Real-time PCR based on SYBR-Green I fluorescence: An alternative to the TaqMan assay for a relative quantification of gene rearrangements, gene amplifications and micro gene deleti...

by Puisieux Alain, Combaret Valerie, Bell Sandra M, Field Sarah L, Douglas Susan H, Leong Fong T, Bransfield Kieran, Toomes Carmel, Ponchel Frederique, Mighell Alan J, Robinson Philip A, Inglehearn Chris F, Isaacs John D, Markham Alex F
Published 2003-10-01

Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy

by Khan, Kamron N., El-Asrag, Mohammed E., Ku, Cristy A., Holder, Graham E., McKibbin, Martin, Arno, Gavin, Poulter, James A., Carss, Keren, Bommireddy, Tejaswi, Bagheri, Saghar, Bakall, Benjamin, Scholl, Hendrik P., Raymond, F. Lucy, Toomes, Carmel, Inglehearn, Chris F., Pennesi, Mark E., Moore, Anthony T., Michaelides, Michel, Webster, Andrew R., Ali, Manir
Published 2017

Molecular genetics and cell biology of ciliopathies

by Szymanska, Katarzyna
Published 2015

Genetic analysis of corneal dystrophies

by Siddiqui, Salina
Published 2016

Determining the genetic basis of Keratoconus and implications for treatment

by Abi Farraj, Layal Fadi
Published 2015

Functional characterisation of FEVR-related LGR4 missense mutations : implications in Norrin-β-Catenin signalling pathway and angiogenesis

by Sanjurjo Soriano, Carla
Published 2017

Determining the causes of recessive retinal dystrophy

by El-Asrag, Moham
Published 2016

Using NGS to identify new genes and modifiers underlying Familial Exudative Vitreoretinopathy (FEVR)

by Panagiotou, Evangelia
Published 2018