-
1دورية أكاديمية
المؤلفون: Katharina Lemberg, Nils D. Mertens, Kirollos Yousef, Ronen Schneider, Lea M. Merz, Bshara Mansour, Daanya Salmanullah, Caroline M. Kolvenbach, Ken Saida, Seyoung Yu, Selina Hölzel, Andrew Steinsapir, Kevin A. Goncalves, Camille Nicolas Frank, Gijs A. C. Franken, Shirlee Shril, Florian Buerger, Friedhelm Hildebrandt
المصدر: Scientific Reports, Vol 14, Iss 1, Pp 1-9 (2024)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2045-2322
-
2دورية أكاديمية
المؤلفون: Jil D. Stegmann, Jeshurun C. Kalanithy, Gabriel C. Dworschak, Nina Ishorst, Enrico Mingardo, Filipa M. Lopes, Yee Mang Ho, Phillip Grote, Tobias T. Lindenberg, Öznur Yilmaz, Khadija Channab, Steve Seltzsam, Shirlee Shril, Friedhelm Hildebrandt, Felix Boschann, André Heinen, Angad Jolly, Katherine Myers, Kim McBride, Mir Reza Bekheirnia, Nasim Bekheirnia, Marcello Scala, Manuela Morleo, Vincenzo Nigro, Annalaura Torella, TUDP consortium, Michele Pinelli, Valeria Capra, Andrea Accogli, Silvia Maitz, Alice Spano, Rory J. Olson, Eric W. Klee, Brendan C. Lanpher, Se Song Jang, Jong-Hee Chae, Philipp Steinbauer, Dietmar Rieder, Andreas R. Janecke, Julia Vodopiutz, Ida Vogel, Jenny Blechingberg, Jennifer L. Cohen, Kacie Riley, Victoria Klee, Laurence E. Walsh, Matthias Begemann, Miriam Elbracht, Thomas Eggermann, Arzu Stoppe, Kyra Stuurman, Marjon van Slegtenhorst, Tahsin Stefan Barakat, Maureen S. Mulhern, Tristan T. Sands, Cheryl Cytrynbaum, Rosanna Weksberg, Federica Isidori, Tommaso Pippucci, Giulia Severi, Francesca Montanari, Michael C. Kruer, Somayeh Bakhtiari, Hossein Darvish, Heiko Reutter, Gregor Hagelueken, Matthias Geyer, Adrian S. Woolf, Jennifer E. Posey, James R. Lupski, Benjamin Odermatt, Alina C. Hilger
المصدر: npj Genomic Medicine, Vol 9, Iss 1, Pp 1-12 (2024)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2056-7944
-
3دورية أكاديمية
المؤلفون: Maria Nowak-Ciołek, Michał Ciołek, Agnieszka Tomaszewska, Friedhelm Hildebrandt, Thomas Kitzler, Konstantin Deutsch, Katharina Lemberg, Shirlee Shril, Maria Szczepańska, Agnieszka Zachurzok
المصدر: Frontiers in Endocrinology, Vol 15 (2024)
مصطلحات موضوعية: Bardet-Biedl syndrome, BBS, obesity, genetics, rare diseases, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
-
4دورية أكاديمية
المؤلفون: Yask Gupta, David J. Friedman, Michelle T. McNulty, Atlas Khan, Brandon Lane, Chen Wang, Juntao Ke, Gina Jin, Benjamin Wooden, Andrea L. Knob, Tze Y. Lim, Gerald B. Appel, Kinsie Huggins, Lili Liu, Adele Mitrotti, Megan C. Stangl, Andrew Bomback, Rik Westland, Monica Bodria, Maddalena Marasa, Ning Shang, David J. Cohen, Russell J. Crew, William Morello, Pietro Canetta, Jai Radhakrishnan, Jeremiah Martino, Qingxue Liu, Wendy K. Chung, Angelica Espinoza, Yuan Luo, Wei-Qi Wei, Qiping Feng, Chunhua Weng, Yilu Fang, Iftikhar J. Kullo, Mohammadreza Naderian, Nita Limdi, Marguerite R. Irvin, Hemant Tiwari, Sumit Mohan, Maya Rao, Geoffrey K. Dube, Ninad S. Chaudhary, Orlando M. Gutiérrez, Suzanne E. Judd, Mary Cushman, Leslie A. Lange, Ethan M. Lange, Daniel L. Bivona, Miguel Verbitsky, Cheryl A. Winkler, Jeffrey B. Kopp, Dominick Santoriello, Ibrahim Batal, Sérgio Veloso Brant Pinheiro, Eduardo Araújo Oliveira, Ana Cristina Simoes e Silva, Isabella Pisani, Enrico Fiaccadori, Fangming Lin, Loreto Gesualdo, Antonio Amoroso, Gian Marco Ghiggeri, Vivette D. D’Agati, Riccardo Magistroni, Eimear E. Kenny, Ruth J. F. Loos, Giovanni Montini, Friedhelm Hildebrandt, Dirk S. Paul, Slavé Petrovski, David B. Goldstein, Matthias Kretzler, Rasheed Gbadegesin, Ali G. Gharavi, Krzysztof Kiryluk, Matthew G. Sampson, Martin R. Pollak, Simone Sanna-Cherchi
المصدر: Nature Communications, Vol 14, Iss 1, Pp 1-8 (2023)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
-
5دورية أكاديمية
المؤلفون: Konstantin Deutsch, Verena Klämbt, Thomas M. Kitzler, Tilman Jobst-Schwan, Ronen Schneider, Florian Buerger, Steve Seltzsam, Sherif El Desoky, Jameela A. Kari, Farkhanda Hafeez, Maria Szczepańska, Loai A. Eid, Hazem S. Awad, Muna Al-Saffar, Neveen A. Soliman, Velibor Tasic, Camille Nicolas-Frank, Kirollos Yousef, Luca M. Schierbaum, Sophia Schneider, Abdul Halawi, Izzeldin Elmubarak, Katharina Lemberg, Shirlee Shril, Shrikant M. Mane, Nancy Rodig, Friedhelm Hildebrandt
المصدر: Genes and Diseases, Vol 11, Iss 5, Pp 101111- (2024)
مصطلحات موضوعية: Medicine (General), R5-920, Genetics, QH426-470
وصف الملف: electronic resource
-
6دورية أكاديمية
المؤلفون: Dong Yun Kim, Yu Jin Sub, Hye-Youn Kim, Kyeong Jee Cho, Won Il Choi, Yo Jun Choi, Min Goo Lee, Friedhelm Hildebrandt, Heon Yung Gee
المصدر: Cell Communication and Signaling, Vol 21, Iss 1, Pp 1-14 (2023)
مصطلحات موضوعية: Motile cilia, Primary ciliary dyskinesia, LRRC6, FOXJ1, Nuclear translocation, Medicine, Cytology, QH573-671
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1478-811X
-
7دورية أكاديمية
المؤلفون: Alexandra Barry, Michelle T. McNulty, Xiaoyuan Jia, Yask Gupta, Hanna Debiec, Yang Luo, China Nagano, Tomoko Horinouchi, Seulgi Jung, Manuela Colucci, Dina F. Ahram, Adele Mitrotti, Aditi Sinha, Nynke Teeninga, Gina Jin, Shirlee Shril, Gianluca Caridi, Monica Bodria, Tze Y. Lim, Rik Westland, Francesca Zanoni, Maddalena Marasa, Daniel Turudic, Mario Giordano, Loreto Gesualdo, Riccardo Magistroni, Isabella Pisani, Enrico Fiaccadori, Jana Reiterova, Silvio Maringhini, William Morello, Giovanni Montini, Patricia L. Weng, Francesco Scolari, Marijan Saraga, Velibor Tasic, Domenica Santoro, Joanna A. E. van Wijk, Danko Milošević, Yosuke Kawai, Krzysztof Kiryluk, Martin R. Pollak, Ali Gharavi, Fangmin Lin, Ana Cristina Simœs e Silva, Ruth J. F. Loos, Eimear E. Kenny, Michiel F. Schreuder, Aleksandra Zurowska, Claire Dossier, Gema Ariceta, Magdalena Drozynska-Duklas, Julien Hogan, Augustina Jankauskiene, Friedhelm Hildebrandt, Larisa Prikhodina, Kyuyoung Song, Arvind Bagga, Hae Cheong, Gian Marco Ghiggeri, Prayong Vachvanichsanong, Kandai Nozu, Dongwon Lee, Marina Vivarelli, Soumya Raychaudhuri, Katsushi Tokunaga, Simone Sanna-Cherchi, Pierre Ronco, Kazumoto Iijima, Matthew G. Sampson
المصدر: Nature Communications, Vol 14, Iss 1, Pp 1-13 (2023)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
-
8دورية أكاديمية
المؤلفون: Chen-Han Wilfred Wu, Tze Y. Lim, Chunyan Wang, Steve Seltzsam, Bixia Zheng, Luca Schierbaum, Sophia Schneider, Nina Mann, Dervla M. Connaughton, Makiko Nakayama, Amelie T. van der Ven, Rufeng Dai, Caroline M. Kolvenbach, Franziska Kause, Isabel Ottlewski, Natasa Stajic, Neveen A. Soliman, Jameela A. Kari, Sherif El Desoky, Hanan M. Fathy, Danko Milosevic, Daniel Turudic, Muna Al Saffar, Hazem S. Awad, Loai A. Eid, Aravind Ramanathan, Prabha Senguttuvan, Shrikant M. Mane, Richard S. Lee, Stuart B. Bauer, Weining Lu, Alina C. Hilger, Velibor Tasic, Shirlee Shril, Simone Sanna-Cherchi, Friedhelm Hildebrandt
المصدر: European Urology Open Science, Vol 44, Iss , Pp 106-112 (2022)
مصطلحات موضوعية: Congenital anomalies of the kidney and urinary tract, Vesicoureteral reflux, Copy number variation, Whole-exome sequencing, Monogenic disease causation, Renal developmental, Diseases of the genitourinary system. Urology, RC870-923, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
وصف الملف: electronic resource
-
9دورية أكاديمية
المؤلفون: Chih-Chuan Yu, An-Fu Lee, Stefen Kohl, Ming-Yen Lin, Siao Muk Cheng, Chi-Chih Hung, Jer-Ming Chang, Yi-Wen Chiu, Shang-Jyh Hwang, Edgar A. Otto, Friedhelm Hildebrandt, Taiwan PKD Consortium, Daw-Yang Hwang
المصدر: npj Genomic Medicine, Vol 7, Iss 1, Pp 1-11 (2022)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2056-7944
-
10دورية أكاديمية
المؤلفون: Seyoung Yu, Yo Jun Choi, John Hoon Rim, Hye-Youn Kim, Nasim Bekheirnia, Sarah Jane Swartz, Hongzheng Dai, Shen Linda Gu, Soyeon Lee, Ryuichi Nishinakamura, Friedhelm Hildebrandt, Mir Reza Bekheirnia, Heon Yung Gee
المصدر: Frontiers in Medicine, Vol 10 (2023)
مصطلحات موضوعية: Nephronophthisis-related ciliopathy, ADAMTS9, kidney organoid, single-cell RNA sequencing, podocytes, Medicine (General), R5-920
وصف الملف: electronic resource