المؤلفون: Grange, Laura J, Reynolds, John J, Ullah, Farid, Isidor, Bertrand, Shearer, Robert F, Latypova, Xenia, Baxley, Ryan M, Oliver, Antony W, Ganesh, Anil, Cooke, Sophie L, Jhujh, Satpal S, McNee, Gavin S, Hollingworth, Robert, Higgs, Martin R, Natsume, Toyoaki, Khan, Tahir, Martos-Moreno, Gabriel Á, Chupp, Sharon, Mathew, Christopher G, Parry, David, Simpson, Michael A, Nahavandi, Nahid, Yüksel, Zafer, Drasdo, Mojgan, Kron, Anja, Vogt, Petra, Jonasson, Annemarie, Seth, Saad Ahmed, Gonzaga-Jauregui, Claudia, Brigatti, Karlla W, Stegmann, Alexander P A, Kanemaki, Masato, Josifova, Dragana, Uchiyama, Yuri, Oh, Yukiko, Morimoto, Akira, Osaka, Hitoshi, Ammous, Zineb, Argente, Jesús, Matsumoto, Naomichi, Stumpel, Constance T R M, Taylor, Alexander M R, Jackson, Andrew P, Bielinsky, Anja-Katrin, Mailand, Niels, Le Caignec, Cedric, Davis, Erica E, Stewart, Grant S

المصدر: Grange , L J , Reynolds , J J , Ullah , F , Isidor , B , Shearer , R F , Latypova , X , Baxley , R M , Oliver , A W , Ganesh , A , Cooke , S L , Jhujh , S S , McNee , G S , Hollingworth , R , Higgs , M R , Natsume , T , Khan , T , Martos-Moreno , G Á , Chupp , S , Mathew , C G , Parry , D , Simpson , M A , Nahavandi , N ....

مصطلحات موضوعية: Humans, Cell Cycle Proteins/genetics, Microcephaly/genetics, DNA Repair/genetics, Chromosomes/metabolism, Genomic Instability, DNA-Binding Proteins/metabolism, Ubiquitin-Protein Ligases/metabolism, Chromosomal Proteins, Non-Histone/metabolism

Relation: https://cris.maastrichtuniversity.nl/en/publications/d25cbc54-c6a3-46e2-bcc9-fb0afe819ff4

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/d25cbc54-c6a3-46e2-bcc9-fb0afe819ff4
https://doi.org/10.1038/s41467-022-34349-8

المؤلفون: Grange, Laura J., Reynolds, John J., Ullah, Farid, Isidor, Bertrand, Shearer, Robert F., Latypova, Xenia, Baxley, Ryan M., Oliver, Antony W., Ganesh, Anil, Cooke, Sophie L., Jhujh, Satpal S., McNee, Gavin S., Hollingworth, Robert, Higgs, Martin R., Natsume, Toyoaki, Khan, Tahir, Martos-Moreno, Gabriel, Chupp, Sharon, Mathew, Christopher G., Parry, David, Simpson, Michael A., Nahavandi, Nahid, Yüksel, Zafer, Drasdo, Mojgan, Kron, Anja, Vogt, Petra, Jonasson, Annemarie, Seth, Saad Ahmed, Gonzaga-Jauregui, Claudia, Brigatti, Karlla W., Stegmann, Alexander P.A., Kanemaki, Masato, Josifova, Dragana, Uchiyama, Yuri, Oh, Yukiko, Morimoto, Akira, Osaka, Hitoshi, Ammous, Zineb, Argente, Jesús, Matsumoto, Naomichi, Stumpel, Constance T.R.M., Taylor, Alexander M.R., Jackson, Andrew P., Bielinsky, Anja Katrin, Mailand, Niels, Le Caignec, Cedric, Davis, Erica E., Stewart, Grant S.

المصدر: Grange , L J , Reynolds , J J , Ullah , F , Isidor , B , Shearer , R F , Latypova , X , Baxley , R M , Oliver , A W , Ganesh , A , Cooke , S L , Jhujh , S S , McNee , G S , Hollingworth , R , Higgs , M R , Natsume , T , Khan , T , Martos-Moreno , G , Chupp , S , Mathew , C G , Parry , D , Simpson , M A , Nahavandi , N , Yüksel , Z , Drasdo , M , Kron , A , Vogt , P , Jonasson , A , Seth , S A , Gonzaga-Jauregui , C , Brigatti , K W , Stegmann , A P A , Kanemaki , M , Josifova , D , Uchiyama , Y , Oh , Y , Morimoto , A , Osaka , H , Ammous , Z , Argente , J , Matsumoto , N , Stumpel , C T R M , Taylor , A M R , Jackson , A P , Bielinsky , A K , Mailand , N , Le Caignec , C , Davis , E E & Stewart , G S 2022 , ' Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy ' , Nature Communications , vol. 13 , 6664 .

مصطلحات الفهرس: article

URL: https://curis.ku.dk/portal/da/publications/pathogenic-variants-in-slf2-and-smc5-cause-segmented-chromosomes-and-mosaic-variegated-hyperploidy(8688caac-6751-4f70-b7b1-ec014b54a8a8).html
https://doi.org/10.1038/s41467-022-34349-8
https://curis.ku.dk/ws/files/329248392/s41467_022_34349_8.pdf

المؤلفون: Weiskirchen, Ralf, Weimer, Jörg, Bergmann, Carsten, Meurer, Steffen K., Kron, Anja, Seipel, Barbara, Vater, Inga, Arnold, Norbert, Siebert, Reiner, Xu, Lieming, Friedman, Scott L.

المصدر: PLOS ONE 8(10), e75692 (2013). doi:10.1371/journal.pone.0075692

جغرافية الموضوع: DE

Relation: info:eu-repo/semantics/altIdentifier/issn/1932-6203; info:eu-repo/semantics/altIdentifier/wos/WOS:000325552200034; info:eu-repo/semantics/altIdentifier/pmid/pmid:24116068; https://publications.rwth-aachen.de/record/232802; https://publications.rwth-aachen.de/search?p=id:%22RWTH-CONV-081725%22

الاتاحة: https://publications.rwth-aachen.de/record/232802
https://publications.rwth-aachen.de/search?p=id:%22RWTH-CONV-081725%22

المؤلفون: Bolz, Hanno Joern, Kron, Anja, Eisenberger, Tobias, Decker, Christian, Seipel, Barbara, Kraus, Cornelia, Bergmann, Carsten, Neuhaus, Christine

مصطلحات موضوعية: ddc:no

Relation: Bolz, Hanno Joern, Kron, Anja, Eisenberger, Tobias, Decker, Christian, Seipel, Barbara, Kraus, Cornelia, Bergmann, Carsten and Neuhaus, Christine (2014). Targeted NGS Incidentally Reveals Klinefelter Syndrome in a Patient with X-Linked Recessive Retinitis Pigmentosa and Skewed X Inactivation. Invest. Ophthalmol. Vis. Sci., 55 (13). ROCKVILLE: ASSOC RESEARCH VISION OPHTHALMOLOGY INC. ISSN 1552-5783

الاتاحة: https://kups.ub.uni-koeln.de/44233/

المؤلفون: Weiskirchen, Ralf, Weimer, Jörg, Meurer, Steffen K., Kron, Anja, Seipel, Barbara, Vater, Inga, Arnold, Norbert, Siebert, Reiner, Xu, Lieming, Friedman, Scott L., Bergmann, Carsten

مصطلحات موضوعية: 3. Good health

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::711430f529f5c481f34165dac38a42ae