Søgeresultater - William van’t Hoff
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Bi‐allelic <i>CLPB</i> mutations cause cataract, renal cysts, nephrocalcinosis and 3‐methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation af Marta Kanabus, Rojeen Shahni, José W. Saldanha, Elaine Murphy, Vincent Plagnol, William van’t Hoff, Simon Heales, Shamima Rahman
Udgivet 2015Artigo -
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Sleep apnoea in acromegaly. af W H Perks, P.M. Horrocks, R. Cooper, Sarah Bradbury, Angier Allen, N.M. Baldock, K Prowse, William van’t Hoff
Udgivet 1980Artigo -
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Molecular Characterization of CTNS Deletions in Nephropathic Cystinosis: Development of a PCR-Based Detection Assay af Lionel Forestier, G Jean, Marlene Attard, Stéphanie Cherqui, Cathryn M. Lewis, William van’t Hoff, M. Broyer, Margaret Town, Corinne Antignac
Udgivet 1999Artigo -
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Guidance on clinical research involving infants, children and young people: an update for researchers and research ethics committees af Neena Modi, J. Vohra, Jennifer Preston, Christina Elliott, William van’t Hoff, Jane Coad, Faith Gibson, Linda Partridge, Joe Brierley, Vic Larcher, Anne Greenough
Udgivet 2014Artigo -
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Ergocalciferol Supplementation in Children with CKD Delays the Onset of Secondary Hyperparathyroidism af Rukshana Shroff, Mandy Wan, Ambrose Gullett, Sarah Ledermann, Rachel Shute, Craig Knott, David G. Wells, Helen Aitkenhead, Bahee Manickavasagar, William van’t Hoff, Lesley Rees
Udgivet 2012Artigo -
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Hypervitaminosis A is prevalent in children with CKD and contributes to hypercalcemia af Baheerathi Manickavasagar, Andrew McArdle, Pallavi Yadav, Vanessa Shaw, Marjorie Dixon, Rune Blomhoff, Graeme O’ Connor, Lesley Rees, Sarah Ledermann, William van’t Hoff, Rukshana Shroff
Udgivet 2014Artigo -
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Sustained Efficacy and Safety of Burosumab, a Monoclonal Antibody to FGF23, in Children With X-Linked Hypophosphatemia af Agnès Linglart, Erik A. Imel, Michael P. Whyte, Anthony A. Portale, Wolfgang Högler, Annemieke M. Boot, Raja Padidela, William van’t Hoff, Gary S. Gottesman, Angel Chen, Alison Skrinar, Mary Scott Roberts, Thomas O. Carpenter
Udgivet 2021Artigo -
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Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome af Dorothy Thompson, Sally Feather, Horia Stanescu, Bernard Freudenthal, Anselm A. Zdebik, Richard Warth, Miloš Ognjanović, Sally A. Hulton, Evangeline Wassmer, William van’t Hoff, Isabelle Russell‐Eggitt, Angus Dobbie, Eamonn Sheridan, Robert Kleta, Detlef Böckenhauer
Udgivet 2011Artigo -
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Burosumab Therapy in Children with X-Linked Hypophosphatemia af Thomas O. Carpenter, Michael P. Whyte, Erik A. Imel, Annemieke M. Boot, Wolfgang Högler, Agnès Linglart, Raja Padidela, William van’t Hoff, Meng Mao, Chao-Yin Chen, Alison Skrinar, Emil Kakkis, Javier San Martín, Anthony A. Portale
Udgivet 2018Artigo -
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Conservative treatment for uncomplicated appendicitis in children: the CONTRACT feasibility study, including feasibility RCT af Nigel Hall, Frances Sherratt, Simon Eaton, Isabel Reading, Erin Walker, Maria Chorozoglou, Lucy Beasant, Wendy Wood, Michael Stanton, Harriet J. Corbett, Dean Rex, Natalie Hutchings, Elizabeth Dixon, Simon Grist, William van’t Hoff, Esther Crawley, Jane Blazeby, Bridget Young
Udgivet 2021Artigo -
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Acidosis and Deafness in Patients with Recessive Mutations in FOXI1 af Sven Enerbäck, Daniel Nilsson, Noel Edwards, Mikael Heglind, Sumaya Alkanderi, Emma Ashton, Asma Deeb, Feras E.B. Kokash, Abdul Rahim Ali Bakhsh, William van’t Hoff, Stephen B. Walsh, Felice D’Arco, Arezoo Daryadel, Soline Bourgeois, Carsten A. Wagner, Robert Kleta, Detlef Böckenhauer, John A. Sayer
Udgivet 2017Artigo
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