المؤلفون: Erger, F., Aryal, R.P., Reusch, B., Matsumoto, Y., Meyer, R., Zeng, J., Knopp, C., Noel, M., Muerner, L., Wenzel, A., Kohl, S., Tschernoster, N., Rappl, G., Rouvet, I., Schröder-Braunstein, J., Seibert, F.S., Thiele, H., Häusler, M.G., Weber, L.T., Büttner-Herold, M., Elbracht, M., Cummings, S.F., Altmüller, J., Habbig, S., Cummings, R.D., Beck, B.B.

مصطلحات موضوعية: Technology Platforms, Topic 1: Genes, Cells and Cell-Based Medicine

وصف الملف: application/pdf; other

العلاقة: http://edoc.mdc-berlin.de/23378/1/23378oa.pdfTest; http://edoc.mdc-berlin.de/23378/7/23378suppl.zipTest; Germline C1GALT1C1 mutation causes a multisystem chaperonopathy. Erger, F. and Aryal, R.P. and Reusch, B. and Matsumoto, Y. and Meyer, R. and Zeng, J. and Knopp, C. and Noel, M. and Muerner, L. and Wenzel, A. and Kohl, S. and Tschernoster, N. and Rappl, G. and Rouvet, I. and Schröder-Braunstein, J. and Seibert, F.S. and Thiele, H. and Häusler, M.G. and Weber, L.T. and Büttner-Herold, M. and Elbracht, M. and Cummings, S.F. and Altmüller, J. and Habbig, S. and Cummings, R.D. and Beck, B.B. Proceedings of the National Academy of Sciences of the United States of America 120 (22): e2211087120. 30 May 2023

الإتاحة: https://doi.org/10.1073/pnas.2211087120Test
http://edoc.mdc-berlin.de/23378Test/
https://edoc.mdc-berlin.de/23378Test/
http://edoc.mdc-berlin.de/23378/1/23378oa.pdfTest
http://edoc.mdc-berlin.de/23378/7/23378suppl.zipTest

المؤلفون: Hooman, N., Licht, C., Pańczyk-Tomaszewska, M., Gökçe, I., Fila, M., Seeman, T., Zurowska, Aleksandra, Drozynska-Duklas, Magdalena, TOPALOĞLU, REZAN, Bouts, Antonia, Boyer, Olivia, Shenoy, Mohan, Vivarelli, Marina, Feldkötter, M., Santos, F., Shasha-Lavsky, H., Becherucci, F., Alpay, H., Andersen, R., Herthelius, M., Pecoraro, C., Petrosyan, E., Peruzzi, L., Ariceta, G., Atmış, B., Bayrakçı, U.S., Esrea, B., Baudouin, V., Bervina, N., Benetti, E., Berard, E., Bjerre, A., Christian, M., Couderc, A., Dehoorne, J., Deschenes, G., Dossier, C., Düşünsel, R., Ekinci, Z., Emma, F., Grima, D., Espinoza, L., Gianviti, A., Herrero Goñi, M., Guido, G., Ghio, L., Groothoff, J., Hacıhamdioğlu, D.Ö., Espino Hernández, M., Jankauskiene, A., Kagan, M., Kemper, M., Kovacevic, M., Kohl, S., Kramar, R.T., López-González, M., Aris, A.M., Maringhini, S., Harambat, J., Printza, N., Prikhodina, L., Pietrement, C., Rittig, S., Rodrigo, D., Savenkova, N., Saraga, M., Dinçel, N., Marlais, M., Melgosa, M., Mitsioni, A., Montini, G., Moczulska, A., Murer, L., Obukhova, V., Oh, J., Ortega, P., Özçakar, Z.B., Ulinski, T., Pasini, A., Sever, F.L., Papalia, T., Paunova, S., Brandström, P., Vara-Martín, J., Stabouli, S., Bekassy, Z., Pena, A., Ehren, R., Novo, R., van Wijk, J.A.E., Schreuder, M., Szczepanska, M., Tasic, V., Tonshoff, B., Tullus, K., Vara, J., Vande Walle, J., Volokhina, E., Zieg, J., Waters, A., Weber, L.T., Webbe, N., Wasiak, M., Endén, K., Tsygin, A., Grenda, R., Van Hoeck Koen, J.M., Adams, B., Aksenova, M., Ranchin, B., Teixeira, A., Ogarek, I., Mir, S., Oni, L., Schmidt, I.M., Raes, A.

العلاقة: 59e912ff-e03c-4ced-9f42-dcbd415a3e78; https://avesis.hacettepe.edu.tr/publication/details/59e912ff-e03c-4ced-9f42-dcbd415a3e78/oaiTest

الإتاحة: https://doi.org/10.1007/s00467-023-05913-1Test
https://avesis.hacettepe.edu.tr/publication/details/59e912ff-e03c-4ced-9f42-dcbd415a3e78/oaiTest

المؤلفون: Malakasioti, G., Iancu, D., Milovanova, A., Tsygin, A., Horinouchi, T., Nagano, C., Nozu, K., Kamei, K., Fujinaga, S., Iijima, K., Kang, H.G., Sinha, R., Basu, B., Morello, W., Montini, G., Waters, A., Boyer, O., Yıldırım, Z.Y., Yel, S., Dursun, İ., McCarthy, H.J., Vivarelli, M., Prikhodina, L., Besouw, MTP, Chan, E.Y., Huang, W., Kemper, M.J., Loos, S., Prestidge, C., Wong, W., Zlatanova, G., Ehren, R., Weber, L.T., Chehade, H., Hooman, N., Tkaczyk, M., Stańczyk, M., Miligkos, M., Tullus, K.

المساهمون: CNI in Monogenic SRNS Study Investigators, Malakasioti, G., Iancu, D., Milovanova, A., Tsygin, A., Nozu, K., Kamei, K., Fujinaga, S., Iijima, K., Sinha, R., Basu, B., Morello, W., Montini, G., Waters, A., Boyer, O., Yıldırım, Z.Y., Yel, S., Dursun, İ., McCarthy, H.J., Vivarelli, M., Prikhodina, L., Besouw, MTP, Chan, E.Y., Huang, W., Kemper, M.J., Loos, S., Prestidge, C., Wong, W., Zlatanova, G., Ehren, R., Weber, L.T., Chehade, H., Hooman, N., Tkaczyk, M., Stańczyk, M., Tullus, K., Martins, V.H., Camilla, R., Gianoglio, B., Maxted, A., Tsimaratos, M., Alpay, H., Said-Conti, V., Meglič, A., Bresso, P., Coccia, P., Mitsioni, A., Yap, Y.C.

المصدر: Kidney international, vol. 105, no. 1, pp. 213-214

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38182294; info:eu-repo/semantics/altIdentifier/eissn/1523-1755; https://serval.unil.ch/notice/serval:BIB_9B197AE371DBTest; urn:issn:0085-2538

الإتاحة: https://doi.org/10.1016/j.kint.2023.10.006Test
https://serval.unil.ch/notice/serval:BIB_9B197AE371DBTest

المؤلفون: Bontuis, Marjolein, Berta, L., Heindl-Rusai, K., Gessner, Michaela, Erez, Daniella Levy, Lopez-Baez, Victor, Madrid, Alvaro, Marks, Stephen, Melk, Anette, Murer, Luisa, Peruzzi, Licia, Goni, Maria Herrero, Ghio, Luciana, Esfandiar, Nasrin, Petrosyan, Edita, Preka, Evgenia, Printza, Nikoleta, Rachisan, Andreea Liana, Raes, Ann, Soylemezoglu, Oguz, Strologo, Luca Dello, Teixeira, Ana, Topaloglu, Rezan, Weitz, Markus, Zieg, Jakub, Zlatanova, Galia, Duzova, Ali, Cornelissen, Marlies, Christian, Martin, Bouts, Antonia, Robroeks, Charlotte Bootsma, Bonthuis, Marjolein, Bakkaloğlu, Sevcan, Awan, Atif, Ariceta, Gema, Tönshoff, Burkhard, Sellier-Leclerc, Anne-Laure, Shenoy, Mohan, Pape, Lars, Pohl, M., Pape, L., Oh, J., Müller, D., Lange-Sperandio, B., König, J., Klaus, G., John, U., Hempel, C., Hansen, M., Haffner, D., Fehrenbach, H., Bald, M., Arslan, Zainab, Wallace, Dean, Vidal, Enrico, Verrina, Enrico, Tondel, Camilla, Oh, Jun, Nalçacıoğlu, Hülya, Döven, Serra Sürmeli, Stabouli, Stella, Sever, Fatma Lale, Kranz, Birgitta, BÜYÜKKARAGÖZ, BAHAR, Kanzelmeyer, Nele, Guzzo, Isabella, Grenda, Ryszard, Benetti, Elisa, Bacchetta, Justine, Krupka, Kai, van Gremberghe, Ineke, Shroff, Rukshana, Prytula, Agnieszka, Patry, Christian, Harambat, Jerome, Ağbaş, Ayşe, Schön, Anne, Schmitt, Claus Peter, Schaefer, Franz, Reusz, George, Pietrement, Christine, Ozkaya, Ozan, Matteucci, Chiara, Sauerstein, K., Schalk, G., Staude, H., Strotmann, P., Weber, L.T., Manish, Sinha, Leifheit-Nestler, Maren, Lalayiannis, Alexander, Koster-Kamphuis, Linda, Klaus, Guenter, Guido, Giuliana, Groothoff, Jaap, Weitz, M., Kamphuis, Linda Koster, Dursun, Ismail, Drozdz, Dorota, Dizazzo, Giacomo, Dehoux, Laurene, Booth, Caroline, Askiti, Varvara, Avramescu, Marina, Bakkaloglu, Sevcan, Hongsawong, Nattaphorn, Hogan, Julien, Bayazit, Aysun Karabay, Aksoy, Gülşah Kaya, Knops, Noel

العلاقة: 5867d2a0-2440-4a2a-b2e3-0ad4f603e951; https://avesis.gazi.edu.tr/publication/details/5867d2a0-2440-4a2a-b2e3-0ad4f603e951/oaiTest

الإتاحة: https://doi.org/10.1016/j.ekir.2024.04.007Test
https://avesis.gazi.edu.tr/publication/details/5867d2a0-2440-4a2a-b2e3-0ad4f603e951/oaiTest

المؤلفون: Coens, Ferran, Knops, Noël, Tieken, Ineke, Vogelaar, Serge, Bender, Andreas, Kim, Jon Jin, Krupka, Kai, Pape, Lars, Raes, Ann, Tönshoff, Burkhard, Prytula, Agnieszka, Bald, M., Fehrenbach, H., Haffner, D., Hansen, M., Hempel, C., John, U., Klaus, G., König, J., Lange-Sperandio, B., Müller, D., Oh, J., Pape, L., Pohl, M., Sauerstein, K., Schalk, G., Staude, H., Strotmann, P., Weber, L.T., Weitz, M., Berta, L., Heindl-Rusai, K.

المصدر: Clinical Journal of The American Society of Nephrology; March 2024, Vol. 19 Issue: 3 p345-354, 10p

المؤلفون: Fabretti, F., Tschernoster, N., Erger, F., Hedergott, A., Buescher, A.K., Dafinger, C., Reusch, B., Köntges, V.K., Kohl, S., Bartram, M.P., Weber, L.T., Thiele, H., Altmueller, J., Schermer, B., Beck, B.B., Habbig, S.

مصطلحات موضوعية: Technology Platforms

وصف الملف: application/pdf

العلاقة: http://edoc.mdc-berlin.de/20508/1/20508oa.pdfTest; http://edoc.mdc-berlin.de/20508/7/20508suppl.pdfTest; Expanding the spectrum of FAT1 nephropathies by novel mutations that affect hippo signaling. Fabretti, F. and Tschernoster, N. and Erger, F. and Hedergott, A. and Buescher, A.K. and Dafinger, C. and Reusch, B. and Köntges, V.K. and Kohl, S. and Bartram, M.P. and Weber, L.T. and Thiele, H. and Altmueller, J. and Schermer, B. and Beck, B.B. and Habbig, S. Kidney International Reports 6 (5): 1368-1378. May 2021

الإتاحة: https://doi.org/10.1016/j.ekir.2021.01.023Test
http://edoc.mdc-berlin.de/20508Test/
https://edoc.mdc-berlin.de/20508Test/
http://edoc.mdc-berlin.de/20508/1/20508oa.pdfTest
http://edoc.mdc-berlin.de/20508/7/20508suppl.pdfTest

المؤلفون: Burgmaier, K., Ariceta, G., Bald, M., Buescher, A.K., Burgmaier, M., Erger, F., Gessner, M., Gokce, I., König, J., Kowalewska, C., Massella, L., Mastrangelo, A., Mekahli, D., Pape, L., Patzer, L., Potemkina, A., Schalk, G., Schild, R., Shroff, R., Szczepanska, M., Taranta-Janusz, K., Tkaczyk, M., Weber, L.T., Wühl, E., Wurm, D., Wygoda, S., Zagozdzon, I., Dötsch, J., Oh, J., Schaefer, F., Liebau, M.C., Eid, L.A., Arbeiter, K., Ranguelov, N., Collard, L., De Mul, A., Feldkoetter, M., Seeman, T., Thumfart, J., Grundmann, F., Galiano, M., Buchholz, B., Buescher, R., Häffner, K., Gross, O., Bernhardt, W., Doyon, A., Henn, M., Halbritter, J., Derichs, U., Klaus, G., Lange-Sperandio, B., Uetz, B., Benz, M., Titieni, A., Staude, H., Leichter, H.E., Soliman, N.A., Lara, L.E., de la Cerda Ojeda, F., Harambat, J., Ranchin, B., Fila, M., Dossier, C., Boyer, O., Marlais, M., Stabouli, S., Hooman, N., Mencarelli, F., Morello, W., Longo, G., Emma, F., Ruzgiene, D., Wasilewska, A., Balasz-Chmielewska, I., Miklaszewska, M., Stanczyk, M., Sikora, P., Litwin, M., Morawiec-Knysak, A., Teixeira, A., Milosevski-Lomic, G., Prikhodina, L., Rus, R., Jilani, H., Melek, E., Duzova, A., Soylu, A., Candan, C., Sever, L., Yilmaz, A., Cicek, N., Akinci, N., Mir, S., Dursun, I., Tabel, Y., Nalcacioglu, H., Group, ESCAPE Study, Group, GPN Study, The ARegPKD consortium, Dursun, Ismail, Tabe, Yilmaz

مصطلحات موضوعية: WJ Urogenital System

وصف الملف: text

العلاقة: http://eprints.iums.ac.ir/33682/1/Severe-neurological-outcomes-after-very-early-bilateral-nephrectomies-in-patients-with-autosomal-recessive-polycystic-kidney-disease-ARPKD2020Scientific-ReportsOpen-Access.pdfTest; Burgmaier, K. and Ariceta, G. and Bald, M. and Buescher, A.K. and Burgmaier, M. and Erger, F. and Gessner, M. and Gokce, I. and König, J. and Kowalewska, C. and Massella, L. and Mastrangelo, A. and Mekahli, D. and Pape, L. and Patzer, L. and Potemkina, A. and Schalk, G. and Schild, R. and Shroff, R. and Szczepanska, M. and Taranta-Janusz, K. and Tkaczyk, M. and Weber, L.T. and Wühl, E. and Wurm, D. and Wygoda, S. and Zagozdzon, I. and Dötsch, J. and Oh, J. and Schaefer, F. and Liebau, M.C. and Eid, L.A. and Arbeiter, K. and Ranguelov, N. and Collard, L. and De Mul, A. and Feldkoetter, M. and Seeman, T. and Thumfart, J. and Grundmann, F. and Galiano, M. and Buchholz, B. and Buescher, R. and Häffner, K. and Gross, O. and Bernhardt, W. and Doyon, A. and Henn, M. and Halbritter, J. and Derichs, U. and Klaus, G. and Lange-Sperandio, B. and Uetz, B. and Benz, M. and Titieni, A. and Staude, H. and Leichter, H.E. and Soliman, N.A. and Lara, L.E. and de la Cerda Ojeda, F. and Harambat, J. and Ranchin, B. and Fila, M. and Dossier, C. and Boyer, O. and Marlais, M. and Stabouli, S. and Hooman, N. and Mencarelli, F. and Morello, W. and Longo, G. and Emma, F. and Ruzgiene, D. and Wasilewska, A. and Balasz-Chmielewska, I. and Miklaszewska, M. and Stanczyk, M. and Sikora, P. and Litwin, M. and Morawiec-Knysak, A. and Teixeira, A. and Milosevski-Lomic, G. and Prikhodina, L. and Rus, R. and Jilani, H. and Melek, E. and Duzova, A. and Soylu, A. and Candan, C. and Sever, L. and Yilmaz, A. and Cicek, N. and Akinci, N. and Mir, S. and Dursun, I. and Tabel, Y. and Nalcacioglu, H. and Group, ESCAPE Study and Group, GPN Study and The ARegPKD consortium, and Dursun, Ismail and Tabe, Yilmaz (2020) Severe neurological outcomes after very early bilateral nephrectomies in patients with autosomal recessive polycystic kidney disease (ARPKD). Scientific Reports, 10 (1).

الإتاحة: http://eprints.iums.ac.ir/33682Test/
http://eprints.iums.ac.ir/33682/1/Severe-neurological-outcomes-after-very-early-bilateral-nephrectomies-in-patients-with-autosomal-recessive-polycystic-kidney-disease-ARPKD2020Scientific-ReportsOpen-Access.pdfTest

المؤلفون: Weber, L.T., Dötsch, J.

المصدر: Expert Review of Clinical Pharmacology ; volume 9, issue 8, page 1001-1003 ; ISSN 1751-2433 1751-2441

الإتاحة: https://doi.org/10.1080/17512433.2016.1193434Test

المؤلفون: Ehren, R., Schijvens, A.M., Hackl, A., Schreuder, M.F., Weber, L.T.

المصدر: Expert Opinion on Drug Metabolism & Toxicology, 17, 2, pp. 201-213

مصطلحات موضوعية: Radboudumc 11: Renal disorders RIMLS: Radboud Institute for Molecular Life Sciences

العلاقة: https://hdl.handle.net/2066/231550Test

الإتاحة: https://doi.org/10.1080/17425255.2021.1843633Test
https://hdl.handle.net/2066/231550Test

المؤلفون: Schreuder, M.F., Ehren, R., Weber, L.T.

المصدر: Jama Pediatrics, 175, 8, pp. 869-870

مصطلحات موضوعية: Radboudumc 11: Renal disorders RIMLS: Radboud Institute for Molecular Life Sciences

العلاقة: https://repository.ubn.ru.nl/handle/2066/237485Test; https://doi.org/10.1001/jamapediatrics.2021.1071Test

الإتاحة: https://doi.org/10.1001/jamapediatrics.2021.1071Test
https://repository.ubn.ru.nl/handle/2066/237485Test