Juliana Helou

Confidence of UK Ophthalmology Registrars in Managing Posterior Capsular Rupture: Results from a National Trainee Survey

Andrew J. Swampillai, Victoria Nowak, Laura Maubon, James E. Neffendorf et autres

gb (code pays fourni par la source)

Retinal thickness measurements in sickle cell patients with HbSS and HbSC genotype

Wei Sing Lim, Tejal Magan, Omar A. Mahroo, Pirro G. Hysi et autres

gb, ca, mx (code pays fourni par la source)

Comparing macula thickness between sickle cell patients of HbSS and HbSC genotype using spectral domain optical coherence tomography.

Wei Sing Lim, Juliana Helou, Tejal Magan, Moin Mohamed

gb (code pays fourni par la source)

Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy

John F. O’Toole, Yangjian Liu, Erica E. Davis, Christopher J. Westlake et autres

Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy

John F. O’Toole, Yangjian Liu, Erica E. Davis, Christopher J. Westlake et autres

us, de, fi, nl, jp, gb, ca, fr (code pays fourni par la source)

Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy (vol 120, pg 791, 2010)

JF O'Toole, Yujuan Liu, Erica E. Davis, CJ Westlake et autres

Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing Communicated by Peter Byers

Edgar A. Otto, Juliana Helou, Susan J. Allen, John F. O’Toole et autres

NEK8 Mutations Affect Ciliary and Centrosomal Localization and May Cause Nephronophthisis

Edgar A. Otto, Melissa L. Trapp, Ulla T. Schultheiß, Juliana Helou et autres

us, ca (code pays fourni par la source)

Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing

Edgar A. Otto, Juliana Helou, Susan J. Allen, John F. O’Toole et autres

us (code pays fourni par la source)

Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis

Massimo Attanasio, N. Henriette Uhlenhaut, Vitor H. Sousa, John F. O’Toole et autres

us, de, ca (code pays fourni par la source)

Mutational analysis in 119 families with nephronophthisis

John F. O’Toole, Edgar A. Otto, Julia Hoefele, Juliana Helou et autres

us, de (code pays fourni par la source)

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

John A. Sayer, Edgar A. Otto, John F. O’Toole, Gudrun Nürnberg et autres

us, de, ca, jp, cn, ch (code pays fourni par la source)