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Detlef Böckenhauer

university college london

69H指数
482论文数
1.8W被引数
收录论文 115
发表时间
Whole-genome sequencing characterizes monogenic and polygenic contributions to structural kidney and urinary tract malformations全基因组测序揭示单基因和多基因对结构性肾脏和尿路畸形的影响
err2026-09-21
err0
errOAAI
errMelanie M.Y. Chan; Omid Sadeghi-Alavijeh; Seth du Preez; Catalin D. Voinescu; Loes F.M. van der Zanden; Sander Groen in ’t Woud; Michiel F. Schreuder; Wout Feitz; Enrico Mingardo; Alina C. Hilger; Heiko Reutter; Lisanne M. Vendrig; Rik Westland; Glenda M. Beaman; William G. Newman; Adrian S. Woolf; Horia C. Stanescu; Adam P. Levine; Detlef Böckenhauer; Daniel P. Gale
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Phenotypic spectrum of HNF4α-associated Fanconi renotubular syndromeHNF4α相关范可尼肾小管综合征的表型谱
err2026-05-26
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errOAAI
errFrancesco Emma; Detlef Böckenhauer; Andrew J. Mallett; Rupesh Raina; Sidharth K. Sethi; Gerlineke Hawkins-van der Cingel; Martin Bald; Leyat Tal; Martin Pohl; Marie Courbebaisse; Marguerite Hureaux; Robert Kleta; Barbara Ruggiero; Marina Aksenova; Héctor Ríos; Greg Wilson; Kay Latta; Justine Bacchetta; Francesco Trepiccione; Martin Konrad
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Metabolic acidosis causes a Fanconi-like syndrome with intracellular trafficking defects and proximal tubule dysfunction代谢性酸中毒导致一种范可尼样综合征,伴有细胞内转运缺陷和近端小管功能障碍
err2026-02-11
err0
PREAI
errJ. Christopher Hennings; Keerthana S. Murthy; Nicolas Picard; Inês Cabrita; David Böhm; Antje K. Huebner; Maria E. Krause; Gregor J. Gentsch; Vandit Shah; Jennifer Baraka-Vidot; Mukhran Khundadze; Diana Schmerler; Michael Kiehntopf; Tobias Stauber; Detlef Böckenhauer; Thomas J. Jentsch; Sebastian Bachmann; Christian Franke; Bernhard Schermer; Dominique Eladari; Régine Chambrey; Christian A. Hübner
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Failure to thrive in children with tubulopathies肾小管病患儿的生长发育迟缓
err2025-11-20
err0
PREAI
errGiulio Rivetti; Francesco Emma; Faidra Veligratli; Pierluigi Marzuillo; Detlef Böckenhauer
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Metabolic control affects growth in dRTA: findings from the ESPN-ERKNet dRTA sub-registry代谢控制影响dRTA的生长:ESPN-ERKNet dRTA子登记研究的结果
err2025-10-01
err0
errOAAI
errGiaccari, Marta; Topologlu, Rezan; Heidet, Laurence; Fila, Marc; Atmis, Bahriye; Bertholet-Thomas, Aurelia; Hooman, Nakysa; Aksu, Bagdagul; Eid, Loai; Bockenhauer, Detlef; Emma, Francesco
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Fifty Shades of Risk风险五十种形态
err2025-09-01
err0
PREAI
errSadeghi-Alavijeh, Omid; Chan, Melanie M. Y.; Stanescu, Horia; Gale, Daniel P.; Bockenhauer, Detlef
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Novel RRAGD variants in autosomal dominant kidney hypomagnesemia and therapeutic perspectives新发现的常染色体显性遗传性低镁血症中的RRAGD变异及其治疗展望
err2025-07-29
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errOAAI
errAnastasia Adella; François Jouret; Leire Madariaga; Pieter A. Leermakers; Pedro Arango; Gema Ariceta; Bodo B. Beck; Anna Bjerre; Detlef Bockenhauer; Paula Coccia; Radhika Dhamija; Fernando de Frutos; Alejandro Garcia-Castano; Sara B. van Katwijk; Jesus Lucas; Thomas Möller; Dominik Müller; Filippo Pinto e Vairo; Melinda Raki; Jonathan Rips; Karl Peter Schlingmann; Hanka Venselaar; Matheus Vernet Machado Bressan Wilke; Tom Nijenhuis; Joost Hoenderop; Jeroen de Baaij
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Thirsty encounters of the third kind第三类干渴遭遇
err2025-01-31
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PREAI
errDaniel G. Bichet; Detlef Bockenhauer
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Patient, Parental, and Health Professional Perspectives on Growth in Children With CKD患儿、家长及卫生专业人员对CKD患儿生长发育的看法
err2025-01-01
err1
PREAI
errWu, JG; Guha, C; Hughes, A; Torrisi, LG; Craig, JC; Sinha, A; Dart, A; Eddy, AA; Bockenhauer, D; Yap, HK; Groothoff, J; Alexander, SI; Furth, SL; Samuel, S; Carter, SA; Walker, A; Kausman, J; Jaure, A
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International expert consensus statement on the diagnosis and management of congenital nephrogenic diabetes insipidus (arginine vasopressin resistance)
err2024-10-22
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errOAAI
errLevtchenko, 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.
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Quantifying variant contributions in cystic kidney disease using national-scale whole-genome sequencing
err2024-08-27
err0
errOAAI
errSadeghi-Alavijeh, Omid; Chan, Melanie M. Y.; 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.
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Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions
err2024-08-01
err3
errOAAI
errBuffin-Meyer, Benedicte; Richard, Juliette; Guigonis, Vincent; Weber, Stefanie; Koenig, Jens; Heidet, Laurence; Moussaoui, Nabila; Vu, Jeanne-Pierrette; Faguer, Stanislas; Casemayou, Audrey; Prakash, Richa; Baudouin, Veronique; Hogan, Julien; Alexandrou, Demi; Bockenhauer, Detlef; Bacchetta, Justine; Ranchin, Bruno; Pruhova, Stepanka; Zieg, Jakub; Lahoche, Annie; Okorn, Christine; Antal-Konya, Violetta; Morin, Denis; Becherucci, Francesca; Habbig, Sandra; Liebau, Max C.; Mauras, Mathilde; Nijenhuis, Tom; Llanas, Brigitte; Mekahli, Djalila; Thumfart, Julia; Toenshoff, Burkhard; Massella, Laura; Eckart, Philippe; Cloarec, Sylvie; Cruz, Alejandro; Patzer, Ludwig; Roussey, Gwenaelle; Vrillon, Isabelle; Dunand, Olivier; Bessenay, Lucie; Taroni, Francesca; Zaniew, Marcin; Louillet, Ferielle; Bergmann, Carsten; Schaefer, Franz; Eerde, Albertien M. van; Schanstra, Joost P.; Decramer, Stephane
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Description and Cross-Sectional Analyses of 25,880 Adults and Children in the UK National Registry of Rare Kidney Diseases Cohort英国国家罕见肾脏疾病登记队列中25,880名成人和儿童的描述和横断面分析
err2024-07-01
err0
errOAAI
errWong, 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 W. K.; 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.
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Thirst, Hunger, and Nephrogenic Diabetes Insipidus
err2024-05-30
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errOAAI
errBichet, Daniel G.; Bockenhauer, Detlef
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A Neanderthal haplotype introgressed into the human genome confers protection against membranous nephropathy
err2024-04-01
err2
errOAAI
errVoinescu, Catalin D.; Mozere, Monika; Genovese, Giulio; Downie, Mallory L.; Gupta, Sanjana; Gale, Daniel P.; Bockenhauer, Detlef; Kleta, Robert; Arcos-Burgos, Mauricio; Stanescu, Horia C.
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Effects of rare kidney diseases on kidney failure: a longitudinal analysis of the UK National Registry of Rare Kidney Diseases (RaDaR) cohort罕见肾脏疾病对肾衰竭的影响: 英国国家罕见肾脏疾病登记 (RaDaR) 队列的纵向分析
errLANCET
IF88.5
err2024-03-01
err14
errOAAI
errWong, 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; 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 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.
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