Sayed, Yasser Y, Taslimi, M Mark, Batzoglou, Serafim, Ronaghi, Mostafa
Publicado 2007

The Role of Genetic Testing in Children Requiring Surgery for Ectopia Lentis

por Musleh, Mohammud, Bull, Adam, Linton, Emma, Liu, Jingshu, Waller, Sarah, Hardcastle, Claire, Clayton-Smith, Jill, Sharma, Vinod, Black, Graeme C., Biswas, Susmito, Ashworth, Jane L., Sergouniotis, Panagiotis I.
Publicado 2023

The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicity

por Sergouniotis, Panagiotis I., Barton, Stephanie J., Waller, Sarah, Perveen, Rahat, Ellingford, Jamie M., Campbell, Christopher, Hall, Georgina, Gillespie, Rachel L., Bhaskar, Sanjeev S., Ramsden, Simon C., Black, Graeme C., Lovell, Simon C.
Publicado 2016

Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature

por Taylor, Rachel L., Handley, Mark T., Waller, Sarah, Campbell, Christopher, Urquhart, Jill, Meynert, Alison M., Ellingford, Jamie M., Donnelly, Deirdre, Wilcox, Gisela, Lloyd, I. Chris, Mundy, Helen, FitzPatrick, David R., Deshpande, Charu, Clayton-Smith, Jill, Black, Graeme C.
Publicado 2017