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Kidney International|May 29, 2016
Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorderRhian L Clissold, Charles Shaw-Smith, Peter Turnpenny, et al.
Orphanet Journal of Rare Diseases|May 2, 2019
A step-wise approach for establishing a multidisciplinary team for the management of tuberous sclerosis complex: a Delphi consensus reportStéphane Auvin, John J Bissler, Vincent Cottin, et al.
Orphanet Journal of Rare Diseases|April 21, 2022
Developing a taxonomy of care coordination for people living with rare conditions: a qualitative studyHolly Walton, Amy Simpson, Angus I G Ramsay, et al.
Orphanet Journal of Rare Diseases|September 9, 2024
Preferences for coordinated care for rare diseases: discrete choice experimentStephen Morris, Holly Walton, Amy Simpson, et al.
The Journal of Pediatrics|July 24, 2007
Hemolytic uremic syndrome associated with invasive pneumococcal disease: the United kingdom experienceAoife M Waters, Larissa Kerecuk, David Luk, et al.
The Lancet. Child & Adolescent Health|November 28, 2022
Intensive compared with less intensive blood pressure control to prevent adverse cardiac remodelling in children with chronic kidney disease (HOT-KID): a parallel-group, open-label, multicentre, randomised, controlled trialManish D Sinha, Haotian Gu, Abdel Douiri, et al.
Orphanet Journal of Rare Diseases|November 24, 2023
Experiences of coordinated care for people in the UK affected by rare diseases: cross-sectional survey of patients, carers, and healthcare professionalsHolly Walton, Pei Li Ng, Amy Simpson, et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|August 25, 2016
Kidney Versus Combined Kidney and Liver Transplantation in Young People With Autosomal Recessive Polycystic Kidney Disease: Data From the European Society for Pediatric Nephrology/European Renal Association-European Dialysis and Transplant (ESPN/ERA-EDTA) RegistryDjalila Mekahli, Karlijn J van Stralen, Marjolein Bonthuis, et al.
Clinical Journal of the American Society of Nephrology : CJASN|January 26, 2013
Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndromeHugh J McCarthy, Agnieszka Bierzynska, Matt Wherlock, et al.
Journal of the American Society of Echocardiography : Official Publication of the American Society of Echocardiography|November 22, 2023
Decline in Left Ventricular Early Systolic Function with Worsening Kidney Function in Children with Chronic Kidney Disease: Insights from the 4C and HOT-KID StudiesHaotian Gu, Karolis Azukaitis, Anke Doyon, et al.
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