المؤلفون: Stoll, Susanna, Unger, Sheila, Azzarello-Burri, Silvia, Chappuis, Pierre, Graffeo, Rossella, Pichert, Gabriella, Röthlisberger, Benno, Taban, Francois, Riniker, Salome

المصدر: Stoll, Susanna; Unger, Sheila; Azzarello-Burri, Silvia; Chappuis, Pierre; Graffeo, Rossella; Pichert, Gabriella; Röthlisberger, Benno; Taban, Francois; Riniker, Salome (2021). Update Swiss guideline for counselling and testing for predisposition to breast, ovarian, pancreatic and prostate cancer. Swiss Medical Weekly, 151:w30038.

مصطلحات موضوعية: Institute of Medical Genetics, 570 Life sciences, biology, 610 Medicine & health, BRCA1, BRCA2, genetic counselling

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/219353/1/smw_151_w30038.pdf; info:pmid/34519462; urn:issn:1424-3997

الاتاحة: https://www.zora.uzh.ch/id/eprint/219353/
https://www.zora.uzh.ch/id/eprint/219353/1/smw_151_w30038.pdf
https://doi.org/10.4414/SMW.2021.w30038

المؤلفون: Vavassori, Stefano, Galson, Jacob D, Trück, Johannes, van den Berg, Anke, Tamminga, Rienk Y J, Magerus-Chatinet, Aude, Pellé, Olivier, Camenisch Gross, Ulrike, Marques Maggio, Ewerton, Prader, Seraina, Opitz, Lennart, Nüesch, Ursina, Mauracher, Andrea A, Volkmer, Benjamin, Speer, Oliver, Suda, Luzia, Röthlisberger, Benno, Zimmermann, Dieter Robert, Müller, Rouven, Diepstra, Arjan, Visser, Lydia, Haralambieva, Eugenia, Neven, Benedicte, Rieux-Laucat, Frédéric, Pachlopnik Schmid, Jana

المصدر: Vavassori, Stefano; Galson, Jacob D; Trück, Johannes; van den Berg, Anke; Tamminga, Rienk Y J; Magerus-Chatinet, Aude; Pellé, Olivier; Camenisch Gross, Ulrike; Marques Maggio, Ewerton; Prader, Seraina; Opitz, Lennart; Nüesch, Ursina; Mauracher, Andrea A; Volkmer, Benjamin; Speer, Oliver; Suda, Luzia; Röthlisberger, Benno; Zimmermann, Dieter Robert; Müller, Rouven; Diepstra, Arjan; Visser, Lydia; Haralambieva, Eugenia; Neven, Benedicte; Rieux-Laucat, Frédéric; Pachlopnik Schmid, Jana (2017). Lymphadenopathy driven by TCR-Vγ8Vδ1 T-cell expansion in FAS-related autoimmune lymphoproliferative syndrome. Blood Advances, 1(15):1101-1106.

مصطلحات موضوعية: Clinic for Oncology and Hematology, Medical Clinic, Institute of Pathology and Molecular Pathology, 610 Medicine & health

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/140626/1/Vavassori_et_al_2017.pdf; info:pmid/29296752; urn:issn:2473-9529

الاتاحة: https://www.zora.uzh.ch/id/eprint/140626/
https://www.zora.uzh.ch/id/eprint/140626/1/Vavassori_et_al_2017.pdf
https://doi.org/10.1182/bloodadvances.2017006411

المؤلفون: Capoluongo, Ettore, Ellison, Gillian, López-Guerrero, José Antonio, Penault-Llorca, Frederique, Ligtenberg, Marjolijn J L, Banerjee, Susana, Singer, Christian, Friedman, Eitan, Markiefka, Birgid, Schirmacher, Peter, Büttner, Reinhard, van Asperen, Christi J, Ray-Coquard, Isabelle, Endris, Volker, Kamel-Reid, Suzanne, Percival, Natalie, Bryce, Jane, Röthlisberger, Benno, Soong, Richie, de Castro, David Gonzalez

المصدر: Capoluongo , E , Ellison , G , López-Guerrero , J A , Penault-Llorca , F , Ligtenberg , M J L , Banerjee , S , Singer , C , Friedman , E , Markiefka , B , Schirmacher , P , Büttner , R , van Asperen , C J , Ray-Coquard , I , Endris , V , Kamel-Reid , S , Percival , N , Bryce , J , Röthlisberger , B , Soong , R & de Castro , D G 2017 , ' Guidance Statement On BRCA1/2 Tumor Testing in Ovarian Cancer Patients ....

مصطلحات موضوعية: BRCA1 Protein, BRCA2 Protein, Female, Genetic Testing, Germ-Line Mutation, Hereditary Breast and Ovarian Cancer Syndrome, Humans, Ovarian Neoplasms, Phthalazines, Piperazines, Poly(ADP-ribose) Polymerase Inhibitors, Practice Guidelines as Topic, Journal Article, Review, /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being

وصف الملف: application/pdf

الاتاحة: https://pure.qub.ac.uk/en/publications/47fa1be9-ecaa-4a30-9413-84f17e6d1b01
https://doi.org/10.1053/j.seminoncol.2017.08.004
https://pureadmin.qub.ac.uk/ws/files/153249105/1_s2.0_S0093775417300520_main.pdf

المؤلفون: Ellison, Gillian, Ahdesmäki, Miika, Luke, Sally, Waring, Paul M, Wallace, Andrew, Wright, Ronnie, Röthlisberger, Benno, Ludin, Katja, Merkelbach-Bruse, Sabine, Heydt, Carina, Ligtenberg, Marjolijn J L, Mensenkamp, Arjen R, de Castro, David Gonzalez, Jones, Thomas, Vivancos, Ana, Kondrashova, Olga, Pauwels, Patrick, Weyn, Christine, Hahnen, Eric, Hauke, Jan, Soong, Richie, Lai, Zhongwu, Dougherty, Brian, Carr, T Hedley, Johnson, Justin, Mills, John, Barrett, J Carl

المصدر: Ellison , G , Ahdesmäki , M , Luke , S , Waring , P M , Wallace , A , Wright , R , Röthlisberger , B , Ludin , K , Merkelbach-Bruse , S , Heydt , C , Ligtenberg , M J L , Mensenkamp , A R , de Castro , D G , Jones , T , Vivancos , A , Kondrashova , O , Pauwels , P , Weyn , C , Hahnen , E , Hauke , J , Soong , R , Lai , Z , Dougherty , B , Carr ....

مصطلحات موضوعية: Journal Article, /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being

وصف الملف: application/pdf

الاتاحة: https://pure.qub.ac.uk/en/publications/d0b0013b-e554-4792-b0b0-23d1f5c363e6
https://doi.org/10.1002/humu.23375
https://pureadmin.qub.ac.uk/ws/files/140846569/Ellison_et_al_2017_Human_Mutation.pdf

المؤلفون: Mertz, Kirsten D., Bisig, Bettina, Azzarello-Burri, Silvia, Rauch, Anita, Röthlisberger, Benno, de Laval, Laurence, Cathomas, Gieri, Terracciano, Luigi, Jochum, Wolfram, Perren, Aurel, Moch, Holger, Wild, Peter, Heinimann, Karel

المصدر: Swiss Medical Forum ‒ Schweizerisches Medizin-Forum ; volume 17, issue 38 ; ISSN 1424-4020 1424-3784

الاتاحة: http://dx.doi.org/10.4414/smf.2017.03056
https://doi.emh.ch/smf.2017.03056

المؤلفون: Mertz, Kirsten D., Bisig, Bettina, Azzarello-Burri, Silvia, Rauch, Anita, Röthlisberger, Benno, de Laval, Laurence, Cathomas, Gieri, Terracciano, Luigi, Jochum, Wolfram, Perren, Aurel, Moch, Holger, Wild, Peter, Heinimann, Karel

المصدر: Forum Médical Suisse ‒ Swiss Medical Forum ; volume 17, issue 38 ; ISSN 1661-6146 1661-6138

الاتاحة: http://dx.doi.org/10.4414/fms.2017.03056
https://doi.emh.ch/fms.2017.03056

المؤلفون: Lindert, Uschi, Cabral, Wayne A, Ausavarat, Surasawadee, Tongkobpetch, Siraprapa, Ludin, Katja, Barnes, Aileen M, Yeetong, Patra, Weis, Maryann, Krabichler, Birgit, Srichomthong, Chalurmpon, Makareeva, Elena N, Janecke, Andreas R, Leikin, Sergey, Röthlisberger, Benno, Rohrbach, Marianne, Kennerknecht, Ingo, Eyre, David R, Suphapeetiporn, Kanya, Giunta, Cecilia, Marini, Joan C, Shotelersuk, Vorasuk

المصدر: Lindert, Uschi; Cabral, Wayne A; Ausavarat, Surasawadee; Tongkobpetch, Siraprapa; Ludin, Katja; Barnes, Aileen M; Yeetong, Patra; Weis, Maryann; Krabichler, Birgit; Srichomthong, Chalurmpon; Makareeva, Elena N; Janecke, Andreas R; Leikin, Sergey; Röthlisberger, Benno; Rohrbach, Marianne; Kennerknecht, Ingo; Eyre, David R; Suphapeetiporn, Kanya; Giunta, Cecilia; Marini, Joan C; Shotelersuk, Vorasuk (2016). MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta. Nature Communications, 7:11920.

مصطلحات موضوعية: Medical Clinic, 610 Medicine & health

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/132352/1/ncomms11920.pdf; info:pmid/27380894; urn:issn:2041-1723

الاتاحة: https://www.zora.uzh.ch/id/eprint/132352/
https://www.zora.uzh.ch/id/eprint/132352/1/ncomms11920.pdf
https://doi.org/10.1038/ncomms11920

المؤلفون: Strunk, Daniela, Weber, Peter, Röthlisberger, Benno, Filges, Isabel

المصدر: Molecular Cytogenetics ; volume 9, issue 1 ; ISSN 1755-8166

الاتاحة: http://dx.doi.org/10.1186/s13039-016-0299-8
http://link.springer.com/content/pdf/10.1186/s13039-016-0299-8.pdf

المؤلفون: Barbey, Florence, Meister, Marc, Röthlisberger, Benno, Neuhaus, Thomas J.

المصدر: Forum Médical Suisse ‒ Swiss Medical Forum ; volume 16, issue 16 ; ISSN 1661-6146 1661-6138

الاتاحة: http://dx.doi.org/10.4414/fms.2016.02623
https://doi.emh.ch/fms.2016.02623

المؤلفون: Meienberg, Janine, Zerjavic, Katja, Keller, Irene, Okoniewski, Michal, Patrignani, Andrea, Ludin, Katja, Xu, Zhenyu, Steinmann, Beat, Carrel, Thierry, Röthlisberger, Benno, Schlapbach, Ralph, Bruggmann, Rémy, Matyas, Gabor

المصدر: Meienberg, Janine; Zerjavic, Katja; Keller, Irene; Okoniewski, Michal; Patrignani, Andrea; Ludin, Katja; Xu, Zhenyu; Steinmann, Beat; Carrel, Thierry; Röthlisberger, Benno; Schlapbach, Ralph; Bruggmann, Rémy; Matyas, Gabor (2015). New insights into the performance of human whole-exome capture platforms. Nucleic Acids Research, 43(11):e76.

مصطلحات موضوعية: Functional Genomics Center Zurich, Zurich Center for Integrative Human Physiology (ZIHP), 570 Life sciences, biology, 610 Medicine & health

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/120430/1/gkv216.pdf; info:pmid/25820422; urn:issn:0305-1048

الاتاحة: https://www.zora.uzh.ch/id/eprint/120430/
https://www.zora.uzh.ch/id/eprint/120430/1/gkv216.pdf
https://doi.org/10.1093/nar/gkv216

المؤلفون: Ehret, Julia K., Engels, Hartmut, Cremer, Kirsten, Becker, Jessica, Zimmermann, Johannes P., Wohlleber, Eva, Grasshoff, Ute, Rossier, Eva, Bonin, Michael, Mangold, Elisabeth, Bevot, Andrea, Schön, Stefanie, Heilmann-Heimbach, Stefanie, Dennert, Nicola, Mathieu-Dramard, Michèle, Lacaze, Elodie, Plessis, Ghislaine, de Broca, Alain, Jedraszak, Guillaume, Röthlisberger, Benno, Miny, Peter, Filges, Isabel, Dufke, Andreas, Andrieux, Joris, Lee, Jennifer A., Zink, Alexander M.

المساهمون: BMBF

المصدر: Molecular Cytogenetics ; volume 8, issue 1 ; ISSN 1755-8166

الاتاحة: http://dx.doi.org/10.1186/s13039-015-0178-8
http://link.springer.com/content/pdf/10.1186/s13039-015-0178-8.pdf
http://link.springer.com/article/10.1186/s13039-015-0178-8/fulltext.html
http://link.springer.com/content/pdf/10.1186/s13039-015-0178-8

المؤلفون: Von Kanel, Thomas, Röthlisberger, Benno, Schanz, Urs, Dutly, Fabrizio, Huber, Andreas R., Saller, Elisabeth

المصدر: American Journal of Hematology ; volume 88, issue 2, page 158-159 ; ISSN 0361-8609 1096-8652

الاتاحة: http://dx.doi.org/10.1002/ajh.23364
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajh.23364
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajh.23364

المؤلفون: Filges, Isabel, Shimojima, Keiko, Okamoto, Nobuhiko, Röthlisberger, Benno, Weber, Peter, Huber, Andreas R, Nishizawa, Tsutomu, Datta, Alexandre N, Miny, Peter, Yamamoto, Toshiyuki

مصطلحات موضوعية: Original article

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/48/2/117; http://dx.doi.org/10.1136/jmg.2010.084582

الاتاحة: http://jmg.bmj.com/cgi/content/short/48/2/117
https://doi.org/10.1136/jmg.2010.084582

المؤلفون: Vogler, Christian, Gschwind, Leo, Röthlisberger, Benno, Huber, Andreas, Filges, Isabel, Miny, Peter, Auschra, Bianca, Stetak, Attila, Demougin, Philippe, Vukojevic, Vanja, Quervain, Dominique J.-F. de, Papassotiropoulos, Andreas, Kolassa, Iris-Tatjana, Elbert, Thomas

المصدر: PLoS ONE. 2010, 5(12), e15246. Available under: doi:10.1371/journal.pone.0015246

مصطلحات موضوعية: ddc:150

وصف الملف: application/pdf

Relation: http://nbn-resolving.de/urn:nbn:de:bsz:352-134636; http://dx.doi.org/10.1371/journal.pone.0015246; 344926567

الاتاحة: http://nbn-resolving.de/urn:nbn:de:bsz:352-134636
https://doi.org/10.1371/journal.pone.0015246

المؤلفون: Ehret, Julia, Engels, Hartmut, Cremer, Kirsten, Becker, Jessica, Zimmermann, Johannes, Wohlleber, Eva, Grasshoff, Ute, Rossier, Eva, Bonin, Michael, Mangold, Elisabeth, Bevot, Andrea, Schön, Stefanie, Heilmann-Heimbach, Stefanie, Dennert, Nicola, Mathieu-Dramard, Michèle, Lacaze, Elodie, Plessis, Ghislaine, de Broca, Alain, Jedraszak, Guillaume, Röthlisberger, Benno, Miny, Peter, Filges, Isabel, Dufke, Andreas, Andrieux, Joris, Lee, Jennifer, Zink, Alexander

مصطلحات موضوعية: Microdeletion 9q33.3-q34.11, Intellectual disability, STXBP1, Contiguous gene syndrome, Haploinsufficiency

Relation: http://www.molecularcytogenetics.org/content/8/1/72

الاتاحة: http://www.molecularcytogenetics.org/content/8/1/72

المؤلفون: Röthlisberger, Benno, Huber, Andreas, Bargetzi, Mario, Mendez, Adriana, Heizmann, Marc

المصدر: Leukemia & Lymphoma ; volume 49, issue 3, page 586-588 ; ISSN 1042-8194 1029-2403

الاتاحة: http://dx.doi.org/10.1080/10428190701861652
http://www.tandfonline.com/doi/pdf/10.1080/10428190701861652

المؤلفون: Ingold, Barbara, Moschopulos, Michael, Hutter, Gregor, Seeger, Harald, Röthlisberger, Benno, Landolt, Hans, Yonekawa, Yasuhiro, Jochum, Wolfram, Heppner, Frank L

المصدر: Ingold, Barbara; Moschopulos, Michael; Hutter, Gregor; Seeger, Harald; Röthlisberger, Benno; Landolt, Hans; Yonekawa, Yasuhiro; Jochum, Wolfram; Heppner, Frank L (2006). Abdominal seeding of an atypical teratoid/rhabdoid tumor of the pineal gland along a ventriculoperitoneal shunt catheter. Acta Neuropathologica, 111(1):56-59.

مصطلحات موضوعية: 610 Medicine & health

Time: 142-005

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/155717/1/ZORA_NL_155717.pdf; urn:issn:0001-6322

الاتاحة: https://www.zora.uzh.ch/id/eprint/155717/
https://www.zora.uzh.ch/id/eprint/155717/1/ZORA_NL_155717.pdf

المؤلفون: Röthlisberger, Benno, Herklotz, Roberto, Hergersberg, Martin, Stricker, Christian, Bargetzi, Mario, Huber, Andreas R

المصدر: Leukemia & Lymphoma ; volume 45, issue 6, page 1119-1121 ; ISSN 1042-8194 1029-2403

الاتاحة: http://dx.doi.org/10.1080/10428190310001625845
http://www.tandfonline.com/doi/pdf/10.1080/10428190310001625845

المؤلفون: Röthlisberger, Benno, Zerova, Tatjana E, Kotzot, Dieter, Buzhievskaya, Tamara I, Balmer, Damina, Schinzel, Albert

مصطلحات موضوعية: Letters to the editor

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/38/12/885; http://dx.doi.org/10.1136/jmg.38.12.885

الاتاحة: http://jmg.bmj.com/cgi/content/short/38/12/885
https://doi.org/10.1136/jmg.38.12.885

المؤلفون: Kotzot, Dieter, Röthlisberger, Benno, Riegel, Mariluce, Schinzel, Albert

مصطلحات موضوعية: Letters to the editor

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/38/12/876; http://dx.doi.org/10.1136/jmg.38.12.876

الاتاحة: http://jmg.bmj.com/cgi/content/short/38/12/876
https://doi.org/10.1136/jmg.38.12.876