المؤلفون: Das, Anibh M., Ballhausen, Diana, Haas, Dorothea, Häberle, Johannes, Hagedorn, Tobias, Janson‐Mutsaerts, Cecilia, Janzen, Nils, Sander, Johannes, Freisinger, Peter, Karall, Daniela, Meyer, Uta, Mönch, Eberhard, Morlot, Susanne, Rosenbaum-Fabian, Stefanie, Scholl-Bürgi, Sabine, Dahl, Stephan vom, Weinhold, Natalie, Zeman, Jiri, Lange, Karin

المصدر: Journal of inherited metabolic disease. - 48, 1 (2025) , e12824, ISSN: 1573-2665

وصف الملف: pdf

Relation: https://freidok.uni-freiburg.de/data/261166

الاتاحة: https://freidok.uni-freiburg.de/data/261166
https://nbn-resolving.org/urn:nbn:de:bsz:25-freidok-2611667
https://doi.org/10.1002/jimd.12824
https://freidok.uni-freiburg.de/dnb/download/261166

المؤلفون: Schmidt, Bernd, Zeman, Jiří

مصطلحات موضوعية: Mathematics - Analysis of PDEs, Condensed Matter - Mesoscale and Nanoscale Physics, Condensed Matter - Materials Science, 74K10, 49J45

URL الوصول: http://arxiv.org/abs/2208.04199

المؤلفون: Schmidt, Bernd, Zeman, Jiří

مصطلحات موضوعية: Mathematics - Analysis of PDEs, Condensed Matter - Mesoscale and Nanoscale Physics, Condensed Matter - Materials Science, Mathematical Physics, 74K10, 49J45, 74R10, 70G75

URL الوصول: http://arxiv.org/abs/2208.04195

المؤلفون: Kružík, Martin, Zeman, Jiří

مصطلحات موضوعية: Mathematics - Analysis of PDEs

URL الوصول: http://arxiv.org/abs/2012.15325

المؤلفون: de Ru Minke H, Teunissen Quirine GA, van der Lee Johanna H, Beck Michael, Bodamer Olaf A, Clarke Lorne A, Hollak Carla E, Lin Shuan-Pei, Rojas Maria-Verónica, Pastores Gregory M, Raiman Julian A, Scarpa Maurizio, Treacy Eileen P, Tylki-Szymanska Anna, Wraith J Edmond, Zeman Jiri, Wijburg Frits A

المصدر: Orphanet Journal of Rare Diseases, Vol 7, Iss 1, p 22 (2012)

مصطلحات موضوعية: Mucopolysaccharidosis type I, Iduronidase, Classification, Consensus, Phenotype, Hematopoietic stem cell transplantation, Medicine

وصف الملف: electronic resource

Relation: http://www.ojrd.com/content/7/1/22; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/a2524b6560c6437e8c0c754a1378af8c

المؤلفون: Scarpa Maurizio, Almássy Zsuzsanna, Beck Michael, Bodamer Olaf, Bruce Iain A, De Meirleir Linda, Guffon Nathalie, Guillén-Navarro Encarna, Hensman Pauline, Jones Simon, Kamin Wolfgang, Kampmann Christoph, Lampe Christina, Lavery Christine A, Leão Teles Elisa, Link Bianca, Lund Allan M, Malm Gunilla, Pitz Susanne, Rothera Michael, Stewart Catherine, Tylki-Szymańska Anna, van der Ploeg Ans, Walker Robert, Zeman Jiri, Wraith James E

المصدر: Orphanet Journal of Rare Diseases, Vol 6, Iss 1, p 72 (2011)

مصطلحات موضوعية: Medicine

وصف الملف: electronic resource

Relation: http://www.ojrd.com/content/6/1/72; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/d63f77a4e8594226848dbc59023465a9

المؤلفون: Korandová, Zuzana, Pecina, Petr, Pecinová, Alena, Koňaříková, Eliška, Tesařová, Markéta, Houštěk, Josef, Hansíková, Hana, Ptáčková, Hana, Zeman, Jiří, Honzík, Tomáš, Mráček, Tomáš

المصدر: Analytical Biochemistry ; page 115745 ; ISSN 0003-2697

الاتاحة: https://doi.org/10.1016/j.ab.2024.115745
https://api.elsevier.com/content/article/PII:S0003269724002896?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0003269724002896?httpAccept=text/plain

المؤلفون: Hong, Yu, Zhang, Zhuoyuan, Yangzom, Tsering, Chen, Anbin, Lundberg, Bjørn Christian, Fang, Fei, Siller, Richard, Sullivan, Gareth John, Zeman, Jiri, Tzoulis, Charalampos, Bindoff, Laurence Albert, Liang, Xiao

المصدر: International Journal of Biological Sciences ; 1194-1217 ; 20 ; 4

وصف الملف: application/pdf

Relation: https://hdl.handle.net/11250/3156309; https://doi.org/10.7150/ijbs.91624; cristin:2249785

الاتاحة: https://hdl.handle.net/11250/3156309
https://doi.org/10.7150/ijbs.91624

المؤلفون: Posset, Roland, Garbade, Sven F., Gleich, Florian, Scharre, Svenja, Okun, J. rgen G., Gropman, Andrea L., Nagamani, Sandesh C. S., Druck, Ann-Catrin, Epp, Friederike, Hoffmann, Georg F., Kölker, Stefan, Zielonka, Matthias, Mew, Nicholas Ah, Seminara, Jennifer, Burrage, Lindsay C., Berry, Gerard T., Breilyn, Margo, Schulze, Andreas, Harding, Cary O., Berry, Susan A., Wong, Derek, McCandless, Shawn E., Baumgartner, Matthias R., Konczal, Laura, Ficicioglu, Can, Diaz, George A., Coughlin, Curtis R., Enns, Gregory M., Gallagher, Renata C., Lam, Christina, Stricker, Tamar, Wilkening, Greta, Dionisi-Vici, Carlo, Dobbelaere, Dries, Blasco-Alonso, Javier, Burlina, Alberto B., Freisinger, Peter, van Hasselt, Peter M., Skouma, Anastasia, Lund, Allan M., Vara, Roshni, Sarajlija, Adrijan, Morris, Andrew A., Chakrapani, Anupam, Barić, Ivo, Augoustides-Savvopoulou, Persephone, Chien, Yin-Hsiu, Cortès-Saladelafont, Elisenda, Eyskens, Francois, Gramer, Gwendolyn, Zeman, Jiri, Karall, Daniela, Couce, Maria L., Mühlhausen, Chris, Pedrón-Giner, Consuelo, Spiekerkoetter, Ute, Sykut-Cegielska, Jolanta

المصدر: Posset , R , Garbade , S F , Gleich , F , Scharre , S , Okun , J R G , Gropman , A L , Nagamani , S C S , Druck , A-C , Epp , F , Hoffmann , G F , Kölker , S , Zielonka , M , Mew , N A , Seminara , J , Burrage , L C , Berry , G T , Breilyn , M , Schulze , A , Harding , C O , Berry , S A , Wong , D , McCandless , S ....

الاتاحة: https://research.vumc.nl/en/publications/d702feaf-b910-41a7-a4bd-a0bfa07d75a2
https://doi.org/10.1016/j.gim.2023.101039
http://www.scopus.com/inward/record.url?scp=85185265325&partnerID=8YFLogxK

المؤلفون: Stiburkova, Blanka, Lukesova, Marketa, Zeman, Jiri

المساهمون: Ministry of Education Youth and Sports of the Czech Republic, Ministry of Health of the Czech Republic

المصدر: Joint Bone Spine ; volume 92, issue 1, page 105796 ; ISSN 1297-319X

الاتاحة: https://doi.org/10.1016/j.jbspin.2024.105796
https://api.elsevier.com/content/article/PII:S1297319X24001076?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1297319X24001076?httpAccept=text/plain

المؤلفون: Himmelreich, Nastassja, Bertoldi, Mariarita, Alfadhel, Majid, Alghamdi, Malak Ali, Anikster, Yair, Bao, Xinhua, Bashiri, Fahad A, Zeev, Bruria Ben, Bisello, Giovanni, Ceylan, Ahmet Cevdet, Chien, Yin-Hsiu, Choy, Yew Sing, Elsea, Sarah H, Flint, Lisa, García-Cazorla, Àngels, Gijavanekar, Charul, Gümüş, Emel Yılmaz, Hamad, Muddathir H, Hişmi, Burcu, Honzik, Tomas, Hübschmann, Oya Kuseyri, Hwu, Wuh-Liang, Ibáñez-Micó, Salvador, Jeltsch, Kathrin, Juliá-Palacios, Natalia, Kasapkara, Çiğdem Seher, Kurian, Manju A, Kusmierska, Katarzyna, Liu, Ning, Ngu, Lock Hock, Odom, John D, Ong, Winnie Peitee, Opladen, Thomas, Oppeboen, Mari, Pearl, Phillip L, Pérez, Belén, Pons, Roser, Rygiel, Agnieszka Magdalena, Shien, Tan Ee, Spaull, Robert, Sykut-Cegielska, Jolanta, Tabarki, Brahim, Tangeraas, Trine, Thöny, Beat, Wassenberg, Tessa, Wen, Yongxin, Yakob, Yusnita, Yin, Jasmine Goh Chew, Zeman, Jiri, Blau, Nenad

المساهمون: Himmelreich, Nastassja, Bertoldi, Mariarita, Alfadhel, Majid, Alghamdi, Malak Ali, Anikster, Yair, Bao, Xinhua, Bashiri, Fahad A, Zeev, Bruria Ben, Bisello, Giovanni, Ceylan, Ahmet Cevdet, Chien, Yin-Hsiu, Choy, Yew Sing, Elsea, Sarah H, Flint, Lisa, García-Cazorla, Àngel, Gijavanekar, Charul, Gümüş, Emel Yılmaz, Hamad, Muddathir H, Hişmi, Burcu, Honzik, Toma, Hübschmann, Oya Kuseyri, Hwu, Wuh-Liang, Ibáñez-Micó, Salvador, Jeltsch, Kathrin, Juliá-Palacios, Natalia, Kasapkara, Çiğdem Seher, Kurian, Manju A, Kusmierska, Katarzyna, Liu, Ning, Ngu, Lock Hock, Odom, John D, Ong, Winnie Peitee, Opladen, Thoma, Oppeboen, Mari, Pearl, Phillip L, Pérez, Belén, Pons, Roser, Rygiel, Agnieszka Magdalena, Shien, Tan Ee, Spaull, Robert, Sykut-Cegielska, Jolanta, Tabarki, Brahim, Tangeraas, Trine, Thöny, Beat, Wassenberg, Tessa, Wen, Yongxin, Yakob, Yusnita, Yin, Jasmine Goh Chew, Zeman, Jiri, Blau, Nenad

مصطلحات موضوعية: ACMG, Dopamine, Neurotransmitter disorder, Serotonin, Variant effect prediction

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/37348148; info:eu-repo/semantics/altIdentifier/wos/WOS:001037197400001; volume:139; issue:3; firstpage:1; lastpage:9; numberofpages:9; journal:MOLECULAR GENETICS AND METABOLISM; https://hdl.handle.net/11562/1097586; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85162242618; https://doi.org/10.1016/j.ymgme.2023.107624

الاتاحة: https://hdl.handle.net/11562/1097586
https://doi.org/10.1016/j.ymgme.2023.107624

المؤلفون: Posset, Roland, Garbade, Sven F, Boy, Nikolas, Burlina, Alberto B, Dionisi‐Vici, Carlo, Dobbelaere, Dries, Garcia‐Cazorla, Angeles, de Lonlay, Pascale, Teles, Elisa Leão, Vara, Roshni, Mew, Nicholas Ah, Batshaw, Mark L, Baumgartner, Matthias R, McCandless, Shawn E, Seminara, Jennifer, Summar, Marshall, Hoffmann, Georg F, Kölker, Stefan, Burgard, Peter, Berry, Susan A, Burrage, Lindsay, Coughlin, Curtis, Diaz, George A, Gallagher, Renata C, Gropman, Andrea, Harding, Cary O, Lee, Brendan, Le Mons, Cynthia, Lawrence Merritt, J, Nagamani, Sandesh CS, Schulze, Andreas, Stricker, Tamar, Tuchman, Mendel, Waisbren, Susan, WeisfeldAdams, James, Wong, Derek, Yudkoff, Marc, Arnoux, JeanBaptiste, Barić, Ivo, Bosch, Annet M, Chabrol, Brigitte, Chakrapani, Anupam, CortèsSaladefont, Elisenda, Couce, Maria L, Eyskens, Francois, Laet, Corine, Meirleir, Linda, Freisinger, Peter, Gleich, Florian, Grünewald, Stephanie, Häberle, Johannes, Hwu, WuhLiang, Jalan, Anil, Karall, Daniela, Lindner, Martin, Lund, Allan M, Martinelli, Diego, Murphy, Elaine, Mühlhausen, Chris, Olivieri, Giorgia, Ottolenghi, Chris, Rodrigues, Esmeralda, Rubert, Laura, Sarajlija, Adrijan, Schiff, Manuel, Sokal, Etienne, SykutCegielska, Jolanta, Walter, John H, Williams, Monique, Zeman, Jiri

المصدر: Journal of Inherited Metabolic Disease. 42(1)

مصطلحات موضوعية: Clinical Research, Pediatric, Digestive Diseases, Neurodegenerative, 4.2 Evaluation of markers and technologies, Detection, screening and diagnosis, Good Health and Well Being, Cohort Studies, Data Analysis, Delayed Diagnosis, Europe, Female, Humans, Infant, Newborn, Male, Neonatal Screening, North America, Ornithine Carbamoyltransferase Deficiency Disease, Rare Diseases, Urea, Urea Cycle Disorders, Inborn, Urea cycle Disorders, international registry and database, diagnostic methods, Additional individual contributors of the UCDC and the E-IMD consortium, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5h73x4jb

المؤلفون: Zeman, Jiří

المصدر: Stylistyka; Vol. 31 (2022): Styl i media - Style and media; 261-268 ; Stylistyka; Tom 31 (2022): Styl i media - Style and media; 261-268 ; 2545-1669 ; 1230-2287

وصف الملف: application/pdf

Relation: https://czasopisma.uni.opole.pl/index.php/s/article/view/5028/4385; https://czasopisma.uni.opole.pl/index.php/s/article/view/5028

الاتاحة: https://czasopisma.uni.opole.pl/index.php/s/article/view/5028

المؤلفون: Zeman, Jiří

المصدر: Stylistyka; Vol. 31 (2022): Styl i media - Style and media; 233-238 ; Stylistyka; Tom 31 (2022): Styl i media - Style and media; 233-238 ; 2545-1669 ; 1230-2287

وصف الملف: application/pdf

Relation: https://czasopisma.uni.opole.pl/index.php/s/article/view/5025/4382; https://czasopisma.uni.opole.pl/index.php/s/article/view/5025

الاتاحة: https://czasopisma.uni.opole.pl/index.php/s/article/view/5025

المؤلفون: Schmidt, Bernd, Zeman, Jiří

مصطلحات موضوعية: ddc:510

وصف الملف: application/pdf

الاتاحة: https://opus.bibliothek.uni-augsburg.de/opus4/frontdoor/index/index/docId/109747
https://nbn-resolving.org/urn:nbn:de:bvb:384-opus4-1097476
https://doi.org/10.1007/s00526-023-02562-y
https://opus.bibliothek.uni-augsburg.de/opus4/files/109747/109747.pdf

المؤلفون: Himmelreich, Nastassja, Bertoldi, Mariarita, Alfadhel, Majid, Alghamdi, Malak Ali, Anikster, Yair, Bao, Xinhua, Bashiri, Fahad A., Zeev, Bruria Ben, Bisello, Giovanni, Ceylan, Ahmet Cevdet, Chien, Yin Hsiu, Choy, Yew Sing, Elsea, Sarah H., Flint, Lisa, García-Cazorla, Àngels, Gijavanekar, Charul, Gümüş, Emel Yılmaz, Hamad, Muddathir H., Hişmi, Burcu, Honzik, Tomas, Kuseyri Hübschmann, Oya, Hwu, Wuh Liang, Ibáñez-Micó, Salvador, Jeltsch, Kathrin, Juliá-Palacios, Natalia, Kasapkara, Çiğdem Seher, Kurian, Manju A., Kusmierska, Katarzyna, Liu, Ning, Ngu, Lock Hock, Odom, John D., Ong, Winnie Peitee, Opladen, Thomas, Oppeboen, Mari, Pearl, Phillip L., Pérez, Belén, Pons, Roser, Rygiel, Agnieszka Magdalena, Shien, Tan Ee, Spaull, Robert, Sykut-Cegielska, Jolanta, Tabarki, Brahim, Tangeraas, Trine, Thöny, Beat, Wassenberg, Tessa, Wen, Yongxin, Yakob, Yusnita, Yin, Jasmine Goh Chew, Zeman, Jiri, Blau, Nenad

المصدر: Himmelreich , N , Bertoldi , M , Alfadhel , M , Alghamdi , M A , Anikster , Y , Bao , X , Bashiri , F A , Zeev , B B , Bisello , G , Ceylan , A C , Chien , Y H , Choy , Y S , Elsea , S H , Flint , L , García-Cazorla , À , Gijavanekar , C , Gümüş , E Y , Hamad , M H , Hişmi , B , Honzik , T , Kuseyri Hübschmann , O , Hwu , W L , ....

Relation: https://research-information.bris.ac.uk/en/publications/e124cba8-b376-4981-a0d4-a4fff9a86fab

الاتاحة: https://hdl.handle.net/1983/e124cba8-b376-4981-a0d4-a4fff9a86fab
https://research-information.bris.ac.uk/en/publications/e124cba8-b376-4981-a0d4-a4fff9a86fab
https://doi.org/10.1016/j.ymgme.2023.107647
http://www.scopus.com/inward/record.url?scp=85165039598&partnerID=8YFLogxK

المؤلفون: Waterham, Hans R., Koster, Janet, Ebberink, Merel S., Ješina, Pavel, Zeman, Jiri, Nosková, Lenka, Kmoch, Stanislav, Devic, Perrine, Cheillan, David, Wanders, Ronald J.A., Ferdinandusse, Sacha

المصدر: Genetics in Medicine ; volume 25, issue 11, page 100944 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1016/j.gim.2023.100944
https://api.elsevier.com/content/article/PII:S1098360023009577?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360023009577?httpAccept=text/plain

المؤلفون: Schmidt, Bernd, Zeman, Jiří

مصطلحات موضوعية: ddc:510

وصف الملف: application/pdf

Relation: https://doi.org/10.48550/arXiv.2208.04199

الاتاحة: https://opus.bibliothek.uni-augsburg.de/opus4/frontdoor/index/index/docId/101059
https://nbn-resolving.org/urn:nbn:de:bvb:384-opus4-1010595
https://doi.org/10.48550/arXiv.2208.04199
https://opus.bibliothek.uni-augsburg.de/opus4/files/101059/101059.pdf

المؤلفون: Vanišová, Marie, Matěj, Radoslav, Rusina, Robert, Štufková, Hana, Kohoutová, Michaela, Rákosníková, Tereza, Zeman, Jiří, Roth, Jan, Hansíková, Hana, Klempíř, Jiří

المصدر: A: Pathogenic mechanisms ; page A12.2-A12

الاتاحة: http://dx.doi.org/10.1136/jnnp-2024-ehdn.31
https://syndication.highwire.org/content/doi/10.1136/jnnp-2024-EHDN.31

المؤلفون: Vanisova, Marie, Stufkova, Hana, Kohoutova, Michaela, Rakosnikova, Tereza, Krizova, Jana, Klempir, Jiri, Rysankova, Irena, Roth, Jan, Zeman, Jiri, Hansikova, Hana

المساهمون: Ministry of education, youth and sports

المصدر: Ultrastructural Pathology ; volume 46, issue 5, page 462-475 ; ISSN 0191-3123 1521-0758

الاتاحة: http://dx.doi.org/10.1080/01913123.2022.2100951
https://www.tandfonline.com/doi/pdf/10.1080/01913123.2022.2100951