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1دورية أكاديمية
المؤلفون: Andreas Mock, Maria-Veronica Teleanu, Simon Kreutzfeldt, Christoph E. Heilig, Jennifer Hüllein, Lino Möhrmann, Arne Jahn, Dorothea Hanf, Irina A. Kerle, Hans Martin Singh, Barbara Hutter, Sebastian Uhrig, Martina Fröhlich, Olaf Neumann, Andreas Hartig, Sascha Brückmann, Steffen Hirsch, Kerstin Grund, Nicola Dikow, Daniel B. Lipka, Marcus Renner, Irfan Ahmed Bhatti, Leonidas Apostolidis, Richard F. Schlenk, Christian P. Schaaf, Albrecht Stenzinger, Evelin Schröck, Daniel Hübschmann, Christoph Heining, Peter Horak, Hanno Glimm, Stefan Fröhling
المصدر: npj Precision Oncology, Vol 7, Iss 1, Pp 1-15 (2023)
مصطلحات موضوعية: Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2397-768X
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2دورية أكاديمية
المؤلفون: Laura Dötsch, Lisa Matesevac, Theresa V. Strong, Christian P. Schaaf
المصدر: Molecular Genetics & Genomic Medicine, Vol 11, Iss 12, Pp n/a-n/a (2023)
مصطلحات موضوعية: disease burden, neurodevelopmental disorders, Schaaf‐Yang syndrome, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2324-9269
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3دورية أكاديمية
المصدر: Hereditary Cancer in Clinical Practice, Vol 21, Iss 1, Pp 1-9 (2023)
مصطلحات موضوعية: BRCA1, BRCA2, Founder variants, Breast cancer, Jordan, Customized screening panel, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1897-4287
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4دورية أكاديمية
المؤلفون: Mai Iwasaki, Arthur Lefevre, Ferdinand Althammer, Etienne Clauss Creusot, Olga Łąpieś, Hugues Petitjean, Louis Hilfiger, Damien Kerspern, Meggane Melchior, Stephanie Küppers, Quirin Krabichler, Ryan Patwell, Alan Kania, Tim Gruber, Matthew K. Kirchner, Moritz Wimmer, Henning Fröhlich, Laura Dötsch, Jonas Schimmer, Sabine C. Herpertz, Beate Ditzen, Christian P. Schaaf, Kai Schönig, Dusan Bartsch, Anna Gugula, Aleksandra Trenk, Anna Blasiak, Javier E. Stern, Pascal Darbon, Valery Grinevich, Alexandre Charlet
المصدر: Nature Communications, Vol 14, Iss 1, Pp 1-20 (2023)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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5دورية أكاديمية
المؤلفون: Julian Schröter, Tal Dattner, Jennifer Hüllein, Alejandra Jayme, Vincent Heuveline, Georg F. Hoffmann, Stefan Kölker, Dominic Lenz, Thomas Opladen, Bernt Popp, Christian P. Schaaf, Christian Staufner, Steffen Syrbe, Sebastian Uhrig, Daniel Hübschmann, Heiko Brennenstuhl
المصدر: Computational and Structural Biotechnology Journal, Vol 21, Iss , Pp 1077-1083 (2023)
مصطلحات موضوعية: Pathogenicity scores, Variant effect prediction, Variant assessment, Computational genetics, Biotechnology, TP248.13-248.65
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Bo Yuan, Katharina V. Schulze, Nurit Assia Batzir, Jefferson Sinson, Hongzheng Dai, Wenmiao Zhu, Francia Bocanegra, Chin-To Fong, Jimmy Holder, Joanne Nguyen, Christian P. Schaaf, Yaping Yang, Weimin Bi, Christine Eng, Chad Shaw, James R. Lupski, Pengfei Liu
المصدر: Genome Medicine, Vol 14, Iss 1, Pp 1-24 (2022)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1756-994X
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7دورية أكاديمية
المصدر: Translational Psychiatry, Vol 12, Iss 1, Pp 1-11 (2022)
مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2158-3188
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8دورية أكاديمية
المؤلفون: Derek L. Reznik, Mingxiao V. Yang, Pedro Albelda de la Haza, Antrix Jain, Melanie Spanjaard, Susanne Theiss, Christian P. Schaaf, Anna Malovannaya, Theresa V. Strong, Surabi Veeraragavan, Rodney C. Samaco
المصدر: Disease Models & Mechanisms, Vol 16, Iss 2 (2023)
مصطلحات موضوعية: schaaf-yang syndrome, prader-willi syndrome, magel2, imprinting, rat model, Medicine, Pathology, RB1-214
وصف الملف: electronic resource
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9دورية أكاديمية
المؤلفون: Antje Kampmeier, Elsa Leitão, Ilaria Parenti, Jasmin Beygo, Christel Depienne, Nuria C Bramswig, Tzung-Chien Hsieh, Alexandra Afenjar, Stefanie Beck-Wödl, Ute Grasshoff, Tobias B Haack, Emilia K Bijlsma, Claudia Ruivenkamp, Eva Lausberg, Miriam Elbracht, Maria K Haanpää, Hannele Koillinen, Uwe Heinrich, Imma Rost, Rami Abou Jamra, Denny Popp, Margarete Koch-Hogrebe, Kevin Rostasy, Vanesa López-González, María José Sanchez-Soler, Catarina Macedo, Ariane Schmetz, Carmen Steinborn, Sabine Weidensee, Hellen Lesmann, Felix Marbach, Pilar Caro, Christian P. Schaaf, Peter Krawitz, Dagmar Wieczorek, Frank J Kaiser, Alma Kuechler
المصدر: Frontiers in Cell and Developmental Biology, Vol 10 (2023)
مصطلحات موضوعية: Chung-Jansen syndrome, CHUJANS, PHIP, DIDOD syndrome, ID, DD, Biology (General), QH301-705.5
وصف الملف: electronic resource
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10دورية أكاديمية
المؤلفون: Felix Marbach, Magdeldin Elgizouli, Megan Rech, Jasmin Beygo, Florian Erger, Clara Velmans, Constance T. R. M. Stumpel, Alexander P. A. Stegmann, Stefanie Beck-Wödl, Gabriele Gillessen-Kaesbach, Bernhard Horsthemke, Christian P. Schaaf, Alma Kuechler
المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)
مصطلحات موضوعية: Schaaf-Yang syndrome, Prader–Willi syndrome, MAGEL2, Adult phenotype, Medicine
وصف الملف: electronic resource