المؤلفون: Toth, A, Demcsak, A, Zankl, F, Oracz, G, Unger, LS, Bugert, P, Laumen, H, Parniczky, A, Hegyi, P, Rosendahl, J, Gambin, T, Ploski, R, Koziel, D, Gluszek, S, Lindgren, F, Lohr, JM, Sahin-Toth, M, Witt, H, Rygiel, AM, Ewers, M, Hegyi, E

المصدر: Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.]. 22(6):713-718

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:151239242

المؤلفون: Christina G. Tise, Katie Ashton, Lachlan de Hayr, Kun-Di Lee, Omkar L. Patkar, Emma Krzesinski, Jennifer A. Bassetti, Erin M. Carter, Cathleen Raggio, Andreas Zankl, Anas M. Khanshour, Kristhen N. Atala, Jonathan J. Rios, Carol A. Wise, Ying Zhu, Futao Zhang, Tony Roscioli, Michael Buckley, Robert J. Harvey, Paul A. Dawson

المصدر: Genetics in Medicine Open, Vol 3, Iss , Pp 101958- (2025)

مصطلحات موضوعية: Hyposulfatemia, Scoliosis, Short stature, Skeletal dysplasia, Sulfate transporter, Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S294977442401104X; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/fc53c92b96044eb7baa0dc4bcf4c8e7d

المؤلفون: Zankl, Jonah¹ (AUTHOR) j.zankl@business.uq.edu.au, Grimes, Matthew² (AUTHOR) m.grimes@jbs.cam.ac.uk

المصدر: Academy of Management Review. Oct2024, Vol. 49 Issue 4, p879-905. 27p.

مصطلحات موضوعية: *ENTREPRENEURSHIP, *UNICORNS (Finance), *FINANCIALIZATION, *BUSINESSPEOPLE, *STAKEHOLDERS, IDEOLOGY, DISRUPTIVE innovations, NEOLIBERALISM

المؤلفون: Josephina A. N. Meester, Anne Hebert, Maaike Bastiaansen, Laura Rabaut, Jarl Bastianen, Nele Boeckx, Kathryn Ashcroft, Paldeep S. Atwal, Antoine Benichou, Clarisse Billon, Jan D. Blankensteijn, Paul Brennan, Stephanie A. Bucks, Ian M. Campbell, Solène Conrad, Stephanie L. Curtis, Majed Dasouki, Carolyn L. Dent, James Eden, Himanshu Goel, Verity Hartill, Arjan C. Houweling, Bertrand Isidor, Nicola Jackson, Pieter Koopman, Anita Korpioja, Minna Kraatari-Tiri, Liina Kuulavainen, Kelvin Lee, Karen J. Low, Alan C. Lu, Morgan L. McManus, Stephen P. Oakley, James Oliver, Nicole M. Organ, Eline Overwater, Nicole Revencu, Alison H. Trainer, Bhavya Trivedi, Claire L. S. Turner, Rebecca Whittington, Andreas Zankl, Dominica Zentner, Lut Van Laer, Aline Verstraeten, Bart L. Loeys

المصدر: npj Genomic Medicine, Vol 9, Iss 1, Pp 1-9 (2024)

مصطلحات موضوعية: Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2056-7944

URL الوصول: https://doaj.org/article/59c29ea90e714804ab5f4038f2662271

المؤلفون: Rabus, Hans, Zankl, Maria, Gomez-Ros, Jose Maria, Villagrasa, Carmen, Eakins, Jonathan, Huet, Christelle, Brkic, Hrvoje, Tanner, Rick

المصدر: Radiation Measurements 156, 106822 (2022)

مصطلحات موضوعية: Physics - Medical Physics, Physics - Computational Physics

URL الوصول: http://arxiv.org/abs/2205.07321

المؤلفون: Zankl, Maria, Eakins, Jonathan, Ros, Jose-Maria Gomez, Huet, Christelle, Jansen, Jan, Moraleda, Montserrat, Reichelt, Uwe, Struelens, Lara, Vrba, Tomas

المصدر: Radiation Measurements 145 (2021) 106596

مصطلحات موضوعية: Physics - Medical Physics, Physics - Computational Physics

URL الوصول: http://arxiv.org/abs/2112.03831

المؤلفون: Meester, Josephina (Jeannette), Hebert, Anne, Bastiaansen, Maaike, Rabaut, Laura, Bastianen, Jarl, Boeckx, Nele, Benichou, Antoine, Blankensteijn, Jan D., Brennan, Paul, Conrad, Solene, Curtis, Stephanie L., Dent, Carolyn L., Goel, Himanshu, Goh, Shuxiang, Houweling, Arjan, Isidor, Bertrand, Jackson, Nicola, KOOPMAN, Pieter, Korpioja, Anita, Kuuluvainen, Liina, Low, Karen, Oakley, Stephen P., Organ, Nicole M., Overwater, Eline, Revencu, Nicole, Kraatari-Tiri, Minna, Trainer, Alison, Turner, Claire, Whittington, Rebecca, Zankl, Andreas, Van Laer , Lut, Verstraeten , Aline, Loeys, Bart

المساهمون: Meester, Josephina (Jeannette), Hebert, Anne, Bastiaansen, Maaike, Rabaut, Laura, Bastianen, Jarl, Boeckx, Nele, Benichou, Antoine, Blankensteijn, Jan D., Brennan, Paul, Conrad, Solene, Curtis, Stephanie L., Dent, Carolyn L., Goel, Himanshu, Goh, Shuxiang, Houweling, Arjan, Isidor, Bertrand, Jackson, Nicola, KOOPMAN, Pieter, Korpioja, Anita, Kuuluvainen, Liina, Low, Karen, Oakley, Stephen P., Organ, Nicole M., Overwater, Eline, Revencu, Nicole, Kraatari-Tiri, Minna, Trainer, Alison, Turner, Claire, Whittington, Rebecca, Zankl, Andreas, Van Laer , Lut, Verstraeten , Aline, Loeys, Bart

وصف الملف: application/pdf

Relation: EUROPEAN JOURNAL OF HUMAN GENETICS, 32 (S1) , p. 14; http://hdl.handle.net/1942/42548; S1; 14; 32; 001147414900026

الاتاحة: http://hdl.handle.net/1942/42548

المؤلفون: Ivan Gavrilan, Felix Oberhansl, Alexander Wagner, Emanuele Strieder, Andreas Zankl

المصدر: Transactions on Cryptographic Hardware and Embedded Systems, Vol 2024, Iss 2 (2024)

مصطلحات موضوعية: Keccak, fault injection, impeccable circuits, active security, SPHINCS+, post-quantum cryptography, Computer engineering. Computer hardware, TK7885-7895, Information technology, T58.5-58.64

وصف الملف: electronic resource

Relation: https://tches.iacr.org/index.php/TCHES/article/view/11424; https://doaj.org/toc/2569-2925

URL الوصول: https://doaj.org/article/22c58ca15b134c8083cfab1053128887

المؤلفون: Leticia A. Deveza, Andreas Zankl, David J. Hunter

المصدر: BMC Musculoskeletal Disorders, Vol 24, Iss 1, Pp 1-8 (2023)

مصطلحات موضوعية: Osteoarthritis, Dysplasia, Arthritis, Diseases of the musculoskeletal system, RC925-935

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2474

URL الوصول: https://doaj.org/article/27d993dfe43a4b9082111e480a09eb9c

المؤلفون: Louise Tofts, Penny Ireland, Tracy Tate, Supriya Raj, Theresa Carroll, Craig F. Munns, Stephen Knipe, Katherine Langdon, Lesley McGregor, Fiona McKenzie, Andreas Zankl, Ravi Savarirayan

المصدر: Children, Vol 11, Iss 7, p 789 (2024)

مصطلحات موضوعية: achondroplasia, treatment, clinical guidelines, vosoritide, rare disease, Australia, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2227-9067/11/7/789; https://doaj.org/toc/2227-9067

URL الوصول: https://doaj.org/article/6794ef8017ff41578c48912f62a1251c

المؤلفون: Meester JAN, Hebert A, Bastiaansen M, Rabaut L, Bastianen J, Boeckx N, Ashcroft K, Atwal PS, Benichou A, Billon C, Blankensteijn JD, Brennan P, Bucks SA, Campbell IM, Conrad S, Curtis SL, Dasouki M, Dent CL, Eden J, Goel H, Hartill V, Houweling AC, Isidor B, Jackson N, Koopman P, Korpioja A, Kraatari-Tiri M, Kuulavainen L, Lee K, Low KJ, Lu AC, McManus ML, Oakley SP, Oliver J, Organ NM, Overwater E, Revencu N, Trainer AH, Trivedi B, Turner CLS, Whittington R, Zankl A, Zentner D, Van Laer L, Verstraeten A, Loeys BL

المصدر: npj Genomic Medicine, December 2024

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/297778; https://eprints.ncl.ac.uk/fulltext.aspx?url=297778/B754D906-0A62-45E9-8CC4-525E7B54E5E3.pdf&pub_id=297778

الاتاحة: https://eprints.ncl.ac.uk/297778

المؤلفون: Gargano MA, Matentzoglu N, Coleman B, Addo-Lartey EB, Anagnostopoulos AV, Anderton J, Avillach P, Bagley AM, Bakstein E, Balhoff JP, Baynam G, Bello SM, Berk M, Bertram H, Bishop S, Blau H, Bodenstein DF, Botas P, Boztug K, Cady J, Callahan TJ, Cameron R, Carbon SJ, Castellanos F, Caufield JH, Chan LE, Chute CG, Cruz-Rojo J, Dahan-Oliel N, Davids JR, de Dieuleveult M, de Souza V, de Vries BBA, de Vries E, DePaulo JR, Derfalvi B, Dhombres F, Diaz-Byrd C, Dingemans AJM, Donadille B, Duyzend M, Elfeky R, Essaid S, Fabrizzi C, Fico G, Firth HV, Freudenberg-Hua Y, Fullerton JM, Gabriel DL, Gilmour K, Giordano J, Goes FS, Moses RG, Green I, Griese M, Groza T, Gu W, Guthrie J, Gyori B, Hamosh A, Hanauer M, Hanusova K, He YO, Hegde H, Helbig I, Holasova K, Hoyt CT, Huang S, Hurwitz E, Jacobsen JOB, Jiang X, Joseph L, Keramatian K, King B, Knoflach K, Koolen DA, Kraus ML, Kroll C, Kusters M, Ladewig MS, Lagorce D, Lai M-C, Lapunzina P, Laraway B, Lewis-Smith D, Li X, Lucano C, Majd M, Marazita ML, Martinez-Glez V, McHenry TH, McInnis MG, McMurry JA, Mihulova M, Millett CE, Mitchell PB, Moslerova V, Narutomi K, Nematollahi S, Nevado J, Nierenberg AA, Cajbikova NN, Nurnberger JI, Ogishima S, Olson D, Ortiz A, Pachajoa H, Perez de Nanclares G, Peters A, Putman T, Rapp CK, Rath A, Reese J, Rekerle L, Roberts AM, Roy S, Sanders SJ, Schuetz C, Schulte EC, Schulze TG, Schwarz M, Scott K, Seelow D, Seitz B, Shen Y, Similuk MN, Simon ES, Singh B, Smedley D, Smith CL, Smolinsky JT, Sperry S, Stafford E, Stefancsik R, Steinhaus R, Strawbridge R, Sundaramurthi JC, Talapova P, Tenorio Castano JA, Tesner P, Thomas RH, Thurm A, Turnovec M, van Gijn ME, Vasilevsky NA, Vlckova M, Walden A, Wang K, Wapner R, Ware JS, Wiafe AA, Wiafe SA, Wiggins LD, Williams AE, Wu C, Wyrwoll MJ, Xiong H, Yalin N, Yamamoto Y, Yatham LN, Yocum AK, Young AH, Yuksel Z, Zandi PP, Zankl A, Zarante I, Zvolsky M, Toro S, Carmody LC, Harris NL, Munoz-Torres MC, Danis D, Mungall CJ, Kohler S, Haendel MA, Robinson PN

المصدر: Nucleic Acids Research, 5 January 2024

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/296284; https://eprints.ncl.ac.uk/fulltext.aspx?url=296284/715F87BA-90BC-4041-B6C2-A1BE5E3DD824.pdf&pub_id=296284

الاتاحة: https://eprints.ncl.ac.uk/296284

المؤلفون: Meester, Josephina A.N., Hebert, Anne, Bastiaansen, Maaike, Rabaut, Laura, Bastianen, Jarl, Boeckx, Nele, Ashcroft, Kathryn, Atwal, Paldeep S., Benichou, Antoine, Billon, Clarisse, Blankensteijn, Jan D., Brennan, Paul, Bucks, Stephanie A., Campbell, Ian M., Conrad, Solène, Curtis, Stephanie L., Dasouki, Majed, Dent, Carolyn L., Eden, James, Goel, Himanshu, Hartill, Verity, Houweling, Arjan C., Isidor, Bertrand, Jackson, Nicola, Koopman, Pieter, Korpioja, Anita, Kraatari-Tiri, Minna, Kuulavainen, Liina, Lee, Kelvin, Low, Karen J., Lu, Alan C., McManus, Morgan L., Oakley, Stephen P., Oliver, James, Organ, Nicole M., Overwater, Eline, Revencu, Nicole, Trainer, Alison H., Trivedi, Bhavya, Turner, Claire L.S., Whittington, Rebecca, Zankl, Andreas, Zentner, Dominica, Van Laer, Lut, Verstraeten, Aline, Loeys, Bart L.

المساهمون: Clinicum, HUS Helsinki and Uusimaa Hospital District

مصطلحات موضوعية: Biomedicine, Genetics, developmental biology, physiology

وصف الملف: application/pdf

Relation: We are grateful to the families who participated in this study. This research was largely supported by funding from the University of Antwerp (Methusalem-OEC grant “Genomed”—40709), the Research Foundation Flanders (FWO, Belgium—G040221N, G044720N), the Belgian Cardiac Surgery Foundation and the Marfan Foundation. B.L.L. holds a consolidator grant from the European Research Council (Genomia—ERC-COG-2017-771945). B.L.L. and A.V. are members of the European Reference Network on Rare Multisystemic Vascular Disorders (VASCERN—769036, partly co-funded by the European Union Third Health Program). J.A.N.M. is a postdoctoral researcher at the Research Foundation Flanders (FWO, Belgium—12X8520N, 12AO124N). A.H. is a predoctoral researcher at the Research Foundation Flanders (FWO, Belgium—11PM524N). I.M.C. is funded by the National Institutes of Health Eunice Kennedy Shriver National Institute of Child Health and Human Development (K08-HD111688). V.H. was supported by a National Institute Health Research/Medical Research Council Clinical Academic Research Partnership award (MR/V037617/1). K.L. is supported by funding from the National Institute for Health and Care Research. The funders played no role in the study design, data collection, analysis, and interpretation of data, or the writing of this manuscript.; Meester , J A N , Hebert , A , Bastiaansen , M , Rabaut , L , Bastianen , J , Boeckx , N , Ashcroft , K , Atwal , P S , Benichou , A , Billon , C , Blankensteijn , J D , Brennan , P , Bucks , S A , Campbell , I M , Conrad , S , Curtis , S L , Dasouki , M , Dent , C L , Eden , J , Goel , H , Hartill , V , Houweling , A C , Isidor , B , Jackson , N , Koopman , P , Korpioja , A , Kraatari-Tiri , M , Kuulavainen , L , Lee , K , Low , K J , Lu , A C , McManus , M L , Oakley , S P , Oliver , J , Organ , N M , Overwater , E , Revencu , N , Trainer , A H , Trivedi , B , Turner , C L S , Whittington , R , Zankl , A , Zentner , D , Van Laer , L , Verstraeten , A & Loeys , B L 2024 , ' Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome ' , Npj genomic medicine , vol. 9 , no. 1 , 22 . https://doi.org/10.1038/s41525-024-00413-z; http://hdl.handle.net/10138/574681; 857cf575-c70b-44d0-ae5b-1982b0ef41c0; 85188826227; 001191451600001

الاتاحة: http://hdl.handle.net/10138/574681

المؤلفون: Gargano, Michael A., Matentzoglu, Nicolas, Coleman, Ben, Addo-Lartey, Eunice B., Anagnostopoulos, Anna V., Anderton, Joel, Avillach, Paul, Bagley, Anita M., Bakštein, Eduard, Balhoff, James P., Baynam, Gareth, Bello, Susan M., Berk, Michael, Bertram, Holli, Bishop, Somer, Blau, Hannah, Bodenstein, David F., Botas, Pablo, Boztug, Kaan, Čady, Jolana, Callahan, Tiffany J., Cameron, Rhiannon, Carbon, Seth J., Castellanos, Francisco, Caufield, J. Harry, Chan, Lauren E., Chute, Christopher G., Cruz-Rojo, Jaime, Dahan-Oliel, Noémi, Davids, Jon R., Dieuleveult, Maudde, Souza, Viniciusde, de Vries, Bert B.A., Vries, Estherde, DePaulo, J. Raymond, Derfalvi, Beata, Dhombres, Ferdinand, Diaz-Byrd, Claudia, Dingemans, Alexander J.M., Donadille, Bruno, Duyzend, Michael, Elfeky, Reem, Essaid, Shahim, Fabrizzi, Carolina, Fico, Giovanna, Firth, Helen V., Freudenberg-Hua, Yun, Fullerton, Janice M., Gabriel, Davera L., Gilmour, Kimberly, Giordano, Jessica, Goes, Fernando S., Moses, Rachel Gore, Green, Ian, Griese, Matthias, Groza, Tudor, Gu, Weihong, Guthrie, Julia, Gyori, Benjamin, Hamosh, Ada, Hanauer, Marc, Hanušová, Kateřina, He, Yongqun, Hegde, Harshad, Helbig, Ingo, Holasová, Kateřina, Hoyt, Charles Tapley, Huang, Shangzhi, Hurwitz, Eric, Jacobsen, Julius O.B., Jiang, Xiaofeng, Joseph, Lisa, Keramatian, Kamyar, King, Bryan, Knoflach, Katrin, Koolen, David A., Kraus, Megan L., Kroll, Carlo, Kusters, Maaike, Ladewig, Markus S., Lagorce, David, Lai, Meng Chuan, Lapunzina, Pablo, Laraway, Bryan, Lewis-Smith, David, Li, Xiarong, Lucano, Caterina, Majd, Marzieh, Marazita, Mary L., Martinez-Glez, Victor, McHenry, Toby H., McInnis, Melvin G., McMurry, Julie A., Mihulová, Michaela, Millett, Caitlin E., Mitchell, Philip B., Moslerová, Veronika, Narutomi, Kenji, Nematollahi, Shahrzad, Nevado, Julian, Nierenberg, Andrew A., Čajbiková, Nikola Novák, Nurnberger, John I., Ogishima, Soichi, Olson, Daniel, Ortiz, Abigail, Pachajoa, Harry, Nanclares, Guiomar Perezde, Peters, Amy, Putman, Tim, Rapp, Christina K., Rath, Ana, Reese, Justin, Rekerle, Lauren, Roberts, Angharad M., Roy, Suzy, Sanders, Stephan J., Schuetz, Catharina, Schulte, Eva C., Schulze, Thomas G., Schwarz, Martin, Scott, Katie, Seelow, Dominik, Seitz, Berthold, Shen, Yiping, Similuk, Morgan N., Simon, Eric S., Singh, Balwinder, Smedley, Damian, Smith, Cynthia L., Smolinsky, Jake T., Sperry, Sarah, Stafford, Elizabeth, Stefancsik, Ray, Steinhaus, Robin, Strawbridge, Rebecca, Sundaramurthi, Jagadish Chandrabose, Talapova, Polina, Castano, Jair A.Tenorio, Tesner, Pavel, Thomas, Rhys H., Thurm, Audrey, Turnovec, Marek, van Gijn, Marielle E., Vasilevsky, Nicole A., Vlčková, Markéta, Walden, Anita, Wang, Kai, Wapner, Ron, Ware, James S., Wiafe, Addo A., Wiafe, Samuel A., Wiggins, Lisa D., Williams, Andrew E., Wu, Chen, Wyrwoll, Margot J., Xiong, Hui, Yalin, Nefize, Yamamoto, Yasunori, Yatham, Lakshmi N., Yocum, Anastasia K., Young, Allan H., Yüksel, Zafer, Zandi, Peter P., Zankl, Andreas, Zarante, Ignacio, Zvolský, Miroslav, Toro, Sabrina, Carmody, Leigh C., Harris, Nomi L., Munoz-Torres, Monica C., Danis, Daniel, Mungall, Christopher J., Köhler, Sebastian, Haendel, Melissa A., Robinson, Peter N.

المصدر: Gargano , M A , Matentzoglu , N , Coleman , B , Addo-Lartey , E B , Anagnostopoulos , A V , Anderton , J , Avillach , P , Bagley , A M , Bakštein , E , Balhoff , J P , Baynam , G , Bello , S M , Berk , M , Bertram , H , Bishop , S , Blau , H , Bodenstein , D F , Botas , P , Boztug , K , Čady , J , Callahan , T J , Cameron , R , Carbon , S ....

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/53bfc48d-664b-48c8-aa1a-6eff4a812480
https://research.rug.nl/en/publications/53bfc48d-664b-48c8-aa1a-6eff4a812480
https://doi.org/10.1093/nar/gkad1005
https://pure.rug.nl/ws/files/925936582/The_Human_Phenotype_Ontology_in_2024-_phenotypes_around_the_world.pdf
http://www.scopus.com/inward/record.url?scp=85181760537&partnerID=8YFLogxK

المؤلفون: Zankl, J, Grimes, M

وصف الملف: application/pdf

Relation: https://www.repository.cam.ac.uk/handle/1810/366435; https://doi.org/10.17863/CAM.107374

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/366435
https://doi.org/10.17863/CAM.107374

المؤلفون: Meester, Josephina, Hebert, Anne, Bastiaansen, Maaike, Rabaut, Laura, Bastianen, Jarl, Boeckx, Nele, Ashcroft, Kathryn, Atwal, Paldeep S., Benichou, Antoine, Billon, Clarisse, Blankensteijn, Jan D., Brennan, Paul, Bucks, Stephanie A., Campbell, Ian M., Conrad, Solène, Curtis, Stephanie L., Dasouki, Majed, Dent, Carolyn L., Eden, James, Goel, Himanshu, Hartill, Verity, Houweling, Arjan C., Isidor, Bertrand, Jackson, Nicola, Koopman, Pieter, Korpioja, Anita, Kraatari-Tiri, Minna, Kuulavainen, Liina, Lee, Kelvin, Low, Karen J., Lu, Alan C., McManus, Morgan L., Oakley, Stephen P., Oliver, James, Organ, Nicole M., Overwater, Eline, Revencu, Nicole, Trainer, Alison H., Trivedi, Bhavya, Turner, Claire L.S., Whittington, Rebecca, Zankl, Andreas, Zentner, Dominica, Van Laer, Lut, Verstraeten, Aline, Loeys, Bart

المصدر: 2056-7944 ; Npj genomic medicine

مصطلحات موضوعية: Human medicine

Relation: info:eu-repo/grantAgreement/EC/h2020/771945; info:eu-repo/semantics/altIdentifier/isi/001191451600001

الاتاحة: https://hdl.handle.net/10067/2049980151162165141
https://repository.uantwerpen.be/docstore/d:irua:22738

المؤلفون: Gargano, Michael A, Matentzoglu, Nicolas, Coleman, Ben, Addo-Lartey, Eunice B, Anagnostopoulos, Anna, Anderton, Joel, Avillach, Paul, Bagley, Anita M, Bakstein, Eduard, Balhoff, James P, Baynam, Gareth, Bello, Susan M, Berk, Michael, Bertram, Holli, Bishop, Somer, Blau, Hannah, Bodenstein, David F, Botas, Pablo, Boztug, Kaan, Cady, Jolana, Callahan, Tiffany J, Cameron, Rhiannon, Carbon, Seth J, Castellanos, Francisco, Caufield, J Harry, Chan, Lauren E, Chute, Christopher G, Cruz-Rojo, Jaime, Dahan-Oliel, Noemi, Davids, Jon R, de Dieuleveult, Maud, de Souza, Vinicius, de Vries, Bert BA, de Vries, Esther, DePaulo, J Raymond, Derfalvi, Beata, Dhombres, Ferdinand, Diaz-Byrd, Claudia, Dingemans, Alexander JM, Donadille, Bruno, Duyzend, Michael, Elfeky, Reem, Essaid, Shahim, Fabrizzi, Carolina, Fico, Giovanna, Firth, Helen, Freudenberg-Hua, Yun, Fullerton, Janice M, Gabriel, Davera L, Gilmour, Kimberly, Giordano, Jessica, Goes, Fernando S, Moses, Rachel Gore, Green, Ian, Griese, Matthias, Groza, Tudor, Gu, Weihong, Guthrie, Julia, Gyori, Benjamin, Hamosh, Ada, Hanauer, Marc, Hanusova, Katerina, He, Yongqun Oliver, Hegde, Harshad, Helbig, Ingo, Holasova, Katerina, Hoyt, Charles Tapley, Huang, Shangzhi, Hurwitz, Eric, Jacobsen, Julius OB, Jiang, Xiaofeng, Joseph, Lisa, Keramatian, Kamyar, King, Bryan, Knoflach, Katrin, Koolen, David A, Kraus, Megan L, Kroll, Carlo, Kusters, Maaike, Ladewig, Markus S, Lagorce, David, Lai, Meng-Chuan, Lapunzina, Pablo, Laraway, Bryan, Lewis-Smith, David, Li, Xiarong, Lucano, Caterina, Majd, Marzieh, Marazita, Mary L, Martinez-Glez, Victor, McHenry, Toby H, McInnis, Melvin G, McMurry, Julie A, Mihulova, Michaela, Millett, Caitlin E, Mitchell, Philip B, Moslerova, Veronika, Narutomi, Kenji, Nematollahi, Shahrzad, Nevado, Julian, Nierenberg, Andrew A, Cajbikova, Nikola Novak, Nurnberger, John I, Ogishima, Soichi, Olson, Daniel, Ortiz, Abigail, Pachajoa, Harry, Perez de Nanclares, Guiomar, Peters, Amy, Putman, Tim, Rapp, Christina K, Rath, Ana, Reese, Justin, Rekerle, Lauren, Roberts, Angharad M, Roy, Suzy, Sanders, Stephan J, Schuetz, Catharina, Schulte, Eva C, Schulze, Thomas G, Schwarz, Martin, Scott, Katie, Seelow, Dominik, Seitz, Berthold, Shen, Yiping, Similuk, Morgan N, Simon, Eric S, Singh, Balwinder, Smedley, Damian, Smith, Cynthia L, Smolinsky, Jake T, Sperry, Sarah, Stafford, Elizabeth, Stefancsik, Ray, Steinhaus, Robin, Strawbridge, Rebecca, Sundaramurthi, Jagadish Chandrabose, Talapova, Polina, Tenorio Castano, Jair A, Tesner, Pavel, Thomas, Rhys H, Thurm, Audrey, Turnovec, Marek, van Gijn, Marielle E, Vasilevsky, Nicole A, Vlckova, Marketa, Walden, Anita, Wang, Kai, Wapner, Ron, Ware, James S, Wiafe, Addo A, Wiafe, Samuel A, Wiggins, Lisa D, Williams, Andrew E, Wu, Chen, Wyrwoll, Margot J, Xiong, Hui, Yalin, Nefize, Yamamoto, Yasunori, Yatham, Lakshmi N, Yocum, Anastasia K, Young, Allan H, Yueksel, Zafer, Zandi, Peter P, Zankl, Andreas, Zarante, Ignacio, Zvolsky, Miroslav, Toro, Sabrina, Carmody, Leigh C, Harris, Nomi L, Munoz-Torres, Monica C, Danis, Daniel, Mungall, Christopher J, Koehler, Sebastian, Haendel, Melissa A, Robinson, Peter N

المصدر: Nucleic Acids Research , 52 (D1) (2024)

وصف الملف: application/pdf

Relation: https://discovery.ucl.ac.uk/id/eprint/10189754/1/The%20Human%20Phenotype%20Ontology%20in%202024%20phenotypes%20around%20the%20world.pdf; https://discovery.ucl.ac.uk/id/eprint/10189754/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10189754/1/The%20Human%20Phenotype%20Ontology%20in%202024%20phenotypes%20around%20the%20world.pdf
https://discovery.ucl.ac.uk/id/eprint/10189754/

المؤلفون: Gargano, Michael A., Matentzoglu, Nicolas, Coleman, Ben, Addo-Lartey, Eunice B., Anagnostopoulos, Anna V., Anderton, Joel, Avillach, Paul, Bagley, Anita M., Bakštein, Eduard, Balhoff, James P., Baynam, Gareth, Bello, Susan M., Berk, Michael, Bertram, Holli, Bishop, Somer, Blau, Hannah, Bodenstein, David F., Botas, Pablo, Boztug, Kaan, Čady, Jolana, Callahan, Tiffany J., Cameron, Rhiannon, Carbon, Seth J., Castellanos, Francisco, Caufield, J. Harry, Chan, Lauren E., Chute, Christopher G., Cruz-Rojo, Jaime, Dahan-Oliel, Noémi, Davids, Jon R., de Dieuleveult, Maud, de Souza, Vinicius, de Vries, Bert B. A., de Vries, Esther, DePaulo, J. Raymond, Derfalvi, Beata, Dhombres, Ferdinand, Diaz-Byrd, Claudia, Dingemans, Alexander J. M., Donadille, Bruno, Duyzend, Michael, Elfeky, Reem, Essaid, Shahim, Fabrizzi, Carolina, Fico, Giovanna, Firth, Helen V., Freudenberg-Hua, Yun, Fullerton, Janice M., Gabriel, Davera L., Gilmour, Kimberly, Giordano, Jessica, Goes, Fernando S., Gore Moses, Rachel, Green, Ian, Griese, Matthias, Groza, Tudor, Gu, Weihong, Guthrie, Julia, Gyori, Benjamin, Hamosh, Ada, Hanauer, Marc, Hanušová, Kateřina, He, Yongqun Oliver, Hegde, Harshad, Helbig, Ingo, Holasová, Kateřina, Hoyt, Charles Tapley, Huang, Shangzhi, Hurwitz, Eric, Jacobsen, Julius O. B., Jiang, Xiaofeng, Joseph, Lisa, Keramatian, Kamyar, King, Bryan, Knoflach, Katrin, Koolen, David A., Kraus, Megan L., Kroll, Carlo, Kusters, Maaike, Ladewig, Markus S., Lagorce, David, Lai, Meng-Chuan, Lapunzina, Pablo, Laraway, Bryan, Lewis-Smith, David, Li, Xiarong, Lucano, Caterina, Majd, Marzieh, Marazita, Mary L., Martinez-Glez, Victor, McHenry, Toby H., McInnis, Melvin G., McMurry, Julie A., Mihulová, Michaela, Millett, Caitlin E., Mitchell, Philip B., Moslerová, Veronika, Narutomi, Kenji, Nematollahi, Shahrzad, Nevado, Julian, Nierenberg, Andrew A., Novák Čajbiková, Nikola, Nurnberger, John I., Jr., Ogishima, Soichi, Olson, Daniel, Ortiz, Abigail, Pachajoa, Harry, Perez de Nanclares, Guiomar, Peters, Amy, Putman, Tim, Rapp, Christina K., Rath, Ana, Reese, Justin, Rekerle, Lauren, Roberts, Angharad M., Roy, Suzy, Sanders, Stephan J., Schuetz, Catharina, Schulte, Eva C., Schulze, Thomas G., Schwarz, Martin, Scott, Katie, Seelow, Dominik, Seitz, Berthold, Shen, Yiping, Similuk, Morgan N., Simon, Eric S., Singh, Balwinder, Smedley, Damian, Smith, Cynthia L., Smolinsky, Jake T., Sperry, Sarah, Stafford, Elizabeth, Stefancsik, Ray, Steinhaus, Robin, Strawbridge, Rebecca, Sundaramurthi, Jagadish Chandrabose, Talapova, Polina, Tenorio Castano, Jair A., Tesner, Pavel, Thomas, Rhys H., Thurm, Audrey, Turnovec, Marek, van Gijn, Marielle E., Vasilevsky, Nicole A., Vlčková, Markéta, Walden, Anita, Wang, Kai, Wapner, Ron, Ware, James S., Wiafe, Addo A., Wiafe, Samuel A., Wiggins, Lisa D., Williams, Andrew E., Wu, Chen, Wyrwoll, Margot J., Xiong, Hui, Yalin, Nefize, Yamamoto, Yasunori, Yatham, Lakshmi N., Yocum, Anastasia K., Young, Allan H., Yüksel, Zafer, Zandi, Peter P., Zankl, Andreas, Zarante, Ignacio, Zvolský, Miroslav, Toro, Sabrina, Carmody, Leigh C., Harris, Nomi L., Munoz-Torres, Monica C., Danis, Daniel, Mungall, Christopher J., Köhler, Sebastian, Haendel, Melissa A., Robinson, Peter N.

المساهمون: Psychiatry, School of Medicine

المصدر: PMC

مصطلحات موضوعية: Algorithms, Biological ontologies, Genomics, Phenotype, Rare diseases

وصف الملف: application/pdf

Relation: Nucleic Acids Research; Gargano MA, Matentzoglu N, Coleman B, et al. The Human Phenotype Ontology in 2024: phenotypes around the world. Nucleic Acids Res. 2024;52(D1):D1333-D1346. doi:10.1093/nar/gkad1005; https://hdl.handle.net/1805/40981

الاتاحة: https://hdl.handle.net/1805/40981

المؤلفون: Michael A Gargano, Nicolas Matentzoglu, Ben Coleman, Eunice B Addo-Lartey, Anna V Anagnostopoulos, Joel Anderton, Paul Avillach, Anita M Bagley, Eduard Bakštein, James P Balhoff, Gareth Baynam, Susan M Bello, Michael Berk, Holli Bertram, Somer Bishop, Hannah Blau, David F Bodenstein, Pablo Botas, Kaan Boztug, Jolana Čady, Tiffany J Callahan, Rhiannon Cameron, Seth J Carbon, Francisco Castellanos, J Harry Caufield, Lauren E Chan, Christopher G Chute, Jaime Cruz-Rojo, Noémi Dahan-Oliel, Jon R Davids, Maudde Dieuleveult, Viniciusde Souza, Bert BA de Vries, Estherde Vries, J Raymond DePaulo, Beata Derfalvi, Ferdinand Dhombres, Claudia Diaz-Byrd, Alexander JM Dingemans, Bruno Donadille, Michael Duyzend, Reem Elfeky, Shahim Essaid, Carolina Fabrizzi, Giovanna Fico, Helen V Firth, Yun Freudenberg-Hua, Janice M Fullerton, Davera L Gabriel, Kimberly Gilmour, Jessica Giordano, Fernando S Goes, Rachel Gore Moses, Ian Green, Matthias Griese, Tudor Groza, Weihong Gu, Julia Guthrie, Benjamin Gyori, Ada Hamosh, Marc Hanauer, Kateřina Hanušová, Yongqun He, Harshad Hegde, Ingo Helbig, Kateřina Holasová, Charles Tapley Hoyt, Shangzhi Huang, Eric Hurwitz, Julius OB Jacobsen, Xiaofeng Jiang, Lisa Joseph, Kamyar Keramatian, Bryan King, Katrin Knoflach, David A Koolen, Megan L Kraus, Carlo Kroll, Maaike Kusters, Markus S Ladewig, David Lagorce, Meng Chuan Lai, Pablo Lapunzina, Bryan Laraway, David Lewis-Smith, Xiarong Li, Caterina Lucano, Marzieh Majd, Mary L Marazita, Victor Martinez-Glez, Toby H McHenry, Melvin G McInnis, Julie A McMurry, Michaela Mihulová, Caitlin E Millett, Philip B Mitchell, Veronika Moslerová, Kenji Narutomi, Shahrzad Nematollahi, Julian Nevado, Andrew A Nierenberg, Nikola Novák Čajbiková, John I Nurnberger, Soichi Ogishima, Daniel Olson, Abigail Ortiz, Harry Pachajoa, Guiomar Perezde Nanclares, Amy Peters, Tim Putman, Christina K Rapp, Ana Rath, Justin Reese, Lauren Rekerle, Angharad M Roberts, Suzy Roy, Stephan J Sanders, Catharina Schuetz, Eva C Schulte, Thomas G Schulze, Martin Schwarz, Katie Scott, Dominik Seelow, Berthold Seitz, Yiping Shen, Morgan N Similuk, Eric S Simon, Balwinder Singh, Damian Smedley, Cynthia L Smith, Jake T Smolinsky, Sarah Sperry, Elizabeth Stafford, Ray Stefancsik, Robin Steinhaus, Rebecca Strawbridge, Jagadish Chandrabose Sundaramurthi, Polina Talapova, Jair A Tenorio Castano, Pavel Tesner, Rhys H Thomas, Audrey Thurm, Marek Turnovec, Marielle E van Gijn, Nicole A Vasilevsky, Markéta Vlčková, Anita Walden, Kai Wang, Ron Wapner, James S Ware, Addo A Wiafe, Samuel A Wiafe, Lisa D Wiggins, Andrew E Williams, Chen Wu, Margot J Wyrwoll, Hui Xiong, Nefize Yalin, Yasunori Yamamoto, Lakshmi N Yatham, Anastasia K Yocum, Allan H Young, Zafer Yüksel, Peter P Zandi, Andreas Zankl, Ignacio Zarante, Miroslav Zvolský, Sabrina Toro, Leigh C Carmody, Nomi L Harris, Monica C Munoz-Torres, Daniel Danis, Christopher J Mungall, Sebastian Köhler, Melissa A Haendel, Peter N Robinson

مصطلحات موضوعية: Biological sciences, Chemical sciences, Environmental sciences, Information and computing sciences, 200409 Mental health, School of Medicine, Faculty of Health, Institute for Innovation in Mental and Physical Health and Clinical Translation

Relation: http://hdl.handle.net/10779/DRO/DU:24562858.v2; https://figshare.com/articles/journal_contribution/The_Human_Phenotype_Ontology_in_2024_phenotypes_around_the_world/24562858

الاتاحة: http://hdl.handle.net/10779/DRO/DU:24562858.v2
https://figshare.com/articles/journal_contribution/The_Human_Phenotype_Ontology_in_2024_phenotypes_around_the_world/24562858

المؤلفون: Gargano, Michael A, Matentzoglu, Nicolas, Coleman, Ben, Addo-Lartey, Eunice B, Anagnostopoulos, Anna V, Anderton, Joel, Avillach, Paul, Bagley, Anita M, Bakštein, Eduard, Balhoff, James P, Baynam, Gareth, Bello, Susan M, Berk, Michael, Bertram, Holli, Bishop, Somer, Blau, Hannah, Bodenstein, David F, Botas, Pablo, Boztug, Kaan, Čady, Jolana, Callahan, Tiffany J, Cameron, Rhiannon, Carbon, Seth J, Castellanos, Francisco, Caufield, J Harry, Chan, Lauren E, Chute, Christopher G, Cruz-Rojo, Jaime, Dahan-Oliel, Noémi, Davids, Jon R, de Dieuleveult, Maud, de Souza, Vinicius, de Vries, Bert B A, de Vries, Esther, DePaulo, J Raymond, Derfalvi, Beata, Dhombres, Ferdinand, Diaz-Byrd, Claudia, Dingemans, Alexander J M, Donadille, Bruno, Duyzend, Michael, Elfeky, Reem, Essaid, Shahim, Fabrizzi, Carolina, Fico, Giovanna, Firth, Helen V, Freudenberg-Hua, Yun, Fullerton, Janice M, Gabriel, Davera L, Gilmour, Kimberly, Giordano, Jessica, Goes, Fernando S, Moses, Rachel Gore, Green, Ian, Griese, Matthias, Groza, Tudor, Gu, Weihong, Guthrie, Julia, Gyori, Benjamin, Hamosh, Ada, Hanauer, Marc, Hanušová, Kateřina, He, Yongqun (Oliver), Hegde, Harshad, Helbig, Ingo, Holasová, Kateřina, Hoyt, Charles Tapley, Huang, Shangzhi, Hurwitz, Eric, Jacobsen, Julius O B, Jiang, Xiaofeng, Joseph, Lisa, Keramatian, Kamyar, King, Bryan, Knoflach, Katrin, Koolen, David A, Kraus, Megan L, Kroll, Carlo, Kusters, Maaike, Ladewig, Markus S, Lagorce, David, Lai, Meng-Chuan, Lapunzina, Pablo, Laraway, Bryan, Lewis-Smith, David, Li, Xiarong, Lucano, Caterina, Majd, Marzieh, Marazita, Mary L, Martinez-Glez, Victor, McHenry, Toby H, McInnis, Melvin G, McMurry, Julie A, Mihulová, Michaela, Millett, Caitlin E, Mitchell, Philip B, Moslerová, Veronika, Narutomi, Kenji, Nematollahi, Shahrzad, Nevado, Julian, Nierenberg, Andrew A, Čajbiková, Nikola Novák, Nurnberger, John I, Jr., Ogishima, Soichi, Olson, Daniel, Ortiz, Abigail, Pachajoa, Harry, Perez de Nanclares, Guiomar, Peters, Amy, Putman, Tim, Rapp, Christina K, Rath, Ana, Reese, Justin, Rekerle, Lauren, Roberts, Angharad M, Roy, Suzy, Sanders, Stephan J, Schuetz, Catharina, Schulte, Eva C, Schulze, Thomas G, Schwarz, Martin, Scott, Katie, Seelow, Dominik, Seitz, Berthold, Shen, Yiping, Similuk, Morgan N, Simon, Eric S, Singh, Balwinder, Smedley, Damian, Smith, Cynthia L, Smolinsky, Jake T, Sperry, Sarah, Stafford, Elizabeth, Stefancsik, Ray, Steinhaus, Robin, Strawbridge, Rebecca, Sundaramurthi, Jagadish Chandrabose, Talapova, Polina, Tenorio Castano, Jair A, Tesner, Pavel, Thomas, Rhys H, Thurm, Audrey, Turnovec, Marek, van Gijn, Marielle E, Vasilevsky, Nicole A, Vlčková, Markéta, Walden, Anita, Wang, Kai, Wapner, Ron, Ware, James S, Wiafe, Addo A, Wiafe, Samuel A, Wiggins, Lisa D, Williams, Andrew E, Wu, Chen, Wyrwoll, Margot J, Xiong, Hui, Yalin, Nefize, Yamamoto, Yasunori, Yatham, Lakshmi N, Yocum, Anastasia K, Young, Allan H, Yüksel, Zafer, Zandi, Peter P, Zankl, Andreas, Zarante, Ignacio, Zvolský, Miroslav, Toro, Sabrina, Carmody, Leigh C, Harris, Nomi L, Munoz-Torres, Monica C, Danis, Daniel, Mungall, Christopher J, Köhler, Sebastian, Haendel, Melissa A, Robinson, Peter N

وصف الملف: text/xml; application/zip; application/pdf

Relation: https://www.repository.cam.ac.uk/handle/1810/378797

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/378797