Zobrazeno 1 - 10
of 506
pro vyhledávání: '"Ropers, Hans‐Hilger"'
Autor:
Jensen, Lars R., Garrett, Lillian, Hölter, Sabine M., Rathkolb, Birgit, Rácz, Ildikó, Adler, Thure, Prehn, Cornelia, Hans, Wolfgang, Rozman, Jan, Becker, Lore, Aguilar-Pimentel, Juan Antonio, Puk, Oliver, Moreth, Kristin, Dopatka, Monika, Walther, Diego J., von Bohlen und Halbach, Viola, Rath, Matthias, Delatycki, Martin, Bert, Bettina, Fink, Heidrun, Blümlein, Katharina, Ralser, Markus, Van Dijck, Anke, Kooy, Frank, Stark, Zornitza, Müller, Sabine, Scherthan, Harry, Gecz, Jozef, Wurst, Wolfgang, Wolf, Eckhard, Zimmer, Andreas, Klingenspor, Martin, Graw, Jochen, Klopstock, Thomas, Busch, Dirk, Adamski, Jerzy, Fuchs, Helmut, Gailus-Durner, Valérie, de Angelis, Martin Hrabě, von Bohlen und Halbach, Oliver, Ropers, Hans-Hilger, Kuss, Andreas W.
Publikováno v:
In BBA - Molecular Basis of Disease 1 September 2019 1865(9):2083-2093
Autor:
Hemberger, Myriam, Cross, James C., Ropers, Hans-Hilger, Lehrach, Hans, Fundele, Reinald, Himmelbauer, Heinz
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, 2001 Nov 01. 98(23), 13126-13131.
Externí odkaz:
https://www.jstor.org/stable/3057051
Autor:
Schweiger, Susann, Foerster, John, Lehmann, Tanja, Suckow, Vanessa, Muller, Yves A., Walter, Gerald, Davies, Theresa, Porter, Helen, van Bokhoven, Hans, Lunt, Peter W., Traub, Peter, Ropers, Hans-Hilger
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, 1999 Mar . 96(6), 2794-2799.
Externí odkaz:
https://www.jstor.org/stable/47442
Autor:
Nair, Divya, Li, Dong, Erdogan, Hannah, Yoon, Andrew, Harr, Margaret H., Bergant, Gaber, Peterlin, Borut, Pušenjak, Maruša Škrjanec, Jayakar, Parul, Pfundt, Rolph, Jansen, Sandra, McWalter, Kirsty, Sidhu, Alpa, Saliganan, Sheila, Agolini, Emanuele, Jacob, Arthur, Pasquier, Jennifer, Arash, Rafii, Kahrizi, Kimia, Najmabadi, Hossein, Ropers, Hans-Hilger, Bhoj, Elizabeth J.
Publikováno v:
Human Genetics and Genomics Advances, 3(4):100122. Cell Press
Nair, D, Li, D, Erdogan, H, Yoon, A, Harr, M H, Bergant, G, Peterlin, B, Pušenjak, M Š, Jayakar, P, Pfundt, R, Jansen, S, McWalter, K, Sidhu, A, Saliganan, S, Agolini, E, Jacob, A, Pasquier, J, Arash, R, Kahrizi, K, Najmabadi, H, Ropers, H-H & Bhoj, E J 2022, ' Erratum : Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3 (Human Genetics and Genomics Advances (2021) 2(2), (S2666247721000051), (10.1016/j.xhgg.2021.100024)) ', Human Genetics and Genomics Advances, vol. 3, no. 4, 100122 . https://doi.org/10.1016/j.xhgg.2022.100122
Nair, D, Li, D, Erdogan, H, Yoon, A, Harr, M H, Bergant, G, Peterlin, B, Pušenjak, M Š, Jayakar, P, Pfundt, R, Jansen, S, McWalter, K, Sidhu, A, Saliganan, S, Agolini, E, Jacob, A, Pasquier, J, Arash, R, Kahrizi, K, Najmabadi, H, Ropers, H-H & Bhoj, E J 2022, ' Erratum : Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3 (Human Genetics and Genomics Advances (2021) 2(2), (S2666247721000051), (10.1016/j.xhgg.2021.100024)) ', Human Genetics and Genomics Advances, vol. 3, no. 4, 100122 . https://doi.org/10.1016/j.xhgg.2022.100122
(Human Genetics and Genomics Advances 2, 100024; April 8, 2021) Patients 3-1 and 3-2 (siblings) were tested at GeneDx. They were compound heterozygous for p.Arg1472Glu and c.3434del p.Lys1145fs∗7. However c.3434del p.Lys1145fs∗7 was noted as p.Le
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::1c9b1d9e64915d2b2faf7bde0da5457b
https://research.vumc.nl/en/publications/d1081a11-50ae-4e00-89a7-db8f8dfe0bee
https://research.vumc.nl/en/publications/d1081a11-50ae-4e00-89a7-db8f8dfe0bee
Autor:
Pak, ChangHui, Garshasbi, Masoud, Kahrizi, Kimia, Gross, Christina, Apponi, Luciano H., Noto, John J., Kelly, Seth M., Leung, Sara W., Tzschach, Andreas, Behjati, Farkhondeh, Abedini, Seyedeh Sedigheh, Mohseni, Marzieh, Jensen, Lars R., Hu, Hao, Huang, Brenda, Stahley, Sara N., Liu, Guanglu, Williams, Kathryn R., Burdick, Sharon, Feng, Yue, Sanyal, Subhabrata, Bassell, Gary J., Ropers, Hans-Hilger, Najmabadi, Hossein, Corbett, Anita H., Moberg, Kenneth H., Kuss, Andreas W.
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, 2011 Jul . 108(30), 12390-12395.
Externí odkaz:
https://www.jstor.org/stable/27979012
Autor:
Pouya, Ali Reza, Abedini, Seyedeh Sedigheh, Mansoorian, Neda, Behjati, Farkhondeh, Nikzat, Nooshin, Mohseni, Marzieh, Nieh, Sahar Esmaeeli, Abbasi Moheb, Lia, Darvish, Hossein, Monajemi, Gholamreza Bahrami, Banihashemi, Susan, Kahrizi, Kimia, Ropers, Hans Hilger, Najmabadi, Hossein
Publikováno v:
In European Journal of Medical Genetics 2009 52(4):170-173
Autor:
Bashiardes, Stavros, Kousoulidou, Ludmila, van Bokhoven, Hans, Ropers, Hans-Hilger, Chelly, Jamel, Moraine, Claude, de Brouwer, Arjan P.M., Van Esch, Hilde, Froyen, Guy, Patsalis, Philippos C.
Publikováno v:
In The Journal of Molecular Diagnostics 2009 11(6):562-568
Autor:
van der Maarel, Silvère M., Bitner-Glindzicz, Maria, Huber, Irene, Monaco, Anthony P., Malcolm, Susan, Pembrey, Marcus E., Ropers, Hans-Hilger
Publikováno v:
Science, 1995 Feb 01. 267(5198), 685-688.
Externí odkaz:
https://www.jstor.org/stable/2885951
Autor:
Wieringa, Bé, Collins, Francis S., Sankila, Eeva-Marja, Siu, Victoria M., Flintoff, Wayne F., Brunsmann, Frank, Ropers, Hans-Hilger
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, 1989 Oct 01. 86(19), 7510-7514.
Externí odkaz:
https://www.jstor.org/stable/34676
Autor:
Kousoulidou, Ludmila, Parkel, Sven, Zilina, Olga, Palta, Priit, Puusepp, Helen, Remm, Maido, Turner, Gillian, Boyle, Jackie, van Bokhoven, Hans, de Brouwer, Arjan, Van Esch, Hilde, Froyen, Guy, Ropers, Hans-Hilger, Chelly, Jamel, Moraine, Claude, Gecz, Jozef, Kurg, Ants, Patsalis, Philippos C.
Publikováno v:
In European Journal of Medical Genetics 2007 50(6):399-410