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1دورية أكاديمية
المؤلفون: Barbara Siri, Giorgia Olivieri, Francesca Romana Lepri, Martin Poms, Bianca Maria Goffredo, Anna Commone, Antonio Novelli, Johannes Häberle, Carlo Dionisi-Vici
المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-8 (2024)
مصطلحات موضوعية: Ornithine transcarbamylase deficiency (OTCD), X-Linked, Father-to-daughter transmission, Hyperammonemia, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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2
المؤلفون: Zahid, Maya, Khan, Aysha Habib, Md Yunus, Zabedah, Chen, Bee Chin, Steinmann, Beat, Johannes, Haberle, Afroze, Bushra
المساهمون: University of Zurich, Afroze, Bushra
مصطلحات موضوعية: 10036 Medical Clinic, 610 Medicine & health, 2700 General Medicine
وصف الملف: 9090.pdf - application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=od_______885::55a01722abd75878126762935a4c8964
https://doi.org/10.5167/uzh-183234 -
3دورية أكاديمية
المؤلفون: Georgios Makris, Semih Kayhan, Marvin Kreuzer, Véronique Rüfenacht, Erica Faccin, Jarl Underhaug, Carmen Diez‐Fernandez, Philip A. Knobel, Martin Poms, Nadine Gougeard, Vicente Rubio, Aurora Martinez, Martin Pruschy, Johannes Häberle
المصدر: Cancer Communications, Vol 43, Iss 4, Pp 508-512 (2023)
مصطلحات موضوعية: Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2523-3548
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4دورية أكاديمية
المؤلفون: Sereina Deplazes, Andrea Schlegel, Zhuolun Song, Gabriella Allegri, Nicole Rimann, Tanja Scherer, Melanie Willimann, Lennart Opitz, Sharon C. Cunningham, Ian E. Alexander, Anja Kipar, Johannes Häberle, Beat Thöny, Hiu Man Grisch-Chan
المصدر: Molecular Therapy: Methods & Clinical Development, Vol 27, Iss , Pp 352-367 (2022)
مصطلحات موضوعية: hydrodynamic retrograde intrabiliary injection, liver-directed gene therapy, non-viral, naked DNA minicircle vector, urea cycle disorder, OTC deficiency, Genetics, QH426-470, Cytology, QH573-671
وصف الملف: electronic resource
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5
المؤلفون: C Hollak, Walker, Stefan Kölker, Johannes Haberle, Robin H. Lachmann
المصدر: Oxford Medicine Online ISBN: 9780199972135
مصطلحات موضوعية: Biochemistry, business.industry, Urea cycle, Medicine, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::02861d06b45f8d74f738e412147293d9
https://doi.org/10.1093/med/9780199972135.001.0001 -
6دورية أكاديمية
المؤلفون: Leandro R. Soria, Georgios Makris, Alfonso M. D’Alessio, Angela De Angelis, Iolanda Boffa, Veronica M. Pravata, Véronique Rüfenacht, Sergio Attanasio, Edoardo Nusco, Paola Arena, Andrew T. Ferenbach, Debora Paris, Paola Cuomo, Andrea Motta, Matthew Nitzahn, Gerald S. Lipshutz, Ainhoa Martínez-Pizarro, Eva Richard, Lourdes R. Desviat, Johannes Häberle, Daan M. F. van Aalten, Nicola Brunetti-Pierri
المصدر: Nature Communications, Vol 13, Iss 1, Pp 1-14 (2022)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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7دورية أكاديمية
المؤلفون: Vicente A. Yépez, Mirjana Gusic, Robert Kopajtich, Christian Mertes, Nicholas H. Smith, Charlotte L. Alston, Rui Ban, Skadi Beblo, Riccardo Berutti, Holger Blessing, Elżbieta Ciara, Felix Distelmaier, Peter Freisinger, Johannes Häberle, Susan J. Hayflick, Maja Hempel, Yulia S. Itkis, Yoshihito Kishita, Thomas Klopstock, Tatiana D. Krylova, Costanza Lamperti, Dominic Lenz, Christine Makowski, Signe Mosegaard, Michaela F. Müller, Gerard Muñoz-Pujol, Agnieszka Nadel, Akira Ohtake, Yasushi Okazaki, Elena Procopio, Thomas Schwarzmayr, Joél Smet, Christian Staufner, Sarah L. Stenton, Tim M. Strom, Caterina Terrile, Frederic Tort, Rudy Van Coster, Arnaud Vanlander, Matias Wagner, Manting Xu, Fang Fang, Daniele Ghezzi, Johannes A. Mayr, Dorota Piekutowska-Abramczuk, Antonia Ribes, Agnès Rötig, Robert W. Taylor, Saskia B. Wortmann, Kei Murayama, Thomas Meitinger, Julien Gagneur, Holger Prokisch
المصدر: Genome Medicine, Vol 14, Iss 1, Pp 1-26 (2022)
مصطلحات موضوعية: RNA-seq, Genetic diagnostics, Mendelian diseases, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1756-994X
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8دورية أكاديمية
المؤلفون: Tatjana Chan, Hiu Man Grisch-Chan, Philipp Schmierer, Ulrike Subotic, Nicole Rimann, Tanja Scherer, Udo Hetzel, Matthias Bozza, Richard Harbottle, James A. Williams, Barbara Steblaj, Simone K. Ringer, Johannes Häberle, Xaver Sidler, Beat Thöny
المصدر: Molecular Therapy: Methods & Clinical Development, Vol 24, Iss , Pp 268-279 (2022)
مصطلحات موضوعية: pig, liver gene therapy, hydrodynamic intrabiliary injection, non-viral, DNA-vector, bile duct, Genetics, QH426-470, Cytology, QH573-671
وصف الملف: electronic resource
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9دورية أكاديمية
المؤلفون: Florin Bösch, Markus A. Landolt, Matthias R. Baumgartner, Susana Fernandez, Patrick Forny, Matthias Gautschi, Sarah C. Grünert, Johannes Häberle, Carolina Horvath, Daniela Karall, Danila Lampis, Marianne Rohrbach, Sabine Scholl-Bürgi, Gabor Szinnai, Martina Huemer
المصدر: Molecular Genetics and Metabolism Reports, Vol 31, Iss , Pp 100876- (2022)
مصطلحات موضوعية: Health-related quality of life, Caregiver burden, Disease severity, Inborn errors of metabolism, Organic acidurias, Urea cycle disorders, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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10دورية أكاديمية
المؤلفون: Silene M. Silvera-Ruiz, Corinne Gemperle, Natalia Peano, Valentina Olivero, Adriana Becerra, Johannes Häberle, Adriana Gruppi, Laura E. Larovere, Ruben D. Motrich
المصدر: Frontiers in Immunology, Vol 13 (2022)
مصطلحات موضوعية: urea cycle defects, HHH syndrome, infection, hyperammonemia, immunodeficiency, T cells, Immunologic diseases. Allergy, RC581-607
وصف الملف: electronic resource