نتائج البحث - "Pabst, Werner L."

1

Academic Journal

Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment

المؤلفون: Ashraf, Shazia, Kudo, Hiroki, Rao, Jia, Kikuchi, Atsuo, Widmeier, Eugen, Lawson, Jennifer A., Tan, Weizhen, Hermle, Tobias, Warejko, Jillian K., Shril, Shirlee, Airik, Merlin, Jobst-Schwan, Tilman, Lovric, Svjetlana, Braun, Daniela A., Gee, Heon Yung, Schapiro, David, Majmundar, Amar J., Sadowski, Carolin E., Pabst, Werner L., Daga, Ankana, Van Der Ven, Amelie T., Schmidt, Johanna M., Low, Boon Chuan, Gupta, Anjali Bansal, Tripathi, Brajendra K., Wong, Jenny, Campbell, Kirk, Metcalfe, Kay, Schanze, Denny, Niihori, Tetsuya, Kaito, Hiroshi, Nozu, Kandai, Tsukaguchi, Hiroyasu, Tanaka, Ryojiro, Hamahira, Kiyoshi, Kobayashi, Yasuko, Takizawa, Takumi, Funayama, Ryo, Nakayama, Keiko, Aoki, Yoko, Kumagai, Naonori, Iijima, Kazumoto, Fehrenbach, Henry, Kari, Jameela A., El Desoky, Sherif, Jalalah, Sawsan, Bogdanovic, Radovan, Stajić, Nataša, Zappel, Hildegard, Rakhmetova, Assel, Wassmer, Sharon Rose, Jungraithmayr, Therese, Strehlau, Juergen, Kumar, Aravind Selvin, Bagga, Arvind, Soliman, Neveen A., Mane, Shrikant M., Kaufman, Lewis, Lowy, Douglas R., Jairajpuri, Mohamad A., Lifton, Richard P., Pei, York, Zenker, Martin, Kure, Shigeo, Hildebrandt, Friedhelm

المصدر: Ashraf , S , Kudo , H , Rao , J , Kikuchi , A , Widmeier , E , Lawson , J A , Tan , W , Hermle , T , Warejko , J K , Shril , S , Airik , M , Jobst-Schwan , T , Lovric , S , Braun , D A , Gee , H Y , Schapiro , D , Majmundar , A J , Sadowski , C E , Pabst , W L , Daga , A , Van Der Ven , A T , Schmidt , J M , ....

Relation: https://research.manchester.ac.uk/en/publications/206e994b-30ce-4b73-ac97-078692863e61

الاتاحة: https://research.manchester.ac.uk/en/publications/206e994b-30ce-4b73-ac97-078692863e61
https://doi.org/10.1038/s41467-018-04193-w
http://www.scopus.com/inward/record.url?scp=85047275091&partnerID=8YFLogxK

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2

Academic Journal

Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome

المؤلفون: Ozaltin, FATİH, Hildebrandt, Friedhelm, Braun, Daniela A., Lifton, Richard P., Mane, Shrikant, Tasic, Velibor, Serdaroglu, Erkin, Buscher, Rainer, Podracka, Ludmila, Munarriz, Reyner Loza, Kemper, Markus, Fehrenbach, Henry, Ettenger, Robert, Chernin, Gil, Stajic, Natasa, Bogdanovic, Radovan, Bockenhauer, Detlef, Benador, Nadine, Kopp, Jeffrey B., Hopcian, Jeffrey, Hashmi, Seema, Cadnapaphornchai, Melissa A., Noyan, Aytul, Mueller, Dominik, Bakkaloglu, Sevcan A., Zenker, Martin, Fathy, Hanan, El Desoky, Sherif, Kari, Jameela A., Soliman, Neveen A., Traum, Avram Z., Ferguson, Michael A., Baum, Michelle, Daouk, Ghaleb, Rodig, Nancy M., Somers, Michael J. G., Nakayama, Makiko, Pabst, Werner L., Kohl, Stefan, Sadowski, Carolin E., Chen, Jing, Ityel, Hadas, van der Ven, Amelie T., Vivante, Asaf, Schmidt, J. Magdalena, Gee, Heon Yung, Schneider, Ronen, Majmundar, Amar J., Jobst-Schwan, Tilman, Hermle, Tobias, Rao, Jia, Ashraf, Shazia, Lovric, Svjetlana, Shril, Shirlee, Lawson, Jennifer A., Schapiro, David, Daga, Ankana, Tan, Weizhen, Warejko, Jillian K., Stein, Deborah R., Widmeier, Eugen

الاتاحة: https://doi.org/10.2215/cjn.04120417
https://avesis.hacettepe.edu.tr/publication/details/3d47d3cc-714a-40ec-94b2-2a70e3fe0288/oai

View record in BASE

3

Academic Journal

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

المؤلفون: Braun, Daniela A, Rao, Jia, Mollet, Geraldine, Schapiro, David, Daugeron, Marie-Claire, Tan, Weizhen, Gribouval, Olivier, Boyer, Olivia, Revy, Patrick, Jobst-Schwan, Tilman, Schmidt, Johanna Magdalena, Lawson, Jennifer A, Schanze, Denny, Ashraf, Shazia, Ullmann, Jeremy F P, Hoogstraten, Charlotte A, Boddaert, Nathalie, Collinet, Bruno, Martin, Gaëlle, Liger, Dominique, Lovric, Svjetlana, Furlano, Monica, Guerrera, I Chiara, Sanchez-Ferras, Oraly, Hu, Jennifer F, Boschat, Anne-Claire, Sanquer, Sylvia, Menten, Björn, Vergult, Sarah, De Rocker, Nina, Airik, Merlin, Hermle, Tobias, Shril, Shirlee, Widmeier, Eugen, Gee, Heon Yung, Choi, Won-Il, Sadowski, Carolin E, Pabst, Werner L, Warejko, Jillian K, Daga, Ankana, Basta, Tamara, Matejas, Verena, Scharmann, Karin, Kienast, Sandra D, Behnam, Babak, Beeson, Brendan, Begtrup, Amber, Bruce, Malcolm, Ch'ng, Gaik-Siew, Lin, Shuan-Pei, Chang, Jui-Hsing, Chen, Chao-Huei, Cho, Megan T, Gaffney, Patrick M, Gipson, Patrick E, Hsu, Chyong-Hsin, Kari, Jameela A, Ke, Yu-Yuan, Kiraly-Borri, Cathy, Lai, Wai-Ming, Lemyre, Emmanuelle, Littlejohn, Rebecca Okashah, Masri, Amira, Moghtaderi, Mastaneh, Nakamura, Kazuyuki, Ozaltin, Fatih, Praet, Marleen, Prasad, Chitra, Prytula, Agnieszka, Roeder, Elizabeth R, Rump, Patrick, Schnur, Rhonda E, Shiihara, Takashi, Sinha, Manish D, Soliman, Neveen A, Soulami, Kenza, Sweetser, David A, Tsai, Wen-Hui, Tsai, Jeng-Daw, Topaloglu, Rezan, Vester, Udo, Viskochil, David H, Vatanavicharn, Nithiwat, Waxler, Jessica L, Wierenga, Klaas J, Wolf, Matthias T F, Wong, Sik-Nin, Leidel, Sebastian A, Truglio, Gessica, Dedon, Peter C, Poduri, Annapurna, Mane, Shrikant, Lifton, Richard P, Bouchard, Maxime, Kannu, Peter, Chitayat, David, Magen, Daniella, Callewaert, Bert, van Tilbeurgh, Herman, Zenker, Martin, Antignac, Corinne, Hildebrandt, Friedhelm

المصدر: Braun , D A , Rao , J , Mollet , G , Schapiro , D , Daugeron , M-C , Tan , W , Gribouval , O , Boyer , O , Revy , P , Jobst-Schwan , T , Schmidt , J M , Lawson , J A , Schanze , D , Ashraf , S , Ullmann , J F P , Hoogstraten , C A , Boddaert , N , Collinet , B , Martin , G , Liger , D , Lovric , S , Furlano , M , Guerrera , I C , ....

مصطلحات موضوعية: UNFOLDED PROTEIN RESPONSE, TRANSFER-RNA MODIFICATION, GALLOWAY-MOWAT SYNDROME, GENOME MAINTENANCE, MASS-SPECTROMETRY, SECKEL-SYNDROME, YEAST, DNA, KINASE, WDR73