نتائج البحث - "Kusters, Maaike A"

1

دورية أكاديمية

The Human Phenotype Ontology in 2024: phenotypes around the world

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 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 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 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, Mihulová, Michaela, Millett, Caitlin E, Mitchell, Philip B, Moslerová, Veronika, Narutomi, Kenji, Nematollahi, Shahrzad, Nevado, Julian

المصدر: Nucleic Acids Research. 52(D1)

مصطلحات موضوعية: Biological Sciences, Genetics, Networking and Information Technology R&D (NITRD), Human Genome, Machine Learning and Artificial Intelligence, Good Health and Well Being, Humans, Biological Ontologies, Phenotype, Genomics, Algorithms, Rare Diseases, Environmental Sciences, Information and Computing Sciences, Developmental Biology, Biological sciences, Chemical sciences, Environmental sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/7956s6h6Test
https://escholarship.org/content/qt7956s6h6/qt7956s6h6.pdfTest

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2

دورية أكاديمية

The Human Phenotype Ontology in 2024: phenotypes around the world

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

العلاقة: 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/1805/40981Test

الإتاحة: https://doi.org/10.1093/nar/gkad1005Test
https://hdl.handle.net/1805/40981Test

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3

دورية أكاديمية

The Human Phenotype Ontology in 2024:phenotypes around the world

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

العلاقة: https://research.rug.nl/en/publications/53bfc48d-664b-48c8-aa1a-6eff4a812480Test

الإتاحة: https://doi.org/10.1093/nar/gkad1005Test
https://hdl.handle.net/11370/53bfc48d-664b-48c8-aa1a-6eff4a812480Test
https://research.rug.nl/en/publications/53bfc48d-664b-48c8-aa1a-6eff4a812480Test
https://pure.rug.nl/ws/files/925936582/The_Human_Phenotype_Ontology_in_2024-_phenotypes_around_the_world.pdfTest
http://www.scopus.com/inward/record.url?scp=85181760537&partnerID=8YFLogxKTest

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4

دورية أكاديمية

Non-osteopenic Bone Pathology After Allo-hematopoietic Stem Cell Transplantation in Patients with Inborn Errors of Immunity

المؤلفون: Golwala, Zainab M, Bhat, Nikita Gireesh, Xu-Bayford, Jinhua, Stankova, Tanja, Adams, Stuart, Morris, Emma C, Qasim, Waseem, Booth, Claire, Worth, Austen, Kusters, Maaike A, Elfeky, Reem

المصدر: Journal of Clinical Immunology (2023)

مصطلحات موضوعية: Bone marrow transplantation, Bone pathology, HSCT, Inborn errors of immunity, Long term follow-up, Osteochondroma, Osteopenia, Skeletal dysplasia, WAS

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10167119/1/s10875-023-01465-z.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10167119Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10167119/1/s10875-023-01465-z.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10167119Test/

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5

دورية أكاديمية

Hypomorphic RAG deficiency: impact of disease burden on survival and thymic recovery argues for early diagnosis and HSCT

المؤلفون: Schuetz, Catharina, Gerke, Julia, Ege, Markus Johannes, Walter, Jolan Eszter, Kusters, Maaike, Worth, Austen JJ, Kanakry, Jennifer A, Dimitrova, Dimana, Wolska-Kusnierz, Beata, Chen, Karin, Unal, Ekrem, Karakukcu, Musa, Pashchenko, Olga, Leiding, Jennifer W, Kawai, Tomoki, Amrolia, Persis Jal, Berghuis, Dagmar, Buechner, Jochen, Buchbinder, David, Cowan, Morton J, Gennery, Andrew R, Güngör, Tayfun, Heimall, Jennifer R, Miano, Maurizio, Meyts, Isabelle, Morris, Emma C, Rivière, Jacques G, Sharapova, Svetlana O, Shaw, Peter J, Slatter, Mary A, Honig, Manfred, Veys, Paul, Fischer, Alain, Cavazzana, Marina, Moshous, Despina, Schulz, Ansgar S, Albert, Michael H, Puck, Jennifer M, Lankester, Arjan C, Notarangelo, Luigi D, Neven, Bénédicte

المصدر: Blood , 141 (7) pp. 713-724. (2023)

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10158338/1/blood.2022017667.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10158338Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10158338/1/blood.2022017667.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10158338Test/

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6

دورية أكاديمية

Non-osteopenic Bone Pathology After Allo-hematopoietic Stem Cell Transplantation in Patients with Inborn Errors of Immunity

المؤلفون: Golwala, Zainab M., Bhat, Nikita Gireesh, Xu-Bayford, Jinhua, Stankova, Tanja, Adams, Stuart, Morris, Emma C., Qasim, Waseem, Booth, Claire, Worth, Austen, Kusters, Maaike A., Elfeky, Reem

المصدر: Journal of Clinical Immunology ; volume 43, issue 5, page 1019-1031 ; ISSN 0271-9142 1573-2592

مصطلحات موضوعية: Immunology, Immunology and Allergy

الإتاحة: https://doi.org/10.1007/s10875-023-01465-zTest

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7

دورية أكاديمية

Lung infections in immunocompromised children.

المؤلفون: Calder, Alistair D., Perucca, Giulia, Johnson, Sarah May, Pandey, Ashwin R., Moshal, Karyn, Kusters, Maaike A.

المصدر: Pediatric Radiology; Apr2024, Vol. 54 Issue 4, p530-547, 18p

مصطلحات موضوعية: LUNG infections, IMMUNOCOMPROMISED patients, CHILD mortality, DIFFERENTIAL diagnosis

8

دورية أكاديمية

Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity

المؤلفون: Haimel, Matthias, Pazmandi, Julia, Heredia, Raúl Jiménez, Dmytrus, Jasmin, Bal, Sevgi Köstel, Zoghi, Samaneh, van Daele, Paul, Briggs, Tracy A., Wouters, Carine, Bader-Meunier, Brigitte, Aeschlimann, Florence A., Caorsi, Roberta, Eleftheriou, Despina, Hoppenreijs, Esther, Salzer, Elisabeth, Bakhtiar, Shahrzad, Derfalvi, Beata, Saettini, Francesco, Kusters, Maaike A.A., Elfeky, Reem, Trück, Johannes, Rivière, Jacques G., van der Burg, Mirjam, Gattorno, Marco, Seidel, Markus G., Burns, Siobhan, Warnatz, Klaus, Hauck, Fabian, Brogan, Paul, Gilmour, Kimberly C., Schuetz, Catharina, Simon, Anna, Bock, Christoph, Hambleton, Sophie, de Vries, Esther, Robinson, Peter N., van Gijn, Marielle, Boztug, Kaan

المصدر: Haimel , M , Pazmandi , J , Heredia , R J , Dmytrus , J , Bal , S K , Zoghi , S , van Daele , P , Briggs , T A , Wouters , C , Bader-Meunier , B , Aeschlimann , F A , Caorsi , R , Eleftheriou , D , Hoppenreijs , E , Salzer , E , Bakhtiar , S , Derfalvi , B , Saettini , F , Kusters , M A A , Elfeky , R , Trück , J , Rivière , J G , van der Burg ....

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

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/be846a2f-c196-487f-8d93-9494052f3cb3Test

الإتاحة: https://doi.org/10.1016/j.jaci.2021.04.033Test
https://pure.eur.nl/en/publications/be846a2f-c196-487f-8d93-9494052f3cb3Test
https://pure.eur.nl/ws/files/45358912/Curation_and_expansion_of_Human_Phenotype_Ontology_for_defined_groups_of_inborn_errors_of_immunity.pdfTest
http://www.scopus.com/inward/record.url?scp=85119491997&partnerID=8YFLogxKTest

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