المؤلفون: Bökenkamp, Arend, Ariceta, Gema, Böckenhauer, Detlef, Devuyst, Olivier, Emma, Francesco, van Bennekom, David, Levtchenko, Elena, Sayer, John, Servais, Aude, Vargas, Rosa, Zaniew, Marcin, Prikhodina, Larisa

المصدر: Nephrology Dialysis Transplantation ; ISSN 0931-0509 1460-2385

الاتاحة: https://doi.org/10.1093/ndt/gfaf003
https://academic.oup.com/ndt/advance-article-pdf/doi/10.1093/ndt/gfaf003/61411181/gfaf003.pdf

المؤلفون: Vanhove, Thibault, Aertgeerts, Margo, Witters, Peter, Rymen, Daisy, Böckenhauer, Detlef, Frans, Glynis, Vermeersch, Pieter

المصدر: Biochemia Medica ; ISSN 1330-0962 (Print) ; ISSN 1846-7482 (Online) ; Volume 34 ; Issue 3

مصطلحات موضوعية: preanalytical phase, interference, homogentisic acid, dark-stained urine, alkaptonuria, inborn errors of metabolism, case report

وصف الملف: application/pdf

Relation: https://hrcak.srce.hr/321344

الاتاحة: https://hrcak.srce.hr/321344
https://hrcak.srce.hr/file/464769

المؤلفون: Sadeghi-Alavijeh, Omid, Chan, Melanie My, Moochhala, Shabbir H, Genomics England Research, Consortium, Howles, Sarah, Gale, Daniel P, Böckenhauer, Detlef

المصدر: Kidney International , 104 (5) pp. 975-984. (2023)

مصطلحات موضوعية: genetics, genomics, polygenic risk score, urinary stone disease

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10173503/1/Gale_1-s2.0-S0085253823004738-main.pdf; https://discovery.ucl.ac.uk/id/eprint/10173503/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10173503/1/Gale_1-s2.0-S0085253823004738-main.pdf
https://discovery.ucl.ac.uk/id/eprint/10173503/

المؤلفون: Kiparissi, Fevronia, Dastamani, Antonia, Palm, Liina, Azabdaftari, Aline, Campos, Luis, Gaynor, Edward, Grünewald, Stephanie, Uhlig, Holm H., Kleta, Robert, Böckenhauer, Detlef, Jones, Kelsey D. J.

المساهمون: Medical Research Council

المصدر: Human Genetics ; volume 142, issue 5, page 697-704 ; ISSN 0340-6717 1432-1203

الاتاحة: http://dx.doi.org/10.1007/s00439-023-02523-7
https://link.springer.com/content/pdf/10.1007/s00439-023-02523-7.pdf
https://link.springer.com/article/10.1007/s00439-023-02523-7/fulltext.html

المؤلفون: Issler, Naomi, Afonso, Sara, Weissman, Irith, Jordan, Katrin, Cebrian-Serrano, Alberto, Meindl, Katrin, Dahlke, Eileen, Tziridis, Konstantin, Yan, Guanhua, Robles-López, José M., Tabernero, Lydia, Patel, Vaksha, Kesselheim, Anne, Klootwijk, Enriko D., Stanescu, Horia C., Dumitriu, Simona, Iancu, Daniela, Tekman, Mehmet, Mozere, Monika, Jaureguiberry, Graciana, Outtandy, Priya, Russell, Claire, Forst, Anna-Lena, Sterner, Christina, Heinl, Elena-Sofia, Othmen, Helga, Tegtmeier, Ines, Reichold, Markus, Schiessl, Ina Maria, Limm, Katharina, Oefner, Peter, Witzgall, Ralph, Fu, Lifei, Theilig, Franziska, Schilling, Achim, Shuster Biton, Efrat, Kalfon, Limor, Fedida, Ayalla, Arnon-Sheleg, Elite, Ben Izhak, Ofer, Magen, Daniella, Anikster, Yair, Schulze, Holger, Ziegler, Christine, Lowe, Martin, Davies, Benjamin, Böckenhauer, Detlef, Kleta, Robert, Falik Zaccai, Tzipora C., Warth, Richard

مصطلحات موضوعية: 570 Biowissenschaften, Biologie, ddc:570

وصف الملف: application/pdf

Relation: https://epub.uni-regensburg.de/52334/1/Publikationsrechnung_Dartmouth_Warth.pdf; Issler, Naomi, Afonso, Sara, Weissman, Irith, Jordan, Katrin, Cebrian-Serrano, Alberto, Meindl, Katrin, Dahlke, Eileen, Tziridis, Konstantin, Yan, Guanhua, Robles-López, José M., Tabernero, Lydia, Patel, Vaksha, Kesselheim, Anne, Klootwijk, Enriko D., Stanescu, Horia C., Dumitriu, Simona, Iancu, Daniela, Tekman, Mehmet, Mozere, Monika, Jaureguiberry, Graciana, Outtandy, Priya, Russell, Claire, Forst, Anna-Lena, Sterner, Christina, Heinl, Elena-Sofia, Othmen, Helga, Tegtmeier, Ines, Reichold, Markus, Schiessl, Ina Maria, Limm, Katharina, Oefner, Peter, Witzgall, Ralph , Fu, Lifei, Theilig, Franziska, Schilling, Achim, Shuster Biton, Efrat, Kalfon, Limor, Fedida, Ayalla, Arnon-Sheleg, Elite, Ben Izhak, Ofer, Magen, Daniella, Anikster, Yair, Schulze, Holger, Ziegler, Christine, Lowe, Martin, Davies, Benjamin, Böckenhauer, Detlef, Kleta, Robert, Falik Zaccai, Tzipora C. und Warth, Richard (2022) A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness. Journal of the American Society of Nephrology 33 (4), S. 732-745.

الاتاحة: https://epub.uni-regensburg.de/52334/
https://epub.uni-regensburg.de/52334/1/Publikationsrechnung_Dartmouth_Warth.pdf
https://doi.org/10.1681/ASN.2021101312
https://jasn.asnjournals.org/content/33/4/732

المؤلفون: Sit, Jacqueline, Böckenhauer, Detlef, Waters, Aoife

المصدر: Abstracts ; page A353-A353

الاتاحة: http://dx.doi.org/10.1136/archdischild-2021-rcpch.614
https://syndication.highwire.org/content/doi/10.1136/archdischild-2021-rcpch.614

المؤلفون: Siew, Keith, Patel, Vaksha, Zimmermann, Jasminka, Vaughan, Michael B, Cheshire, Christopher, Kubik, Angela, Finch, Rebecca, Li, Zhongwang, Altinok, Selin, De Silvera, Willian, Rodriques, Samuel, Blaber, Elizabeth, Schisler, Jonathan, Galazka, Jonathan, Masafumi, Muratani, Beheshti, Afshin, Walsh, Stephen, Lean, Michael, Taylor, Roy, Sattar, Naveed, Mcintosh, Alasdair, Leslie, Wilma, McCombie, Louise, Brosnahan, Naomi, Thom, George, Barnes, Alison, Irvine, Keaton, Cook, Sarah, Hatem, Sara, Scully, Sean, Evans, Hywel T, Farr, Ian, Orton, Chris, Ford, David V, Sheikh, Aziz, Quint, Jennifer K, Ferenbach, David, Allen, Lowri, Mortimer, Georgina, Fareed, Rana, Williams, Claire, Bain, Steve, Dayan, Colin, Fraser, Diane, Hagopian, William, Oram, Richard, Gillespie, Kathleen, Sadeghi-Alavijeh, Omid, Chan, Melanie, Moochhala, Shabbir, Howles, Sarah, Gale, Daniel, Böckenhauer, Detlef, Jennings, Rachel, Baker, Syed Murtuza, Zarrineh, Peyman, Al-Banaki, Ali, Mullan, Aoibheann, Goncalves, Maria Alexandra, Hanley, Neil, Watson, Caroline, Apostolidou, Sophia, Menon, Usha, Blundell, Jamie, Shovlin, Claire, Bernabeu-Herrero, Maria, Jain, Kinshuk, Aldred, Michaela, Bielowka, Adrianna, Mackay, Ian, Guerrero, Patricia Chaves, Marciniak, Stefan, Noseda, Michela, Patel, Dilipkumar, Ho, Antonia, Orton, Richard, Tayler, Rachel, Asamaphan, Patawee, Herder, Vanessa, Davis, Chris, Tong, Lily, Smollett, Katherine, Pollock, Louisa, Evans, Clair, McMenamin, Jim, Roy, Kirsty, Marsh, Kimberly, Divala, Titus, Holden, Matt, Lockhart, Michael, Shepherd, Samantha, Jackson, Celia, Gunson, Rory, MacLean, Alasdair, Henderson, Paul, Chand, Meera, Levin, Michael, Palmarini, Massimo, Robertson, David, da Silva Filipe, Ana, Willett, Brian, Breuer, Judith, Semple, Malcolm, Turner, David, Baillie, Kenneth, Thomson, Emma, Horne, Elsie, Hulme, William, Keogh, Ruth, Palmer, Tom, Williamson, Elizabeth, Parker, Edward, Walker, Venexia, Goldacre, Ben, Hernán, Miguel, Sterne, Jonathan, Schofield, Jeremy, Abrams, Simon, Alhamdi, Yasir, Bartlett, Keirah, Hall, Steve, Wang, Guozheng, Casewell, Nicholas, Toh, Cheng-Hock, Dashtban, Ashkan, Mizani, Mehrdad, Pasea, Laura, Denaxas, Spiros, Corbett, Richard, Mamza, Jilbilly, Gao, He, Morris, Tamsin, Hemingway, Harry, Banerjee, Amitava, Raisi-Estabragh, Zahra, Ardissino, Maddalena, Bard, Andrew, Szabo, Liliana, Salih, Ahmed, McCracken, Celeste, Ruiz, Esmeralda, Altman, Andre, Antoniades, Charalambos, Neubauer, Stefan, Lekadir, Karim, Petersen, Steffen, Lees, Jennifer, Crowther, Jamie, Hanlon, Peter, Butterly, Elaine, Wild, Sarah, Mair, Frances, Guthrie, Bruce, Gillies, Katie, Dias, Sophie, Welton, Nicky, McAllister, David, Frost, Freddy, Nazareth, Dilip, Wat, Dennis, Walshaw, Martin, Lip, Gregory, Orešković, Tin, Bennett, Derrick, Lacey, Ben, Lewington, Sarah, Massa, Sofia, Bath, Philip, Wardlaw, Joanna, Mbizvo, Gashirai, Schnier, Christian, Simpson, Colin, Chin, Richard, Duncan, Susan, Wood, Greta K, Tharmaratnam, K, Sargent, B, Ahmad, Z, Pendered, S, Rogers, Hc, van Wamelen, D, Dunai, C, Martin, N, Menon, D K, Taylor, J P, David, A, Aggleton, J P, Carson, A, Harrison, N, Jackson, T, Nicholson, T, Breen, G, Hampshire, A, Michael, B D, Paddick, S M, Leek, C, The OpenSAFELYCollaborative, missing

المصدر: QJM-AN INTERNATIONAL JOURNAL OF MEDICINE ; ISSN: 1460-2725 ; ISSN: 1460-2393

مصطلحات موضوعية: Medicine and Health Sciences, General Medicine

Relation: https://biblio.ugent.be/publication/01HNWPA3MT60SGD42RSSC5R9XC; http://doi.org/10.1093/qjmed/hcad072

الاتاحة: https://biblio.ugent.be/publication/01HNWPA3MT60SGD42RSSC5R9XC
http://hdl.handle.net/1854/LU-01HNWPA3MT60SGD42RSSC5R9XC
https://doi.org/10.1093/qjmed/hcad072

المؤلفون: Ashraf, Shazia, Gee, Heon Yung, Woerner, Stephanie, Xie, Letian X, Vega-Warner, Virginia, Lovric, Svjetlana, Fang, Humphrey, Song, Xuewen, Cattran, Daniel C, Avila-Casado, Carmen, Paterson, Andrew D, Nitschké, Patrick, Bole-Feysot, Christine, Cochat, Pierre, Esteve-Rudd, Julian, Haberberger, Birgit, Allen, Susan J, Zhou, Weibin, Airik, Rannar, Otto, Edgar A, Barua, Moumita, Al-Hamed, Mohamed H, Kari, Jameela A, Evans, Jonathan, Bierzynska, Agnieszka, Saleem, Moin A, Böckenhauer, Detlef, Kleta, Robert, Desoky, Sherif El, Hacihamdioglu, Duygu O, Gok, Faysal, Washburn, Joseph, Wiggins, Roger C, Choi, Murim, Lifton, Richard P, Levy, Shawn, Han, Zhe, Salviati, Leonardo, Prokisch, Holger, Williams, David S, Pollak, Martin, Clarke, Catherine F, Pei, York, Antignac, Corinne, Hildebrandt, Friedhelm

المصدر: Journal of Clinical Investigation. 123(12)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Clinical Research, Complementary and Integrative Health, Aetiology, 2.1 Biological and endogenous factors, Renal and urogenital, Adolescent, Adrenal Cortex Hormones, Amino Acid Sequence, Animals, Cells, Cultured, Child, Consanguinity, Conserved Sequence, DNA Mutational Analysis, Disease Models, Animal, Drosophila Proteins, Drug Resistance, Exome, Fibroblasts, Gene Knockdown Techniques, Humans, Mitochondria, Molecular Sequence Data, Mutation, Nephrotic Syndrome, Podocytes, Protein Kinases, Rats, Sequence Alignment, Sequence Homology, Amino Acid, Ubiquinone, Young Adult, Zebrafish, Zebrafish Proteins, Medical and Health Sciences, Immunology, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3p0874pw

المؤلفون: Böckenhauer, Detlef

المصدر: Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature

الاتاحة: http://dx.doi.org/10.3410/f.741697535.793594446

المؤلفون: Schueler, Markus, Braun, Daniela A, Chandrasekar, Gayathri, Gee, Heon Yung, Klasson, Timothy D., Halbritter, Jan, Bieder, Andrea, Porath, Jonathan D, Airik, Rannar, Zhou, Weibin, LoTurco, Joseph J, Che, Alicia, Otto, Edgar A, Böckenhauer, Detlef, Sebire, Neil J, Honzik, Tomas, Harris, Peter C, Koon, Sarah J, Gunay-Aygun, Meral, Saunier, Sophie, Zerres, Klaus, Bruechle, Nadina Ortiz, Drenth, Joost P H, Pelletier, Laurence, Tapia-Páez, Isabel, Lifton, Richard P, Giles, R, Kere, Juha, Hildebrandt, Friedhelm

المساهمون: Nefro Vasculaire Geneeskunde, Regenerative Medicine and Stem Cells, Circulatory Health

مصطلحات موضوعية: Adaptor Proteins, Signal Transducing, Animals, Cilia, Computational Biology, Exons, HEK293 Cells, Humans, Kidney, Kidney Diseases, Cystic, Mice, Microscopy, Electron, Transmission, Microtubule-Associated Proteins, Mutation, NIH 3T3 Cells, Phenotype, Phosphoproteins, Wnt Signaling Pathway, Zebrafish, beta Catenin, Journal Article, Research Support, N.I.H., Extramural, Non-U.S. Gov't

وصف الملف: image/pdf

Relation: https://dspace.library.uu.nl/handle/1874/332916

الاتاحة: https://dspace.library.uu.nl/handle/1874/332916

المؤلفون: Böckenhauer, Detlef

المصدر: Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature

الاتاحة: http://dx.doi.org/10.3410/f.740937195.793589462

المؤلفون: Böckenhauer, Detlef

المصدر: Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature

الاتاحة: http://dx.doi.org/10.3410/f.734687182.793555744

المؤلفون: Böckenhauer, Detlef

المصدر: Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature

الاتاحة: http://dx.doi.org/10.3410/f.736170359.793563134

المؤلفون: Böckenhauer, Detlef

المصدر: Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature

الاتاحة: http://dx.doi.org/10.3410/f.736888896.793567202

المؤلفون: Böckenhauer, Detlef

المصدر: Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature

الاتاحة: http://dx.doi.org/10.3410/f.734501852.793558279

المؤلفون: Kari, Jameela A., Alhasan, Khalid A., Albanna, Amr S., Safdar, Osama Y., Shalaby, Mohamed A., Böckenhauer, Detlef, El-Desoky, Sherif M.

المصدر: Pediatric Nephrology; Aug2020, Vol. 35 Issue 8, p1445-1453, 9p, 2 Charts, 4 Graphs

مصطلحات موضوعية: CONFIDENCE intervals, EXPERIMENTAL design, LONGITUDINAL method, NEPHROTIC syndrome, DISEASE relapse, PILOT projects, RITUXIMAB, CYCLOPHOSPHAMIDE, DESCRIPTIVE statistics, CHILDREN

المؤلفون: Böckenhauer, Detlef

المصدر: Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature

الاتاحة: http://dx.doi.org/10.3410/f.732229132.793544034

المؤلفون: Recker, Florian, Zaniew, Marcin, Böckenhauer, Detlef, et al

المساهمون: University of Zurich

مصطلحات موضوعية: 2727 Nephrology, 10036 Medical Clinic, 610 Medicine & health, 2735 Pediatrics, Perinatology and Child Health

وصف الملف: ReckerF, 2015.pdf - application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od_______885::b86223b1f29b0238266e5c0dd56808ed
https://www.zora.uzh.ch/id/eprint/118970/

المؤلفون: Böckenhauer, Detlef, van't Hoff, William G.

المصدر: Comprehensive Pediatric Nephrology ; page 433-449 ; ISBN 9780323048835

الاتاحة: http://dx.doi.org/10.1016/b978-0-323-04883-5.50034-9
https://api.elsevier.com/content/article/PII:B9780323048835500349?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:B9780323048835500349?httpAccept=text/plain

المؤلفون: Böckenhauer, Detlef

المصدر: Comprehensive Pediatric Nephrology ; page 489-498 ; ISBN 9780323048835

الاتاحة: http://dx.doi.org/10.1016/b978-0-323-04883-5.50038-6
https://api.elsevier.com/content/article/PII:B9780323048835500386?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:B9780323048835500386?httpAccept=text/plain