المؤلفون: Schmidt, J., Goergens, J., Pochechueva, T., Kotter, A., Schwenzer, N., Sitte, M., Werner, G., Altmueller, J., Thiele, H., Nürnberg, P., Isensee, J., Li, Y., Müller, C., Leube, B., Reinhardt, H.C., Hucho, T., Salinas, G., Helm, M., Jachimowicz, R.D., Wieczorek, D., Kohl, T., Lehnart, S.E., Yigit, G., Wollnik, B.

مصطلحات موضوعية: Technology Platforms, Topic 1: Genes, Cells and Cell-Based Medicine

وصف الملف: application/pdf; other

Relation: https://edoc.mdc-berlin.de/id/eprint/20951/1/20951oa.pdf; https://edoc.mdc-berlin.de/id/eprint/20951/7/20951suppl.zip; Biallelic variants in YRDC cause a developmental disorder with progeroid features. Schmidt, J., Goergens, J., Pochechueva, T., Kotter, A., Schwenzer, N., Sitte, M., Werner, G., Altmueller, J., Thiele, H., Nürnberg, P., Isensee, J., Li, Y., Müller, C., Leube, B., Reinhardt, H.C., Hucho, T., Salinas, G., Helm, M., Jachimowicz, R.D., Wieczorek, D., Kohl, T., Lehnart, S.E., Yigit, G. and Wollnik, B. Human Genetics 140 (12): 1679-1693. December 2021; PMID:34545459

الاتاحة: https://edoc.mdc-berlin.de/id/eprint/20951/
https://edoc.mdc-berlin.de/20951/
https://edoc.mdc-berlin.de/id/eprint/20951/1/20951oa.pdf
https://edoc.mdc-berlin.de/id/eprint/20951/7/20951suppl.zip

المؤلفون: Kaya, S, Leube, B, Stöhr, H, Guthoff, R

المصدر: 185. Versammlung des Vereins Rheinisch-Westfälischer Augenärzte; 20230127-20230128; Essen; DOC23rwa15 /20230203/

مصطلحات الفهرس: ddc: 610, conferenceObject

URL: http://nbn-resolving.de/urn:nbn:de:0183-23rwa155
http://www.egms.de/en/meetings/rwa2023/23rwa15.shtml

المؤلفون: Jacquemont, S, Reymond, A, Zufferey, F, Harewood, L, Walters, RG, Kutalik, Z, Martinet, D, Shen, YP, Valsesia, A, Beckmann, ND, Thorleifsson, G, Belfiore, M, Bouquillon, S, Campion, D, de Leeuw, N, de Vries, BBA, Esko, T, Fernandez, BA, Fernandez-Aranda, F, Fernandez-Real, JM, Gratacos, M, Guilmatre, A, Hoyer, J, Jarvelin, MR, Kooy, RF, Kurg, A, Le Caignec, C, Mannik, K, Platt, OS, Sanlaville, D, Van Haelst, MM, Gomez, SV, Walha, F, Wu, BL, Yu, YG, Aboura, A, Addor, MC, Alembik, Y, Antonarakis, SE, Arveiler, B, Barth, M, Bednarek, N, Bena, F, Bergmann, S, Beri, M, Bernardini, L, Blaumeiser, B, Bonneau, D, Bottani, A, Boute, O, Brunner, HG, Cailley, D, Callier, P, Chiesa, J, Chrast, J, Coin, L, Coutton, C, Cuisset, JM, Cuvellier, JC, David, A, de Freminville, B, Delobel, B, Delrue, MA, Demeer, B, Descamps, D, Didelot, G, Dieterich, K, Disciglio, V, Doco-Fenzy, M, Drunat, S, Duban-Bedu, B, Dubourg, C, Moustafa, JSE, Elliott, P, Faas, BHW, Faivre, L, Faudet, A, Fellmann, F, Ferrarini, A, Fisher, R, Flori, E, Forer, L, Gaillard, D, Gerard, M, Gieger, C, Gimelli, S, Gimelli, G, Grabe, HJ, Guichet, A, Guillin, O, Hartikainen, AL, Heron, D, Hippolyte, L, Holder, M, Homuth, G, Isidor, B, Jaillard, S, Jaros, Z, Jimenez-Murcia, S, Helas, GJ, Jonveaux, P, Kaksonen, S, Keren, B, Kloss-Brandstatter, A, Knoers, NVAM, Koolen, DA, Kroisel, PM, Kronenberg, F, Labalme, A, Landais, E, Lapi, E, Layet, V, Legallic, S, Leheup, B, Leube, B, Lewis, S, Lucas, J, MacDermot, KD, Magnusson, P, Marshall, C, Mathieu-Dramard, M, McCarthy, MI, Meitinger, T, Mencarelli, MA, Merla, G, Moerman, A, Mooser, V, Morice-Picard, F, Mucciolo, M, Nauck, M, Ndiaye, NC, Nordgren, A, Pasquier, L, Petit, F, Pfundt, R, Plessis, G, Rajcan-Separovic, E, Ramelli, GP, Rauch, A, Ravazzolo, R, Reis, A, Renieri, A, Richart, C, Ried, JS, Rieubland, C, Roberts, W, Roetzer, KM, Rooryck, C, Rossi, M, Saemundsen, E, Satre, V, Schurmann, C, Sigurdsson, E, Stavropoulos, DJ, Stefansson, H, Tengstrom, C, Thorsteinsdottir, U, Tinahones, FJ, Touraine, R, Vallee, L, van Binsbergen, E, Van der Aa, N, Vincent-Delorme, C, Visvikis-Siest, S, Vollenweider, P, Volzke, H, Vulto-van Silfhout, AT, Waeber, G, Wallgren-Pettersson, C, Witwicki, RM, Zwolinksi, S, Andrieux, J, Estivill, X, Gusella, JF, Gustafsson, O, Metspalu, A, Scherer, SW, Stefansson, K, Blakemore, AIF, Beckmann, JS, Froguel, P

المصدر: Nature. 478(7367):97-U111

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:123351294

المؤلفون: Loviglio, M. N, Leleu, M., Männik, K., Passeggeri, M., Giannuzzi, G., van der Werf, I., Waszak, S. M., Zazhytska, M., Roberts Caldeira, I., Gheldof, N., Migliavacca, E., Alfaiz, A. A., Hippolyte, L., Maillard, A. M., van Dijck, A., Kooy, R. F., Sanlaville, D., Rosenfeld, J. A., Shaffer, L. G., Andrieux, J., Marshall, C., Scherer, S. W., Shen, Y., Gusella, J. F., Thorsteinsdottir, U., Thorleifsson, G., Dermitzakis, E. T., Deplancke, B., Beckmann, J. S., Rougemont, J., Jacquemont, S., Reymond, A., Collaborators: Loviglio MN, Männik K, van der Werf I, Giannuzzi G, Zazhytska M, Gheldof N, Migliavacca E, Alfaiz AA, Roberts Caldeira I, Hippolyte L, Maillard AM, Ferrarini A, Butschi FN, Conrad B, Addor MC, Belfiore M, Roetzer K, Dijck AV, Blaumeiser B, Kooy F, Roelens F, Dheedene A, Chiaie BD, Menten B, Oostra A, Caberg JH, Carter M, Kellam B, Stavropoulos DJ, Marshall C, Scherer SW, Weksberg R, Cytrynbaum C, Bassett A, Lowther C, Gillis J, MacKay S, Bache I, Ousager LB, Smerdel MP, Graakjaer J, Kjaergaard S, Metspalu A, Mathieu M, Bonneau D, Guichet A, Parent P, Férec C, Gerard M, Plessis G, Lespinasse J, Masurel A, Marle N, Faivre L, Callier P, Layet V, Meur NL, Le Goff C, Duban Bedu B, Sukno S, Boute O, Andrieux J, Blanchet P, Geneviève D, Puechberty J, Schneider A, Leheup B, Jonveaux P, Mercier S, David A, Le Caignec C, de Pontual L, Pipiras E, Jacquette A, Keren B, Gilbert Dussardier B, Bilan F, Goldenberg A, Chambon P, Toutain A, Till M, Sanlaville D, Leube B, Royer Pokora B, Grabe HJ, Schmidt CO, Schurmann C, Homuth G, Thorleifsson G, Thorsteinsdottir U, Bernardini L, Novelli A, Micale L, Merla G, Zollino M, MARI, FRANCESCA, Rizzo CL, RENIERI, ALESSANDRA, Silengo M, Vulto van Silfhout AT, Schouten M, Pfundt R, de Leeuw N, Vansenne F, Maas SM, Barge Schaapveld DQ, Knegt AC, Stadheim B, Rodningen O, Houge G, Price S, Hawkes L, Campbell C, Kini U, Vogt J, Walters R, Blakemore A, Gusella JF, Shen Y, Scott D, Bacino CA, Tsuchiya K, Ladda R, Sell S, Asamoah A, Hamati AI, Rosenfeld JA, Shaffer LG, Mitchell E, Hodge JC, Beckmann JS, Jacquemont S, Reymond A, Ewans LJ, Mowat D, Walker J, Amor DJ, Esch HV, Leroy P, Bamforth JS, Babu D, Isidor B, DiDonato N, Hackmann K, Passeggeri M, Haeringen AV, Smith R, Ellingwood S, Farber DM, Puri V, Zadeh N, Weaver DD, Miller M, Wilks T, Jorgez CJ, Lafayette D, Jacquemont S.

المساهمون: Loviglio, M. N, Leleu, M., Männik, K., Passeggeri, M., Giannuzzi, G., van der Werf, I., Waszak, S. M., Zazhytska, M., Roberts Caldeira, I., Gheldof, N., Migliavacca, E., Alfaiz, A. A., Hippolyte, L., Maillard, A. M., van Dijck, A., Kooy, R. F., Sanlaville, D., Rosenfeld, J. A., Shaffer, L. G., Andrieux, J., Marshall, C., Scherer, S. W., Shen, Y., Gusella, J. F., Thorsteinsdottir, U., Thorleifsson, G., Dermitzakis, E. T., Deplancke, B., Beckmann, J. S., Rougemont, J., Jacquemont, S., Reymond, A., Collaborators: Loviglio, Mn, Männik, K, van der Werf, I, Giannuzzi, G, Zazhytska, M, Gheldof, N, Migliavacca, E, Alfaiz, Aa, Roberts Caldeira, I, Hippolyte, L, Maillard, Am, Ferrarini, A, Butschi, Fn, Conrad, B, Addor, Mc, Belfiore, M, Roetzer, K, Dijck, Av, Blaumeiser, B, Kooy, F, Roelens, F, Dheedene, A, Chiaie, Bd, Menten, B, Oostra, A, Caberg, Jh, Carter, M, Kellam, B, Stavropoulos, Dj, Marshall, C, Scherer, Sw, Weksberg, R, Cytrynbaum, C, Bassett, A, Lowther, C, Gillis, J, Mackay, S, Bache, I, Ousager, Lb, Smerdel, Mp, Graakjaer, J, Kjaergaard, S, Metspalu, A, Mathieu, M, Bonneau, D, Guichet, A, Parent, P, Férec, C, Gerard, M, Plessis, G, Lespinasse, J, Masurel, A, Marle, N, Faivre, L, Callier, P, Layet, V, Meur, Nl, Le Goff, C, Duban Bedu, B, Sukno, S, Boute, O, Andrieux, J, Blanchet, P, Geneviève, D, Puechberty, J, Schneider, A, Leheup, B, Jonveaux, P

مصطلحات موضوعية: Molecular Biology, Cellular and Molecular Neuroscience, Psychiatry and Mental Health

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/27240531; info:eu-repo/semantics/altIdentifier/wos/WOS:000401702800007; volume:22; issue:6; firstpage:836; lastpage:849; numberofpages:14; journal:MOLECULAR PSYCHIATRY; http://hdl.handle.net/11365/1010224; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84973140920; https://www.nature.com/articles/mp201684

الاتاحة: http://hdl.handle.net/11365/1010224
https://doi.org/10.1038/mp.2016.84
https://www.nature.com/articles/mp201684

المؤلفون: Lahut, S., Gispert, S., Ömür, Ö., Depboylu, C., Seidel, K., Domínguez-Bautista, J., Brehm, N., Tireli, H., Hackmann, K., Pirkevi, C., Leube, B., Ries, V., Reim, K., Brose, N., den Dunnen, W., Johnson, M., Wolf, Z., Schindewolf, M., Schrempf, W., Reetz, K., Young, P., Vadasz, D., Frangakis, A., Schröck, E., Steinmetz, H., Jendrach, M., Rüb, U., Basak, A., Oertel, W., Auburger, G.

المصدر: Disease models and mechanisms

وصف الملف: application/pdf

Relation: http://hdl.handle.net/11858/00-001M-0000-002D-7054-A; http://hdl.handle.net/11858/00-001M-0000-002D-7056-6

الاتاحة: http://hdl.handle.net/11858/00-001M-0000-002D-7054-A
http://hdl.handle.net/11858/00-001M-0000-002D-7056-6

المؤلفون: Brandt, A, Löhers, K, Beier, M, Leube, B, de Torres, C, Mora, J, Arora, P, Jat, PS, Royer-Pokora, B

المصدر: PLoS One , 11 (5) , Article e0155561. (2016)

مصطلحات موضوعية: Cell immortalization, Gene expression, Nephroblastoma, Cell differentiation, Muscle differentiation, Deletions, Kidneys, Mutation, Large-T-Antigen, Human Mammary Fibroblasts, Endothelial-cells, CTNNB1 Mutations, Mammalian Kidney, Simian VIRUS-40, Microarray Data, Beta-Catenin, Telomerase

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/1496321/1/Jat-P__Establishment%20of%20a%20Conditionally%20Immortalized%20Wilms%20Tumor%20Cell%20Line%20with%20a%20Homozygous%20WT1%20Deletion_.pdf; https://discovery.ucl.ac.uk/id/eprint/1496321/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/1496321/1/Jat-P__Establishment%20of%20a%20Conditionally%20Immortalized%20Wilms%20Tumor%20Cell%20Line%20with%20a%20Homozygous%20WT1%20Deletion_.pdf
https://discovery.ucl.ac.uk/id/eprint/1496321/

المؤلفون: Schumacher, V, Vogel, T, Leube, B, Driemel, C, Goecke, T, Möslein, G, Royer-Pokora, B

مصطلحات موضوعية: Letters to JMG

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/42/5/428; http://dx.doi.org/10.1136/jmg.2004.026294

الاتاحة: http://jmg.bmj.com/cgi/content/short/42/5/428
https://doi.org/10.1136/jmg.2004.026294

المؤلفون: Qi Tian )a, Ansgar Schmidta, Werner W. Frankea, Reinhard Windofferb, Rudolf E. Leube)b A

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://www.moca.rwth-aachen.de/pubs/19/eshkind_et_al_2002.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.329.185; http://www.moca.rwth-aachen.de/pubs/19/eshkind_et_al_2002.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.329.185
http://www.moca.rwth-aachen.de/pubs/19/eshkind_et_al_2002.pdf

المؤلفون: Jarman, P R, del Grosso, N, Valente, E M, Leube, B, Cassetta, E, Bentivoglio, A R, Waddy, H M, Uitti, R J, Maraganore, D M, Albanese, A, Frontali, M, Auburger, G, Bressman, S B, Wood, N W, Nygaard, T G

المصدر: Journal of Neurology, Neurosurgery & Psychiatry ; volume 67, issue 3, page 395-397 ; ISSN 0022-3050

الاتاحة: http://dx.doi.org/10.1136/jnnp.67.3.395
https://syndication.highwire.org/content/doi/10.1136/jnnp.67.3.395

المؤلفون: Leube, B., Arnberg, L.

المصدر: International Journal of Cast Metals Research ; volume 11, issue 6, page 507-514 ; ISSN 1364-0461 1743-1336

الاتاحة: http://dx.doi.org/10.1080/13640461.1999.11819325

المؤلفون: Lavedan, C., Buchholtz, S., Auburger, G., Albin, R. L., Athanassiadou, A., Blancato, J., Burguera, J. A., Ferrell, R. E., Kostic, V., Leroy, E., Leube, B., Mota-Vieira, L., Papapetropoulos, T., Pericak-Vance, M. A., Pinkus, J., Scott, W. K., Ulm, G., Vasconcelos, J., Vilchez, J. J., Nussbaum, R. L., Polymeropoulos, M. H.

مصطلحات موضوعية: Articles

وصف الملف: text/html

Relation: http://dnaresearch.oxfordjournals.org/cgi/content/short/5/6/401; http://dx.doi.org/10.1093/dnares/5.6.401

الاتاحة: http://dnaresearch.oxfordjournals.org/cgi/content/short/5/6/401
https://doi.org/10.1093/dnares/5.6.401

المؤلفون: Leube, B, Rudnicki, D, Ratzlaff, T, Kessler, KR, Benecke, R, Auburger, G

مصطلحات موضوعية: ARTICLES

وصف الملف: text/html

Relation: http://hmg.oxfordjournals.org/cgi/content/short/5/10/1673; http://dx.doi.org/10.1093/hmg/5.10.1673

الاتاحة: http://hmg.oxfordjournals.org/cgi/content/short/5/10/1673
https://doi.org/10.1093/hmg/5.10.1673

المؤلفون: Rudnik-Schöneborn, S, Tölle, D, Senderek, J, Eggermann, K, Elbracht, M, Kornak, U., von der Hagen, M, Kirschner, J, Leube, B, Müller-Felber, W, Schara, U, von Au, K, Wieczorek, D, Bußmann, C, Zerres, K

Relation: https://resolver.sub.uni-goettingen.de/purl?gro-2/66719

الاتاحة: https://resolver.sub.uni-goettingen.de/purl?gro-2/66719
https://doi.org/10.1111/cge.12594

المؤلفون: Rudnik-Schöneborn, S., Tölle, D., Schara, U., von Au, K., Wieczorek, D., Bußmann, C., Zerres, K., Senderek, J., Eggermann, K., Elbracht, M., Kornak, U., von der Hagen, M., Kirschner, J., Leube, B., Müller-Felber, W.

المصدر: Clinical genetics 89(1), 34-43 (2016). doi:10.1111/cge.12594

جغرافية الموضوع: DE

Relation: info:eu-repo/semantics/altIdentifier/issn/1399-0004; info:eu-repo/semantics/altIdentifier/wos/WOS:000368346400006; info:eu-repo/semantics/altIdentifier/issn/0009-9163; info:eu-repo/semantics/altIdentifier/pmid/pmid:25850958; https://publications.rwth-aachen.de/record/538472; https://publications.rwth-aachen.de/search?p=id:%22RWTH-CONV-092737%22

الاتاحة: https://publications.rwth-aachen.de/record/538472
https://publications.rwth-aachen.de/search?p=id:%22RWTH-CONV-092737%22

المؤلفون: Holtmann, N, Porn, A, Südmeyer, M, Leube, B, Hampl, M, Fehm, T

المصدر: Geburtshilfe und Frauenheilkunde ; volume 76, issue 10 ; ISSN 0016-5751 1438-8804

الاتاحة: http://dx.doi.org/10.1055/s-0036-1593037
http://www.thieme-connect.de/DOI/DOI?10.1055/s-0036-1593037

المؤلفون: Sterzer, E., Beyer, A., Duschek, L., Nattermann, L., Ringler, B., Leube, B., Stegmüller, A., Tonner, R., von Hänisch, C., Stolz, W., Volz, K.

المساهمون: German Science Foundation

المصدر: Journal of Crystal Growth ; volume 439, page 19-27 ; ISSN 0022-0248

الاتاحة: http://dx.doi.org/10.1016/j.jcrysgro.2015.12.032
https://api.elsevier.com/content/article/PII:S0022024815007514?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0022024815007514?httpAccept=text/plain

المؤلفون: Brandt A, Löhers K, Beier M, Leube B, de Torres C, Mora J, Arora P, Jat PS, Royer-Pokora B

المصدر: PLoS One
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::284a2e866904749b2885971d4a29acdb
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=12360

المؤلفون: Stein, J., Schulz, R.-J., Leube, B.

المصدر: Praxishandbuch klinische Ernährung und Infusionstherapie ; page 408-425 ; ISBN 9783642626258 9783642558962

الاتاحة: http://dx.doi.org/10.1007/978-3-642-55896-2_29
http://link.springer.com/content/pdf/10.1007/978-3-642-55896-2_29

المؤلفون: Leube, B., Stein, J.

المصدر: Praxishandbuch klinische Ernährung und Infusionstherapie ; page 403-407 ; ISBN 9783642626258 9783642558962

الاتاحة: http://dx.doi.org/10.1007/978-3-642-55896-2_28
http://link.springer.com/content/pdf/10.1007/978-3-642-55896-2_28

المؤلفون: Dirk Gerdes, E. Falkenstein, Wehling M, Leube B

المصدر: bchm. 379:907-930

مصطلحات موضوعية: chemistry.chemical_classification, Clinical Biochemistry, Biochemistry, Membrane progesterone receptor, Cell biology, Amino acid, Transmembrane domain, Chromosome 4, Membrane protein, chemistry, Cell surface receptor, Molecular Biology, PGRMC1, X chromosome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d9cf4cf420dabddec8174db435228d48
https://doi.org/10.1515/bchm.1998.379.7.907