المؤلفون: Chiuhui Mary Wang, Amy Heagle Whiting, Ana Rath, Roberta Anido, Diego Ardigò, Gareth Baynam, Hugh Dawkins, Ada Hamosh, Yann Le Cam, Helen Malherbe, Caron M. Molster, Lucia Monaco, Carmencita D. Padilla, Anne R. Pariser, Peter N. Robinson, Charlotte Rodwell, Franz Schaefer, Stefanie Weber, Flaminia Macchia

المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-6 (2024)

مصطلحات موضوعية: Rare diseases, Visibility, Definition, Coding, Healthcare systems, Prevalence, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/6511fb647b634113bca47862786d9736

المؤلفون: Franz Schaefer, Giovanni Montini, Hee Gyung Kang, Johan Vande Walle, Joshua Zaritsky, Michiel F. Schreuder, Mieczyslaw Litwin, Andrea Scalise, Helen Scott, James Potts, Pablo Iveli, Stefanie Breitenstein, Bradley A. Warady

المصدر: Trials, Vol 25, Iss 1, Pp 1-11 (2024)

مصطلحات موضوعية: Chronic kidney disease, Finerenone, Mineralocorticoid, Pediatric, Proteinuria, Renoprotective therapy, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1745-6215

URL الوصول: https://doaj.org/article/f2e125f9b26a47339c9360d781258851

المؤلفون: Victoria Hedley, Matt Bolz-Johnson, Ines Hernando, Rosalind Kenward, Rima Nabbout, Clara Romero, Franz Schaefer, Sheela Upadhyaya, Together4RD Steering Group

المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-22 (2023)

مصطلحات موضوعية: Rare disease, European reference network, Public–private-partnership, Rare diseases, ERNs, Networking, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/d01487e60fb147dc90105ed0732dfcfa

المؤلفون: Annalisa Landi, Yanis Mimouni, Viviana Giannuzzi, Franz Schaefer, Annagrazia Altavilla, Spencer Gibson, Daria Julkowska

المصدر: Frontiers in Medicine, Vol 11 (2024)

مصطلحات موضوعية: informed consent, rare diseases, research, ethics review, registries, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fmed.2024.1384026/full; https://doaj.org/toc/2296-858X

URL الوصول: https://doaj.org/article/70975e11dd4c4500b402471a602da30b

المؤلفون: Bagdagul Aksu, Alberto Caldas Afonso, Ipek Akil, Harika Alpay, Bahriye Atmis, Ozlem Aydog, Sevcan Bakkaloglu, Aysun Karabay Bayazıt, Meral Torun Bayram, Ilmay Bilge, Ipek Kaplan Bulut, Ayse Pinar Goksu Cetinkaya, Elif Comak, Belde Kasap Demir, Nida Dincel, Osman Donmez, Mehmet Akif Durmus, Hasan Dursun, Ruhan Dusunsel, Ali Duzova, Pelin Ertan, Asuman Gedikbasi, Nilufer Goknar, Sercin Guven, Duygu Hacihamdioglu, Augustina Jankauskiene, Mukaddes Kalyoncu, Salih Kavukcu, Bahriye Uzun Kenan, Nuran Kucuk, Bahar Kural, Mieczysław Litwin, Giovanni Montini, William Morello, Lukasz Obrycki, Beyhan Omer, Ebru Misirli Ozdemir, Nese Ozkayin, Dusan Paripovic, Cemile Pehlivanoglu, Seha Saygili, Franz Schaefer, Susanne Schaefer, Ferah Sonmez, Yilmaz Tabel, Nesrin Tas, Mehmet Tasdemir, Ana Teixeira, Demet Tekcan, Rezan Topaloglu, Sebahat Tulpar, Ozde Nisa Turkkan, Berfin Uysal, Metin Uysalol, Renata Vitkevic, Sevgi Yavuz, Sibel Yel, Tarik Yildirim, Zeynep Yuruk Yildirim, Nurdan Yildiz, Selcuk Yuksel, Eray Yurtseven, Alev Yilmaz

المصدر: Frontiers in Urology, Vol 3 (2024)

مصطلحات موضوعية: children, congenital anomalies of the kidney and urinary tract, CAKUT, heat shock proteins, Hsp70, UTILISE study, Diseases of the genitourinary system. Urology, RC870-923

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fruro.2023.1281081/full; https://doaj.org/toc/2673-9828

URL الوصول: https://doaj.org/article/a80c88e2313546b599114335aabc3870

المؤلفون: Djalila Mekahli, Max C. Liebau, Melissa A. Cadnapaphornchai, Stuart L. Goldstein, Larry A. Greenbaum, Mieczyslaw Litwin, Tomas Seeman, Franz Schaefer, Lisa M. Guay-Woodford

المصدر: BMC Nephrology, Vol 24, Iss 1, Pp 1-11 (2023)

مصطلحات موضوعية: Autosomal recessive polycystic kidney disease (ARPKD), Clinical trial, Tolvaptan, Pediatric, Efficacy, Safety, Diseases of the genitourinary system. Urology, RC870-923

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2369

URL الوصول: https://doaj.org/article/1bf40945d1034d07a5ca7a9914231cc8

المؤلفون: Bruna dos Santos Vieira, César H. Bernabé, Shuxin Zhang, Haitham Abaza, Nirupama Benis, Alberto Cámara, Ronald Cornet, Clémence M. A. Le Cornec, Peter A. C. ’t Hoen, Franz Schaefer, K. Joeri van der Velde, Morris A. Swertz, Mark D. Wilkinson, Annika Jacobsen, Marco Roos

المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)

مصطلحات موضوعية: FAIR, Stewardship, Rare disease, Patient registry, Data steward, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/1ce9c2ed683d4a8f8591c39c561ebed6

المؤلفون: Inês Henriques, Bruna dos Santos Vieira, César Henriques Bernabé, Shuxin Zhang, Alberto Cámara Ballesteros, Jose Antonio Ramírez García, Joeri van der Velde, Nirupama Benis, Peter 't Hoen, Marco Roos, Annika Jacobsen, Ronald Cornet, Mark Wilkinson, Franz Schaefer, Morris Swertz

مصطلحات موضوعية: FAIR, European Reference Networks, Patient Registries

Relation: https://zenodo.org/communities/eu; https://doi.org/10.5281/zenodo.7915232; https://doi.org/10.5281/zenodo.7915233; oai:zenodo.org:7915233

الاتاحة: https://doi.org/10.5281/zenodo.7915233

المؤلفون: Bruna dos Santos Vieira, César Henrique Bernabé, Ines Henriques, Shuxin Zhang, Alberto Ballasteros Camara, Jose Antonio Ramírez García, Joeri van der Velde, Philip van Damme, Pablo Alarcón Moreno, Nirupama Benis, Jolanda Strubel, Fieke Schoots, Pauline L'Henaff, P.A.C. 't Hoen, Marco Roos, Annika Jacobsen, Ronald Cornet, Mark D. Wilkinson, Franz Schaefer, Morris Swertz, Mijke Jetten

المصدر: Re(act) Congress 2023, International Congress Of Research On Rare And Orphan Diseases, Berlin, March 2023

مصطلحات موضوعية: FAIR data principles, FAIR data stewardship, FAIRification workflow, FAIRification, FAIRification stewards, FAIRopoly, De Novo FAIRification, Generic FAIRirification workflow

Relation: https://zenodo.org/communities/eu; https://doi.org/10.5281/zenodo.7867292; https://doi.org/10.5281/zenodo.7867293; oai:zenodo.org:7867293

الاتاحة: https://doi.org/10.5281/zenodo.7867293

المؤلفون: Catarina Pinto-Silva, Ana Correia-Costa, Cláudia Moura, Cláudia Mota, António Guerra, José Carlos Areias, Franz Schaefer, Alberto Caldas Afonso, Elke Wühl, Ana Azevedo, Liane Correia-Costa

المصدر: Brazilian Journal of Nephrology (2023)

مصطلحات موضوعية: Pediatric Obesity, Circadian Rhythm, Ultradian Rhythm, Diseases of the genitourinary system. Urology, RC870-923

وصف الملف: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0101-28002023005027502&lng=en&tlng=en; http://www.scielo.br/pdf/jbn/2023nahead/2175-8239-jbn-2022-0138.pdf; https://doaj.org/toc/2175-8239

URL الوصول: https://doaj.org/article/38c735b3283e40b3b6f901b3db97b342

المؤلفون: Kathrin Burgmaier, Samuel Kilian, Klaus Arbeiter, Bahriye Atmis, Anja Büscher, Ute Derichs, Ismail Dursun, Ali Duzova, Loai Akram Eid, Matthias Galiano, Michaela Gessner, Ibrahim Gokce, Karsten Haeffner, Nakysa Hooman, Augustina Jankauskiene, Friederike Körber, Germana Longo, Laura Massella, Djalila Mekahli, Gordana Miloševski-Lomić, Hulya Nalcacioglu, Rina Rus, Rukshana Shroff, Stella Stabouli, Lutz T. Weber, Simone Wygoda, Alev Yilmaz, Katarzyna Zachwieja, Ilona Zagozdzon, Jörg Dötsch, Franz Schaefer, Max Christoph Liebau, The ARegPKD Consortium

المصدر: Scientific Reports, Vol 11, Iss 1, Pp 1-10 (2021)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/6626eaeb179242108171c93a0a824388

المؤلفون: Loes F.M. van der Zanden, Iris A.L.M. van Rooij, Josine S.L.T. Quaedackers, Rien J.M. Nijman, Martijn Steffens, Liesbeth L.L. de Wall, Ernie M.H.F. Bongers, Franz Schaefer, Marietta Kirchner, Rouven Behnisch, Aysun K. Bayazit, Salim Caliskan, Lukasz Obrycki, Giovanni Montini, Ali Duzova, Matthias Wuttke, Rachel Jennings, Neil A. Hanley, Natalie J. Milmoe, Paul J.D. Winyard, Kirsten Y. Renkema, Michiel F. Schreuder, Nel Roeleveld, Wout F.J. Feitz

المصدر: European Urology Open Science, Vol 28, Iss , Pp 26-35 (2021)

مصطلحات موضوعية: CDH12, Genome-wide association study, Obstructive uropathy, Posterior urethral valves, Diseases of the genitourinary system. Urology, RC870-923, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666168321000744; https://doaj.org/toc/2666-1683

URL الوصول: https://doaj.org/article/4d5056c7d0d34280ac6b7f50cbf9e9f2

المؤلفون: Giulia Bassanese, Tanja Wlodkowski, Aude Servais, Laurence Heidet, Dario Roccatello, Francesco Emma, Elena Levtchenko, Gema Ariceta, Justine Bacchetta, Giovambattista Capasso, Augustina Jankauskiene, Marius Miglinas, Pietro Manuel Ferraro, Giovanni Montini, Jun Oh, Stephane Decramer, Tanja Kersnik Levart, Jack Wetzels, Elisabeth Cornelissen, Olivier Devuyst, Aleksandra Zurowska, Lars Pape, Anja Buescher, Dieter Haffner, Natasa Marcun Varda, Gian Marco Ghiggeri, Giuseppe Remuzzi, Martin Konrad, Germana Longo, Detlef Bockenhauer, Atif Awan, Ilze Andersone, Jaap W. Groothoff, Franz Schaefer

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-15 (2021)

مصطلحات موضوعية: European Rare Kidney Disease Reference Network (ERKNet), Registry, Epidemiology, Nephrology, Pediatric nephrology, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/298d7b2d56344d9ab3fa1ca68f07142f

المؤلفون: DACHY, Angélique, De Rechter, Stéphanie, L.M, Guay-woodford, A.J., Mallet, Tess, Harris, Detlef, Bockenhauer, Franz, Schaefer, Max Christophe, Liebau, Djalila, Mekahli, on behalf of the ADPedKD consortium

مصطلحات موضوعية: Autosomal dominant polycystic kidney disease, Pediatric, Human health sciences :: Pediatrics, Sciences de la santé humaine :: Pédiatrie

جغرافية الموضوع: international

Relation: European Society of Pediatric Nephrology, 53rd Congress, 2021 (Du 16 au 19 septembre 2021)

URL الوصول: https://orbi.uliege.be/handle/2268/268110

المؤلفون: Roman-Ulrich Müller, A. Lianne Messchendorp, Henrik Birn, Giovambattista Capasso, Emilie Cornec-Le Gall, Olivier Devuyst, Albertien van Eerde, Patrick Guirchoun, Tess Harris, Ewout J. Hoorn, Nine V.A.M. Knoers, Uwe Korst, Djalila Mekahli, Yannick Le Meur, Tom Nijenhuis, Albert C.M. Ong, John A. Sayer, Franz Schaefer, Aude Servais, Vladimir Tesar, Roser Torra, Stephen B. Walsh and Ron T. Gansevoort

المصدر: Počki, Vol 11, Iss 1, Pp 37-39 (2022)

مصطلحات موضوعية: Diseases of the genitourinary system. Urology, RC870-923

وصف الملف: electronic resource

Relation: https://kidneys.zaslavsky.com.ua/index.php/journal/article/view/357; https://doaj.org/toc/2307-1257; https://doaj.org/toc/2307-1265

URL الوصول: https://doaj.org/article/3f3763f45a78472d9048eb2d6d9503c1

المؤلفون: Thomas Opladen, Florian Gleich, Viktor Kozich, Maurizio Scarpa, Diego Martinelli, Franz Schaefer, Kathrin Jeltsch, Natalia Juliá-Palacios, Ángels García-Cazorla, Carlo Dionisi-Vici, Stefan Kölker

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)

مصطلحات موضوعية: Unified european registry for inherited metabolic diseases, U-IMD, Inherited metabolic diseases, European infrastructure for rare diseases, ERDRI, European reference network for rare hereditary metabolic disorders, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/dee0fd6aaa314f7da4ba7910516c3f76

المؤلفون: Biswanath Basu, Stella Preussler, Anja Sander, T. K. S. Mahapatra, Franz Schaefer

المصدر: BMC Nephrology, Vol 21, Iss 1, Pp 1-11 (2020)

مصطلحات موضوعية: Rituximab, Mycophenolate-Mofetil, Childhood nephrotic syndrome, Steroid dependent nephrotic syndrome, Diseases of the genitourinary system. Urology, RC870-923

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2369

URL الوصول: https://doaj.org/article/6dae4c5fd7e6476186cd703d6c1331da

المؤلفون: Haitham Abaza, Dennis Kadioglu, Simona Martin, Andri Papadopoulou, Bruna dos Santos Vieira, Franz Schaefer, Holger Storf

المصدر: JMIR Medical Informatics, Vol 10, Iss 5, p e32158 (2022)

مصطلحات موضوعية: Computer applications to medicine. Medical informatics, R858-859.7

وصف الملف: electronic resource

Relation: https://medinform.jmir.org/2022/5/e32158; https://doaj.org/toc/2291-9694

URL الوصول: https://doaj.org/article/f7b48dcaa46e4728b9284808ea3564fc

المؤلفون: Dorothee Oberdhan, Franz Schaefer, Jason C. Cole, Andrew C. Palsgrove, Ann Dandurand, Lisa Guay-Woodford

المصدر: Kidney Medicine, Vol 4, Iss 3, Pp 100415- (2022)

مصطلحات موضوعية: Adolescent, autosomal dominant, autosomal dominant polycystic kidney disease, cystic, disease burden, patient-reported outcome, Diseases of the genitourinary system. Urology, RC870-923

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2590059522000115; https://doaj.org/toc/2590-0595

URL الوصول: https://doaj.org/article/ea3fc631ef394a19b277bb08cd289102

المؤلفون: Benedikt Fels, Arne Beyer, Violeta Cazaña-Pérez, Teresa Giraldez, Juan Navarro-González, Diego Alvarez de la Rosa, Franz Schaefer, Aysun Bayazit, Łukasz Obrycki, Bruno Ranchin, Johannes Holle, Uwe Querfeld, Kristina Kusche-Vihrog

المصدر: International Journal of Molecular Sciences; Volume 23; Issue 18; Pages: 10659

مصطلحات موضوعية: endothelium, glycocalyx, mineralocorticoid receptor, ENaC, chronic kidney disease

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Pathology, Diagnostics, and Therapeutics; https://dx.doi.org/10.3390/ijms231810659

الاتاحة: https://doi.org/10.3390/ijms231810659