Mutations in PIK3R1 Cause SHORT Syndrome
Dyment, David A., Smith, Amanda C., Alcantara, Diana, Schwartzentruber, Jeremy A., Basel-Vanagaite, Lina, Curry, Cynthia J., Temple, I. Karen, Reardon, William, Mansour, Sahar, Haq, Mushfequr R., Gilbert, Rodney, Lehmann, Ordan J., Vanstone, Megan R., Beaulieu, Chandree L., Majewski, Jacek, Bulman, Dennis E., O’Driscoll, Mark, Boycott, Kym M., Innes, A. Micheil
Published in American journal of human genetics (11.07.2013)
Published in American journal of human genetics (11.07.2013)
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Journal Article
Hemolytic Uremic Syndrome Associated with Invasive Pneumococcal Disease: The United Kingdom Experience
Waters, Aoife M., MRCPI, Kerecuk, Larissa, MRCPCH, Luk, David, MRCPCH, Haq, Mushfequr R., FRCPCH, Fitzpatrick, Margaret M., FRCPCH, Gilbert, Rodney D., FRCPCH, Inward, Carol, FRCPCH, Jones, Caroline, MRCPCH, Pichon, Bruno, PhD, Reid, Christopher, FRCPCH, Slack, Mary P.E., FRCPath, Van’t Hoff, William, FRCPCH, Dillon, Michael J., FRCPCH, Taylor, C.M., FRCPCH, Tullus, Kjell, FRCPCH
Published in The Journal of pediatrics (01.08.2007)
Published in The Journal of pediatrics (01.08.2007)
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Journal Article
Fifteen-minute consultation: Empowering children, young people and families through shared decision-making: a practical guide
Nagra, Arvind, Fuller, Isabella Darshani, Connett, Gary, Reynolds, Ben C, Tyerman, Kay, Wallace, Dean, Preka, Evgenia, Armstrong, Kirsten, Patel, Neeta, Shameti, Sarah, Edelman, James, Dempsey, Rosemary, Anderson, Caroline Elizabeth, Gilbert, Rodney, Haq, Mushfequr R, Harmer, Matthew, Tse, Yincent
Published in Archives of disease in childhood. Education and practice edition (27.06.2024)
Published in Archives of disease in childhood. Education and practice edition (27.06.2024)
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Journal Article
Mutations in phospholipase C epsilon 1 are not sufficient to cause diffuse mesangial sclerosis
Gilbert, Rodney D., Turner, Claire L.S., Gibson, Jane, Bass, Paul S., Haq, Mushfequr R., Cross, Esta, Bunyan, David J., Collins, Andrew R., Tapper, William J., Needell, Juliet C., Dell, Beverley, Morton, Newton E., Temple, I. Karen, Robinson, David O.
Published in Kidney international (01.02.2009)
Published in Kidney international (01.02.2009)
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Journal Article
Glutathione depletion and increased apoptosis rate in human cystinotic proximal tubular cells
Laube, Guido F, Shah, Vanita, Stewart, Victoria C, Hargreaves, Iain P, Haq, Mushfequr R, Heales, Simon J R, van't Hoff, William G
Published in Pediatric nephrology (Berlin, West) (01.04.2006)
Published in Pediatric nephrology (Berlin, West) (01.04.2006)
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Journal Article
Autosomal dominant inheritance of non-syndromic renal hypoplasia and dysplasia: dramatic variation in clinical severity in a single kindred
Kerecuk, Larissa, Sajoo, Anaar, McGregor, Lesley, Berg, Jonathan, Haq, Mushfequr R., Sebire, Neil J., Bingham, Coralie, Edghill, Emma L., Ellard, Sian, Taylor, Judy, Rigden, Sue, Flinter, Frances A., Woolf, Adrian S.
Published in Nephrology, dialysis, transplantation (01.01.2007)
Published in Nephrology, dialysis, transplantation (01.01.2007)
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Journal Article
Exfoliated human proximal tubular cells: a model of cystinosis and Fanconi syndrome
Laube, Guido F, Haq, Mushfequr R, van't Hoff, William G
Published in Pediatric nephrology (Berlin, West) (01.02.2005)
Published in Pediatric nephrology (Berlin, West) (01.02.2005)
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Journal Article
Immunolocalization of cystinosin, the protein defective in cystinosis
HAQ, Mushfequr R, KALATZIS, Vasiliki, GUBLER, Marie-Claire, TOWN, Margaret M, ANTIGNAC, Corinne, VAN'T HOFF, William G, WOOLF, Adrian S
Published in Journal of the American Society of Nephrology (01.08.2002)
Published in Journal of the American Society of Nephrology (01.08.2002)
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Journal Article
Autosomal dominant inheritance of non-syndromic renal hypoplasia and dysplasia: dramatic variation in clinical severity in a single kindred
Kerecuk, Larissa, Sajoo, Anaar, McGregor, Lesley, Berg, Jonathan, Haq, Mushfequr R., Sebire, Neil J., Bingham, Coralie, Edghill, Emma L., Ellard, Sian, Taylor, Judy, Rigden, Sue, Flinter, Frances A., Woolf, Adrian S.
Published in Nephrology Dialysis Transplantation (01.01.2007)
Published in Nephrology Dialysis Transplantation (01.01.2007)
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