Diabetes and nephrotic syndrome: Questions

Por Gilbert, Rodney D, Hind, Edward, Vadgama, Bhumita
Publicado no Pediatr Nephrol (2017)

Diabetes and nephrotic syndrome: Answers

Por Gilbert, Rodney D, Hind, Edward, Vadgama, Bhumita
Publicado no Pediatr Nephrol (2016)

Tolvaptan treatment for severe neonatal autosomal-dominant polycystic kidney disease

Por Gilbert, Rodney D., Evans, Hazel, Olalekan, Kazeem, Nagra, Arvind, Haq, Mushfequr R., Griffiths, Mark
Publicado no Pediatr Nephrol (2017)

Progressive myoclonic epilepsy with Fanconi syndrome

Por Seaby, Eleanor G, Gilbert, Rodney D, Pengelly, Reuben J, Andreoletti, Gaia, Clarke, Antonia, Ennis, Sarah
Publicado no JRSM Open (2016)

Unexpected Findings in a Child with Atypical Hemolytic Uremic Syndrome: An Example of How Genomics Is Changing the Clinical Diagnostic Paradigm

Por Seaby, Eleanor G., Gilbert, Rodney D., Andreoletti, Gaia, Pengelly, Reuben J., Mercer, Catherine, Hunt, David, Ennis, Sarah
Publicado no Front Pediatr (2017)

Cisplatin-induced haemolytic uraemic syndrome associated with a novel intronic mutation of CD46 treated with eculizumab

Por Gilbert, Rodney D., Stanley, Louise K., Fowler, Darren J., Angus, Elizabeth M., Hardy, Steven A., Goodship, Timothy H.
Publicado em 2013

AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis

Por Andreoletti, Gaia, Seaby, Eleanor G, Dewing, Jennifer M, O'Kelly, Ita, Lachlan, Katherine, Gilbert, Rodney D, Ennis, Sarah
Publicado no J Med Genet (2017)

Simultaneous Sequencing of 24 Genes Associated with Steroid-Resistant Nephrotic Syndrome

Por McCarthy, Hugh J., Bierzynska, Agnieszka, Wherlock, Matt, Ognjanovic, Milos, Kerecuk, Larissa, Hegde, Shivaram, Feather, Sally, Gilbert, Rodney D., Krischock, Leah, Jones, Caroline, Sinha, Manish D., Webb, Nicholas J.A., Christian, Martin, Williams, Margaret M., Marks, Stephen, Koziell, Ania, Welsh, Gavin I., Saleem, Moin A.
Publicado em 2013

Short course daily prednisolone therapy during an upper respiratory tract infection in children with relapsing steroid-sensitive nephrotic syndrome (PREDNOS 2): protocol for a rand...

Por Webb, Nicholas J A, Frew, Emma, Brettell, Elizabeth A, Milford, David V, Bockenhauer, Detlef, Saleem, Moin A, Christian, Martin, Hall, Angela S, Koziell, Ania, Maxwell, Heather, Hegde, Shivram, Finlay, Eric R, Gilbert, Rodney D, Booth, Jenny, Jones, Caroline, McKeever, Karl, Cook, Wendy, Ives, Natalie J
Publicado em 2014

Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation

Por Ng, Bobby G., Buckingham, Kati J., Raymond, Kimiyo, Kircher, Martin, Turner, Emily H., He, Miao, Smith, Joshua D., Eroshkin, Alexey, Szybowska, Marta, Losfeld, Marie E., Chong, Jessica X., Kozenko, Mariya, Li, Chumei, Patterson, Marc C., Gilbert, Rodney D., Nickerson, Deborah A., Shendure, Jay, Bamshad, Michael J., Freeze, Hudson H.
Publicado em 2013

Factor H autoantibody is associated with atypical hemolytic uremic syndrome in children in the United Kingdom and Ireland

Por Brocklebank, Vicky, Johnson, Sally, Sheerin, Thomas P., Marks, Stephen D., Gilbert, Rodney D., Tyerman, Kay, Kinoshita, Meredith, Awan, Atif, Kaur, Amrit, Webb, Nicholas, Hegde, Shivaram, Finlay, Eric, Fitzpatrick, Maggie, Walsh, Patrick R., Wong, Edwin K.S., Booth, Caroline, Kerecuk, Larissa, Salama, Alan D., Almond, Mike, Inward, Carol, Goodship, Timothy H., Sheerin, Neil S., Marchbank, Kevin J., Kavanagh, David
Publicado no Kidney Int (2017)

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

Por Taylor, Jenny C, Martin, Hilary C, Lise, Stefano, Broxholme, John, Cazier, Jean-Baptiste, Rimmer, Andy, Kanapin, Alexander, Lunter, Gerton, Fiddy, Simon, Allan, Chris, Aricescu, A. Radu, Attar, Moustafa, Babbs, Christian, Becq, Jennifer, Beeson, David, Bento, Celeste, Bignell, Patricia, Blair, Edward, Buckle, Veronica J, Bull, Katherine, Cais, Ondrej, Cario, Holger, Chapel, Helen, Copley, Richard R, Cornall, Richard, Craft, Jude, Dahan, Karin, Davenport, Emma E, Dendrou, Calliope, Devuyst, Olivier, Fenwick, Aimée L, Flint, Jonathan, Fugger, Lars, Gilbert, Rodney D, Goriely, Anne, Green, Angie, Greger, Ingo H., Grocock, Russell, Gruszczyk, Anja V, Hastings, Robert, Hatton, Edouard, Higgs, Doug, Hill, Adrian, Holmes, Chris, Howard, Malcolm, Hughes, Linda, Humburg, Peter, Johnson, David, Karpe, Fredrik, Kingsbury, Zoya, Kini, Usha, Knight, Julian C, Krohn, Jonathan, Lamble, Sarah, Langman, Craig, Lonie, Lorne, Luck, Joshua, McCarthy, Davis, McGowan, Simon J, McMullin, Mary Frances, Miller, Kerry A, Murray, Lisa, Németh, Andrea H, Nesbit, M Andrew, Nutt, David, Ormondroyd, Elizabeth, Oturai, Annette Bang, Pagnamenta, Alistair, Patel, Smita Y, Percy, Melanie, Petousi, Nayia, Piazza, Paolo, Piret, Sian E, Polanco-Echeverry, Guadalupe, Popitsch, Niko, Powrie, Fiona, Pugh, Chris, Quek, Lynn, Robbins, Peter A, Robson, Kathryn, Russo, Alexandra, Sahgal, Natasha, van Schouwenburg, Pauline A, Schuh, Anna, Silverman, Earl, Simmons, Alison, Sørensen, Per Soelberg, Sweeney, Elizabeth, Taylor, John, Thakker, Rajesh V, Tomlinson, Ian, Trebes, Amy, Twigg, Stephen RF, Uhlig, Holm H, Vyas, Paresh, Vyse, Tim, Wall, Steven A, Watkins, Hugh, Whyte, Michael P, Witty, Lorna, Wright, Ben, Yau, Chris, Buck, David, Humphray, Sean, Ratcliffe, Peter J, Bell, John I, Wilkie, Andrew OM, Bentley, David, Donnelly, Peter, McVean, Gilean
Publicado no Nat Genet (2015)