المؤلفون: Menzel, Michael, Martis-Thiele, Mihaela, Goldschmid, Hannah, Ott, Alexander, Romanovsky, Eva, Siemanowski-Hrach, Janna, Seillier, Lancelot, Brüchle, Nadina Ortiz, Maurer, Angela, Lehmann, Kjong-Van, Stenzinger, Albrecht

المساهمون: Menzel, Michael, Martis-Thiele, Mihaela, Goldschmid, Hannah, Ott, Alexander, Romanovsky, Eva, Siemanowski-Hrach, Janna, Seillier, Lancelot, Brüchle, Nadina Ortiz, Maurer, Angela, Lehmann, Kjong-Van, Stenzinger, Albrecht

Relation: S0959804924009626

الاتاحة: https://resolver.sub.uni-goettingen.de/purl?gro-2/145841
https://doi.org/10.1016/j.ejca.2024.114306

المؤلفون: Dreyer, Verena J., Shi, Jia Xin, Rose, Michael, Onyuro, Maureen T., Steib, Florian, Hilgers, Lars, Seillier, Lancelot, Dietrich, Jana, Riese, Janik, Meurer, Steffen K., Weiskirchen, Ralf, Neumann, Ulf, Heij, Lara, Luedde, Tom, Loosen, Sven H., Lurje, Isabella, Lurje, Georg, Gaisa, Nadine T., Jonigk, Danny, Bednarsch, Jan, Dahl, Edgar, Brüchle, Nadina Ortiz

المصدر: Dreyer , V J , Shi , J X , Rose , M , Onyuro , M T , Steib , F , Hilgers , L , Seillier , L , Dietrich , J , Riese , J , Meurer , S K , Weiskirchen , R , Neumann , U , Heij , L , Luedde , T , Loosen , S H , Lurje , I , Lurje , G , Gaisa , N T , Jonigk , D , Bednarsch , J , Dahl , E & Brüchle , N O 2024 , ' High Expression ....

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

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/52c758a3-0787-4bac-860f-0b40e42c1bf2
https://doi.org/10.3390/cancers16213647
https://pure.eur.nl/ws/files/173388988/cancers-16-03647-v4.pdf
http://www.scopus.com/inward/record.url?scp=85208379681&partnerID=8YFLogxK

المؤلفون: Schueler, Markus, Braun, Daniela A, Chandrasekar, Gayathri, Gee, Heon Yung, Klasson, Timothy D., Halbritter, Jan, Bieder, Andrea, Porath, Jonathan D, Airik, Rannar, Zhou, Weibin, LoTurco, Joseph J, Che, Alicia, Otto, Edgar A, Böckenhauer, Detlef, Sebire, Neil J, Honzik, Tomas, Harris, Peter C, Koon, Sarah J, Gunay-Aygun, Meral, Saunier, Sophie, Zerres, Klaus, Bruechle, Nadina Ortiz, Drenth, Joost P H, Pelletier, Laurence, Tapia-Páez, Isabel, Lifton, Richard P, Giles, R, Kere, Juha, Hildebrandt, Friedhelm

المساهمون: Nefro Vasculaire Geneeskunde, Regenerative Medicine and Stem Cells, Circulatory Health

مصطلحات موضوعية: Adaptor Proteins, Signal Transducing, Animals, Cilia, Computational Biology, Exons, HEK293 Cells, Humans, Kidney, Kidney Diseases, Cystic, Mice, Microscopy, Electron, Transmission, Microtubule-Associated Proteins, Mutation, NIH 3T3 Cells, Phenotype, Phosphoproteins, Wnt Signaling Pathway, Zebrafish, beta Catenin, Journal Article, Research Support, N.I.H., Extramural, Non-U.S. Gov't

وصف الملف: image/pdf

Relation: https://dspace.library.uu.nl/handle/1874/332916

الاتاحة: https://dspace.library.uu.nl/handle/1874/332916

المؤلفون: Bergmann, Carsten, Fliegauf, Manfred, Brüchle, Nadina Ortiz, Frank, Valeska, Olbrich, Heike, Kirschner, Jan, Schermer, Bernhard, Schmedding, Ingolf, Kispert, Andreas, Kränzlin, Bettina, Nürnberg, Gudrun, Becker, Christian, Grimm, Tiemo, Girschick, Gundula, Lynch, Sally A., Kelehan, Peter, Senderek, Jan, Neuhaus, Thomas J., Stallmach, Thomas, Zentgraf, Hanswalter, Nürnberg, Peter, Gretz, Norbert, Lo, Cecilia, Lienkamp, Soeren, Schäfer, Tobias, Walz, Gerd, Benzing, Thomas, Zerres, Klaus, Omran, Heymut

المصدر: The American Journal of Human Genetics ; volume 82, issue 4, page 959-970 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2008.02.017
https://api.elsevier.com/content/article/PII:S0002929708002097?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929708002097?httpAccept=text/plain

المؤلفون: Brüchle, Nadina Ortiz, Frank, Jorge, Frank, Valeska, Senderek, Jan, Akar, Ahmet, Koc, Erol, Rigopoulos, Dimitris, van Steensel, Maurice, Zerres, Klaus, Bergmann, Carsten

المصدر: Journal of Investigative Dermatology ; volume 128, issue 4, page 791-796 ; ISSN 0022-202X

الاتاحة: http://dx.doi.org/10.1038/sj.jid.5701088
https://api.elsevier.com/content/article/PII:S0022202X1533815X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0022202X1533815X?httpAccept=text/plain

المؤلفون: Erger, Florian, Bruechle, Nadina Ortiz, Gembruch, Ulrich, Zerres, Klaus

مصطلحات موضوعية: ddc:no

Relation: Erger, Florian orcid:0000-0002-2768-1702 , Bruechle, Nadina Ortiz, Gembruch, Ulrich orcid:0000-0001-8284-4669 and Zerres, Klaus (2017). Prenatal ultrasound, genotype, and outcome in a large cohort of prenatally affected patients with autosomal-recessive polycystic kidney disease and other hereditary cystic kidney diseases. Arch. Gynecol. Obstet., 295 (4). S. 897 - 907. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 1432-0711

الاتاحة: https://kups.ub.uni-koeln.de/23546/

المؤلفون: Sachwitz, Jana, Meyer, Robert, Fekete, György, Spranger, Stephanie, Matulevičienė, Aušra, Kučinskas, Vaidutis, Bach, Alexia, Luczay, Andrea, Brüchle, Nadina Ortiz, Eggermann, Katja, Zerres, Klaus, Elbracht, Miriam, Eggermann, Thomas

المصدر: Clinical Genetics, Hoboken, NJ : Wiley-Blackwell Publishing, Inc., 2017, Vol. 91, Iss. 1, p. 73-78 ; ISSN 0009-9163 ; eISSN 1399-0004

مصطلحات موضوعية: Silver-Russell syndrome, copy number variations, Temple syndrome, NSD1 duplication

Relation: http://vu.lvb.lt/VU:ELABAPDB16029077&prefLang=en_US

الاتاحة: http://vu.lvb.lt/VU:ELABAPDB16029077&prefLang=en_US

المؤلفون: Morin, Gilles, Bruechle, Nadina Ortiz, Singh, Amrathlal Rabbind, Knopp, Cordula, Jedraszak, Guillaume, Elbracht, Miriam, Bremond-Gignac, Dominique, Hartmann, Kathi, Sevestre, Henri, Deutz, Peter, Herent, Didier, Nuernberg, Peter, Romeo, Bernard, Konrad, Kerstin, Mathieu-Dramard, Michele, Oldenburg, Johannes, Bourges-Petit, Elisabeth, Shen, Yuequan, Zerres, Klaus, Ouadid-Ahidouch, Halima, Rochette, Jacques

مصطلحات موضوعية: ddc:no

Relation: Morin, Gilles, Bruechle, Nadina Ortiz, Singh, Amrathlal Rabbind, Knopp, Cordula, Jedraszak, Guillaume, Elbracht, Miriam, Bremond-Gignac, Dominique, Hartmann, Kathi, Sevestre, Henri, Deutz, Peter, Herent, Didier, Nuernberg, Peter, Romeo, Bernard, Konrad, Kerstin orcid:0000-0001-9039-2615 , Mathieu-Dramard, Michele, Oldenburg, Johannes, Bourges-Petit, Elisabeth, Shen, Yuequan, Zerres, Klaus, Ouadid-Ahidouch, Halima and Rochette, Jacques (2014). Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome. Hum. Mutat., 35 (10). S. 1221 - 1233. HOBOKEN: WILEY-BLACKWELL. ISSN 1098-1004

الاتاحة: https://kups.ub.uni-koeln.de/42806/

المؤلفون: Morin, Gilles, Bruechle, Nadina Ortiz, Singh, Amrathlal Rabbind, Knopp, Cordula, Jedraszak, Guillaume, Elbracht, Miriam, Bremond-Gignac, Dominique, Hartmann, Kathi, Sevestre, Henri, Deutz, Peter, Herent, Didier, Nuernberg, Peter, Romeo, Bernard, Konrad, Kerstin, Mathieu-Dramard, Michele, Oldenburg, Johannes, Bourges-Petit, Elisabeth, Shen, Yuequan, Zerres, Klaus, Ouadid-Ahidouch, Halima, Rochette, Jacques

مصطلحات موضوعية: ddc:no

Relation: Morin, Gilles, Bruechle, Nadina Ortiz, Singh, Amrathlal Rabbind, Knopp, Cordula, Jedraszak, Guillaume, Elbracht, Miriam, Bremond-Gignac, Dominique, Hartmann, Kathi, Sevestre, Henri, Deutz, Peter, Herent, Didier, Nuernberg, Peter, Romeo, Bernard, Konrad, Kerstin orcid:0000-0001-9039-2615 , Mathieu-Dramard, Michele, Oldenburg, Johannes, Bourges-Petit, Elisabeth, Shen, Yuequan, Zerres, Klaus, Ouadid-Ahidouch, Halima and Rochette, Jacques (2014). Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome (vol 35, pg 1221, 2014). Hum. Mutat., 35 (12). S. 1542 - 1543. HOBOKEN: WILEY-BLACKWELL. ISSN 1098-1004

الاتاحة: https://kups.ub.uni-koeln.de/42196/

المؤلفون: Nefro Vasculaire Geneeskunde, Regenerative Medicine and Stem Cells, Circulatory Health, Schueler, Markus, Braun, Daniela A, Chandrasekar, Gayathri, Gee, Heon Yung, Klasson, Timothy D., Halbritter, Jan, Bieder, Andrea, Porath, Jonathan D, Airik, Rannar, Zhou, Weibin, LoTurco, Joseph J, Che, Alicia, Otto, Edgar A, Böckenhauer, Detlef, Sebire, Neil J, Honzik, Tomas, Harris, Peter C, Koon, Sarah J, Gunay-Aygun, Meral, Saunier, Sophie, Zerres, Klaus, Bruechle, Nadina Ortiz, Drenth, Joost P H, Pelletier, Laurence, Tapia-Páez, Isabel, Lifton, Richard P, Giles, R, Kere, Juha, Hildebrandt, Friedhelm

URL: https://doi.org/10.1016/j.ajhg.2014.12.002
http://hdl.handle.net/1874/332916
https://dspace.library.uu.nl/handle/1874/332916
0002-9297
American Journal of Human Genetics
96
1
81
92

المؤلفون: Bergman, Carsten, Zerres, Klaus, Balci, Sevim, Teksen, Fulya, Grimm, Tiemo, Kubisch, Christian, Todt, Unda, Besbas, Nesrin, Senderek, Jan, Seidel, Heide, Debatin, Irmgard, Du Bois, Gabriele, Bohring, Axel, Frints, Susanna G. M., Mager, Silke, Bruechle, Nadina Ortiz, Frank, Valeska

الاتاحة: https://doi.org/10.1002/humu.9496
https://avesis.hacettepe.edu.tr/publication/details/a7cc04af-b02a-4128-96b9-8e2a346c5a47/oai

المؤلفون: Bergmann, Carsten, von Bothmer, Jennifer, Bruechle, Nadina Ortiz, Venghaus, Andreas, Frank, Valeska, Fehrenbach, Henry, Hampel, Tobias, Pape, Lars, Buske, Annegret, Jonsson, Jon, Sarioglu, Nanette, Santos, Antonia, Ferreira, Jose Carlos, Becker, Jan U., Cremer, Reinhold, Hoefele, Julia, Benz, Marcus R., Weber, Lutz T., Buettner, Reinhard, Zerres, Klaus

مصطلحات الفهرس: ddc:no, doc-type:article, publishedVersion

URL: https://kups.ub.uni-koeln.de/48585/
https://kups.ub.uni-koeln.de/48585
10.1681/ASN.2010101080