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1Academic Journal
المؤلفون: Levtchenko, Elena, Ariceta, Gema, Arguedas Flores, Olga, Bichet, Daniel G., Bockenhauer, Detlef, Emma, Francesco, Hoorn, Ewout J., Koster-Kamphuis, Linda, Nijenhuis, Tom, Trepiccione, Francesco, Vargas-Poussou, Rosa, Walsh, Stephen B., Knoers, Nine V. A. M.
المصدر: Levtchenko , E , Ariceta , G , Arguedas Flores , O , Bichet , D G , Bockenhauer , D , Emma , F , Hoorn , E J , Koster-Kamphuis , L , Nijenhuis , T , Trepiccione , F , Vargas-Poussou , R , Walsh , S B & Knoers , N V A M 2024 , ' International expert consensus statement on the diagnosis and management of congenital nephrogenic diabetes insipidus (arginine vasopressin resistance) ' , Nature Reviews Nephrology . https://doi.org/10.1038/s41581-024-00897-z
مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being
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2Academic Journal
المؤلفون: Sadeghi-Alavijeh, Omid, Chan, Melanie My, Doctor, Gabriel T, Voinescu, Catalin D, Stuckey, Alexander, Kousathanas, Athanasios, Ho, Alexander T, Stanescu, Horia C, Bockenhauer, Detlef, Sandford, Richard N, Levine, Adam P, Gale, Daniel P
المصدر: The Journal of Clinical Investigation (JCI) , Article e181467. (2024)
مصطلحات موضوعية: Bioinformatics, Genetic diseases, Genetics, Molecular genetics, Nephrology
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/10196422/2/Gale_181467.1-20240827071902-covered-e0fd13ba177f913fd3156f593ead4cfd.pdf; https://discovery.ucl.ac.uk/id/eprint/10196422/
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3Academic Journal
المؤلفون: Voinescu, Cătălin D., Mozerė, Monika, Genovese, Giulio, Downie, Mallory L., Gupta, Sanjana, Gale, Daniel P., Bockenhauer, Detlef, Kleta, Robert, Arcos-Burgos, Mauricio, Stanescu, Horia C.
المصدر: Kidney international., New York : Elsevier, 2024, vol. 105, iss. 4, p. 791-798. ; ISSN 0085-2538 ; eISSN 1523-1755
مصطلحات موضوعية: chronic kidney disease, membranous nephropathy, nephrotic syndrome
وصف الملف: application/pdf
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4Academic Journal
المؤلفون: Wong, Katie, Pitcher, David, Braddon, Fiona, Downward, Lewis, Steenkamp, Retha, Annear, Nicholas, Barratt, Jonathan, Bingham, Coralie, Chrysochou, Constantina, Coward, Richard J., Game, David, Griffin, Sian, Hall, Matt, Johnson, Sally, Kanigicherla, Durga, Karet Frankl, Fiona, Kavanagh, David, Kerecuk, Larissa, Maher, Eamonn, Moochhala, Shabbir, Pinney, Jenny, Sayer, John A., Simms, Roslyn, Sinha, Smeeta, Srivastava, Shalabh, Tam, Frederick W.K., Turner, Andrew Neil, Walsh, Stephen B., Waters, Aoife, Wilson, Patricia, Wong, Edwin, Taylor, Christopher Mark, Nitsch, Dorothea, Saleem, Moin, Bockenhauer, Detlef, Bramham, Kate, Gale, Daniel P.
وصف الملف: text
Relation: https://publications.aston.ac.uk/id/eprint/46506/1/K_Wong_et_al_Effects_of_rare_kidney_diseases_on_kidney_failure_longitudinal_analysis_of_RaDaR_cohort.pdf; Wong, Katie, Pitcher, David, Braddon, Fiona, Downward, Lewis, Steenkamp, Retha, Annear, Nicholas, Barratt, Jonathan, Bingham, Coralie, Chrysochou, Constantina, Coward, Richard J., Game, David, Griffin, Sian, Hall, Matt, Johnson, Sally, Kanigicherla, Durga, Karet Frankl, Fiona, Kavanagh, David, Kerecuk, Larissa, Maher, Eamonn , Moochhala, Shabbir, Pinney, Jenny, Sayer, John A., Simms, Roslyn, Sinha, Smeeta, Srivastava, Shalabh, Tam, Frederick W.K., Turner, Andrew Neil, Walsh, Stephen B., Waters, Aoife, Wilson, Patricia, Wong, Edwin, Taylor, Christopher Mark, Nitsch, Dorothea, Saleem, Moin, Bockenhauer, Detlef, Bramham, Kate and Gale, Daniel P. (2024). Effects of rare kidney diseases on kidney failure: a longitudinal analysis of the UK National Registry of Rare Kidney Diseases (RaDaR) cohort. The Lancet, 403 (10433), pp. 1279-1289.
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5Academic Journal
المؤلفون: Bockenhauer, Detlef, Boyer, Olivia
المصدر: Acta Paediatrica: Nurturing the Child (2024) (In press).
مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Pediatrics, MUTATIONS, NPHS1
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6Academic Journal
المؤلفون: Bichet, Daniel G, Bockenhauer, Detlef
المساهمون: Phimister, Elizabeth G
المصدر: New England Journal of Medicine , 390 (20) pp. 1922-1924. (2024)
مصطلحات موضوعية: Humans, Thirst, Diabetes Insipidus, Nephrogenic, Hunger, Male, Female
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/10193472/1/Bockenhauer_Thirst%2003Jan24.pdf; https://discovery.ucl.ac.uk/id/eprint/10193472/
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7Academic Journal
المؤلفون: Voinescu, Catalin D, Mozere, Monika, Genovese, Giulio, Downie, Mallory L, Gupta, Sanjana, Gale, Daniel P, Bockenhauer, Detlef, Kleta, Robert, Arcos-Burgos, Mauricio, Stanescu, Horia C
المصدر: Kidney International (2024) (In press).
مصطلحات موضوعية: Chronic kidney disease, membranous nephropathy, nephrotic syndrome
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/10187510/1/1-s2.0-S0085253824000735-main.pdf; https://discovery.ucl.ac.uk/id/eprint/10187510/
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8Academic Journal
المؤلفون: Wong, Katie, Pitcher, David, Braddon, Fiona, Downward, Lewis, Steenkamp, Retha, Masoud, Sherry, Annear, Nicholas, Barratt, Jonathan, Bingham, Coralie, Coward, Richard J, Chrysochou, Tina, Game, David, Griffin, Sian, Hall, Matt, Johnson, Sally, Kanigicherla, Durga, Frankl, Fiona Karet, Kavanagh, David, Kerecuk, Larissa, Maher, Eamonn R, Moochhala, Shabbir, Pinney, Jenny, Sayer, John A, Simms, Roslyn, Sinha, Smeeta, Srivastava, Shalabh, Tam, Frederick WK, Thomas, Kay, Turner, A Neil, Walsh, Stephen B, Waters, Aoife, Wilson, Patricia, Wong, Edwin, Sy, Karla Therese L, Huang, Kui, Ye, Jamie, Nitsch, Dorothea, Saleem, Moin, Bockenhauer, Detlef, Bramham, Kate, Gale, Daniel P
المصدر: Kidney International Reports , 9 (7) pp. 2067-2083. (2024)
مصطلحات موضوعية: Ethnicity, RaDaR, rare kidney disease registry, rare kidney diseases, social deprivation
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/10196185/1/Description%20and%20Cross-Sectional%20Analyses%20of%2025,880%20Adults%20and%20Children%20in%20the%20UK%20National%20Registry%20of%20Rare%20Kidney%20Diseases%20C.pdf; https://discovery.ucl.ac.uk/id/eprint/10196185/
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9
المؤلفون: Chromek, Milan, Jungner, Asa, Rudolfson, Niclas, Ley, David, Bockenhauer, Detlef, Hagander, Lars
المصدر: Archives of Disease in Childhood. 106(5):195-491
مصطلحات موضوعية: general paediatrics, nephrology, paediatric surgery, Medicin och hälsovetenskap, Klinisk medicin, Pediatrik, Medical and Health Sciences, Clinical Medicine, Pediatrics, Kirurgi, Surgery
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10Academic Journal
المؤلفون: Bockenhauer, Detlef, Stanescu, Horia
المصدر: Pediatric Nephrology , 40 (2) pp. 297-300. (2025)
مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Pediatrics, Urology & Nephrology, MUTATIONS
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11Academic Journal
المؤلفون: Tong, Allison, Manns, Braden, Wang, Angela Yee Moon, Hemmelgarn, Brenda, Wheeler, David C, Gill, John, Tugwell, Peter, Pecoits-Filho, Robert, Crowe, Sally, Harris, Tess, Van Biesen, Wim, Winkelmayer, Wolfgang C, Levin, Adeera, Thompson, Aliza, Perkovic, Vlado, Ju, Angela, Gutman, Talia, Bernier-Jean, Amelie, Viecelli, Andrea K, O’Lone, Emma, Shen, Jenny, Josephson, Michelle A, Cho, Yeoungjee, Johnson, David W, Sautenet, Bénédicte, Tonelli, Marcello, Craig, Jonathan C, Investigators, SONG Implementation Workshop, Craig, Jonathan, Wang, Angela, Wheeler, David, Pecoits-Filho, Roberto, van Biesen, Wim, Winkelmayer, Wolfgang, Sinha, Aditi, Ong, Albert, Denny, Alexis, Dart, Allison, Eddy, Allison, Kelly, Amy, Viecelli, Andrea, Davenport, Andrew, Narva, Andrew, Sharma, Ankit, Warrens, Anthony, Chapman, Arlene, Teixeira-Pinto, Armando, Kelly, Ayano, Murphy, Barbara, Sautenet, Benedicte, Padilla, Benita, Canaud, Bernard, Pullin, Brian, Schiller, Brigitte, Robinson, Bruce, Hanson, Camilla, Hawley, Carmel, Logeman, Charlotte, Lok, Charmaine, Wanner, Christoph, Herzog, Chuck, Rutherford, Claudia, Ahn, Curie, Sumpton, Daniel, Rosenbloom, David, Harris, David, Baron, David, Johnson, David, White, David, Gipson, Debbie, Fouque, Denis, Eilers, Denise, Bockenhauer, Detlef, O'Donoghue, Donal, Chen, Dongping, Dunning, Dyke, Brown, Edwina, Bavlovlenkov, Elena, Mannon, Elinor, Poggio, Emilo, O'Lone, Emma, Chemla, Eric, Dobbels, Fabienne, Zannad, Faiez, Caskey, Fergus, Tentori, Francesca, Hurst, Frank, Schaefer, Franz, Wong, Germaine
المصدر: Kidney International. 94(6)
مصطلحات موضوعية: Clinical Trials and Supportive Activities, Kidney Disease, Clinical Research, Comparative Effectiveness Research, Renal and urogenital, Generic health relevance, Good Health and Well Being, Consensus, Endpoint Determination, Humans, Randomized Controlled Trials as Topic, Renal Insufficiency, Chronic, Research Design, Stakeholder Participation, Treatment Outcome, core outcome sets, implementation, kidney disease, outcomes, patient-centered care, trials, SONG Implementation Workshop Investigators, Clinical Sciences, Urology & Nephrology
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/1q28z6nd
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12Academic Journal
المؤلفون: Wagner, Carsten A, Unwin, Robert, Lopez-Garcia, Sergio C, Kleta, Robert, Bockenhauer, Detlef, Walsh, Stephen
المصدر: Wagner, Carsten A; Unwin, Robert; Lopez-Garcia, Sergio C; Kleta, Robert; Bockenhauer, Detlef; Walsh, Stephen (2023). The pathophysiology of distal renal tubular acidosis. Nature Reviews. Nephrology, 19(6):384-400.
مصطلحات موضوعية: Institute of Physiology, 570 Life sciences, biology, 610 Medicine & health, Nephrology
وصف الملف: application/pdf
Relation: https://www.zora.uzh.ch/id/eprint/256289/2/ZORA_256289_aM.pdf; https://www.zora.uzh.ch/id/eprint/256289/1/ZORA_256289_vV.pdf; info:pmid/37016093; urn:issn:1759-5061
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13Academic Journal
المؤلفون: Burballa, Carla, Cantero-Recasens, Gerard, Prikhodina, Larisa, Lugani, Francesca, Schlingmann, Karlpeter, Ananin, Petr V., Besouw, Martine, Bockenhauer, Detlef, Madariaga, Leire, Bertholet-Thomas, Aurelia, Taroni, Francesca, Parolin, Mattia, Conlon, Peter, Emma, Francesco, Del Prete, Dorella, Chauveau, Dominique, Koster-Kamphuis, Linda, Fila, Marc, Pasini, Andrea, Castro, Isabel, Colussi, Giacomo, Gil, Marta, Mohidin, Barian, Wlodkowski, Tanja, Schaefer, Franz, Ariceta, Gema
المصدر: DENT study group , Burballa , C , Cantero-Recasens , G , Prikhodina , L , Lugani , F , Schlingmann , K , Ananin , P V , Besouw , M , Bockenhauer , D , Madariaga , L , Bertholet-Thomas , A , Taroni , F , Parolin , M , Conlon , P , Emma , F , Del Prete , D , Chauveau , D , Koster-Kamphuis , L , Fila , M , Pasini , A , Castro , I , Colussi , G , Gil , M , Mohidin , B , Wlodkowski ....
مصطلحات موضوعية: CLCN5 gene, Dent's disease 1 (DD1), low molecular weight proteinuria, nephrocalcinosis, tubulopathy
وصف الملف: application/pdf
الاتاحة: https://hdl.handle.net/11370/34eb2e89-fd74-4916-a2b9-4bab146f5add
https://research.rug.nl/en/publications/34eb2e89-fd74-4916-a2b9-4bab146f5add
https://doi.org/10.1093/ndt/gfac310
https://pure.rug.nl/ws/files/825156102/Clinical_and_genetic_characteristics_of_Dent_s_disease_type_1_in_Europe.pdf
http://www.scopus.com/inward/record.url?scp=85160874176&partnerID=8YFLogxK -
14Academic Journal
المؤلفون: Veys, Koenraad, Zadora, Ward, Hohenfellner, Katharina, Bockenhauer, Detlef, Janssen, Mirian C.H., Niaudet, Patrick, Servais, Aude, Topaloglu, Rezan, Besouw, Martine, Novo, Robert, Haffner, Dieter, Kanzelmeyer, Nele, Pape, Lars, Wühl, Elke, Harms, Erik, Awan, Atif, Sikora, Przemyslaw, Ariceta, Gema, van den Heuvel, Bert, Levtchenko, Elena
المصدر: Veys , K , Zadora , W , Hohenfellner , K , Bockenhauer , D , Janssen , M C H , Niaudet , P , Servais , A , Topaloglu , R , Besouw , M , Novo , R , Haffner , D , Kanzelmeyer , N , Pape , L , Wühl , E , Harms , E , Awan , A , Sikora , P , Ariceta , G , van den Heuvel , B & Levtchenko , E 2023 , ' Outcome of infantile nephropathic cystinosis depends on early intervention, not genotype : A ....
مصطلحات موضوعية: cystinosis, genotype, newborn screening, outcome, siblings
وصف الملف: application/pdf
الاتاحة: https://hdl.handle.net/11370/845c01fc-a2a6-4f5e-9ca6-d3555f5ae2f4
https://research.rug.nl/en/publications/845c01fc-a2a6-4f5e-9ca6-d3555f5ae2f4
https://doi.org/10.1002/jimd.12562
https://pure.rug.nl/ws/files/654912630/J_of_Inher_Metab_Disea_2022_Veys_Outcome_of_infantile_nephropathic_cystinosis_depends_on_early_intervention_not.pdf -
15Academic Journal
المؤلفون: Lopez-Garcia, Sergio C., Downie, Mallory L., Kim, Ji Soo, Boyer, Olivia, Walsh, Stephen B., Nijenhuis, Tom, Papizh, Svetlana, Yadav, Pallavi, Reynolds, Ben C., Decramer, Stéphane, Besouw, Martine, Carrascosa, Manel Perelló, Scola, Claudio La, Trepiccione, Francesco, Ariceta, Gema, Hummel, Aurélie, Dossier, Claire, Sayer, John A., Konrad, Martin, Keijzer-Veen, Mandy G., Awan, Atif, Basu, Biswanath, Chauveau, Dominique, Madariaga, Leire, Koster-Kamphuis, Linda, Furlano, Mónica, Zacchia, Miriam, Marzuillo, Pierluigi, Tse, Yincent, Dursun, Ismail, Pinarbasi, Ayse Seda, Tramma, Despoina, Hoorn, Ewout J., Gokce, Ibrahim, Nicholls, Kathleen, Eid, Loai A., Sartz, Lisa, Riordan, Michael, Hooman, Nakysa, Printza, Nikoleta, Bonny, Olivier, Sancho, Pedro Arango, Schild, Raphael, Sinha, Rajiv, Guarino, Stefano, Jimenez, Victor Martinez, Peña, Lidia Rodríguez, Belge, Hendrica, Devuyst, Olivier, Knoers, Nine V.A.M., Bockenhauer, Detlef
المصدر: European NDI Consortium , Lopez-Garcia , S C , Downie , M L , Kim , J S , Boyer , O , Walsh , S B , Nijenhuis , T , Papizh , S , Yadav , P , Reynolds , B C , Decramer , S , Besouw , M , Carrascosa , M P , Scola , C L , Trepiccione , F , Ariceta , G , Hummel , A , Dossier , C , Sayer , J A , Konrad , M , Keijzer-Veen , M G , Awan , A , Basu , ....
مصطلحات موضوعية: AQP2, AVPR2, chronic kidney disease, flow uropathy, nephrogenic diabetes insipidus
وصف الملف: application/pdf
الاتاحة: https://hdl.handle.net/11370/cecaf98e-61c0-49cf-8f46-a17a782cf3c5
https://research.rug.nl/en/publications/cecaf98e-61c0-49cf-8f46-a17a782cf3c5
https://doi.org/10.1093/ndt/gfaa243
https://pure.rug.nl/ws/files/912726372/gfaa243.pdf
http://www.scopus.com/inward/record.url?scp=85177775617&partnerID=8YFLogxK -
16Academic Journal
المؤلفون: Tschernoster, Nikolai, Erger, Florian, Kohl, Stefan, Reusch, Björn, Wenzel, Andrea, Walsh, Stephen, Thiele, Holger, Becker, Christian, Franitza, Marek, Bartram, Malte P., Kömhoff, Martin, Schumacher, Lena, Kukat, Christian, Borodina, Tatiana, Quedenau, Claudia, Nürnberg, Peter, Rinschen, Markus M., Driller, Jan H., Pedersen, Bjørn P., Schlingmann, Karl P., Hüttel, Bruno, Bockenhauer, Detlef, Beck, Bodo, Altmüller, Janine
المصدر: Tschernoster , N , Erger , F , Kohl , S , Reusch , B , Wenzel , A , Walsh , S , Thiele , H , Becker , C , Franitza , M , Bartram , M P , Kömhoff , M , Schumacher , L , Kukat , C , Borodina , T , Quedenau , C , Nürnberg , P , Rinschen , M M , Driller , J H , Pedersen , B P , Schlingmann , K P , Hüttel , B , Bockenhauer , D , Beck , B & Altmüller , ....
مصطلحات موضوعية: Bartter syndrome type 3, CLCNKA, CLCNKB, HiFi-sequencing, Long-read sequencing, Next-generation sequencing, Risk haplotype, Salt-wasting tubulopathy, Structural variant, Target enrichment
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17Academic Journal
المؤلفون: Downie, Mallory L., Gupta, Sanjana, Voinescu, Catalin, Levine, Adam P., Sadeghi-Alavijeh, Omid, Dufek-Kamperis, Stephanie, Cao, Jingjing, Christian, Martin, Kari, Jameela A., Thalgahagoda, Shenal, Ranawaka, Randula, Abeyagunawardena, Asiri, Gbadegesin, Rasheed, Parekh, Rulan, Kleta, Robert, Bockenhauer, Detlef, Stanescu, Horia C., Gale, Daniel P.
المصدر: Downie , M L , Gupta , S , Voinescu , C , Levine , A P , Sadeghi-Alavijeh , O , Dufek-Kamperis , S , Cao , J , Christian , M , Kari , J A , Thalgahagoda , S , Ranawaka , R , Abeyagunawardena , A , Gbadegesin , R , Parekh , R , Kleta , R , Bockenhauer , D , Stanescu , H C & Gale , D P 2023 , ' Common Risk Variants in AHI1 Are Associated With Childhood Steroid Sensitive Nephrotic Syndrome ' , Kidney international reports , vol. ....
مصطلحات موضوعية: AHI1, GWAS, HLA, pediatric nephrology, SSNS
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18Academic Journal
المؤلفون: Veligratli, Faidra, Alexandrou, Demitra, Shah, Sarit, Amin, Rakesh, Dattani, Mehul, Gan, Hoong-Wei, Famuboni, Adeola, Lopez-Garcia, Camilo, Trompeter, Richard, Bockenhauer, Detlef
المصدر: Pediatric Nephrology , 39 (1) pp. 177-183. (2023)
مصطلحات موضوعية: ADH, Hyponatraemia, SIADH, Tolvaptan, Urea
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/10193070/1/Bockenhauer_Manuscript%20Ped%20Nephrev1clean.pdf; https://discovery.ucl.ac.uk/id/eprint/10193070/
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19Academic Journal
المؤلفون: Gupta, Sanjana, Downie, Mallory Lorraine, Cheshire, Chris, Dufek-Kamperis, Stephanie, Levine, Adam Paul, Brenchley, Paul, Hoxha, Elion, Stahl, Rolf, Ashman, Neil, Pepper, Ruth Jennifer, Mason, Sean, Norman, Jill, Bockenhauer, Detlef, Stanescu, Horia Constantin, Kleta, Robert, Gale, Daniel Philip
المصدر: Glomerular Diseases , 3 (1) pp. 116-125. (2023)
مصطلحات موضوعية: Autoantibody, Genetic risk score, Membranous nephropathy, Phospholipase A2 receptor 1, Thrombospondin type-1 domain containing 7A
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/10169032/1/529959.pdf; https://discovery.ucl.ac.uk/id/eprint/10169032/
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20Academic Journal
المؤلفون: Bockenhauer, Detlef, Knoers, Nine VAM, Bichet, Daniel G
المصدر: Pediatric Nephrology , 38 pp. 937-939. (2023)
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/10160713/2/Bockenhauer_DIeditorialREV1clean.pdf; https://discovery.ucl.ac.uk/id/eprint/10160713/