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

URL الوصول: https://doaj.org/article/c84ca93f6ba94f7fa60fa360f03b6d83

المؤلفون: Mirjana Gusic, Elena Procopio, Vicente A. Yépez, Antonia Ribes, Riccardo Berutti, Daniele Ghezzi, Yulia S. Itkis, Rui Ban, Michaela F. Müller, Akira Ohtake, Felix Distelmaier, Tim M. Strom, Thomas Meitinger, Skadi Beblo, Gerard Muñoz-Pujol, Holger Prokisch, Tatiana D. Krylova, Christine Makowski, Yoshihito Kishita, Joél Smet, Arnaud Vanlander, Matias Wagner, Julien Gagneur, Robert Kopajtich, Holger Blessing, Charlotte L. Alston, Thomas Schwarzmayr, Signe Mosegaard, Susan J. Hayflick, Dominic Lenz, Elżbieta Ciara, Manting Xu, Maja Hempel, Kei Murayama, Costanza Lamperti, Rudy Van Coster, Yasushi Okazaki, Johannes Häberle, Caterina Terrile, Sarah L. Stenton, Fang Fang, Peter Freisinger, Robert W. Taylor, Thomas Klopstock, Saskia B. Wortmann, Johannes A. Mayr, Christian Staufner, Agnieszka Nadel, Agnès Rötig, Nicholas H. Smith, Frederic Tort, Christian Mertes, Dorota Piekutowska-Abramczuk

مصطلحات موضوعية: Mitochondrial disease, Computational biology, Biology, medicine.disease, Genome, Transcriptome, symbols.namesake, Gene expression, Mendelian inheritance, symbols, medicine, Haploinsufficiency, Gene, Exome sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::90c3e4fbedb693debf43ffb8dda37bfa
https://doi.org/10.1101/2021.04.01.21254633

المؤلفون: Paolo Moretti, Shan Chen, Gladys Zapata, Michaela F. Müller, Carlos A. Bacino, William J. Craigen, Julien Gagneur, Hsiao-Tuan Chao, Shamika Ketkar, Hongzheng Dai, Vicente A. Yépez, Neil A. Hanchard, David R. Murdock, Lindsay C. Burrage, Brendan Lee, Jill A. Rosenfeld, Pengfei Liu, Mahim Jain

المصدر: J Clin Invest

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Adolescent, Microarray, Bioinformatics, DNA sequencing, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Molecular genetics, Intellectual disability, medicine, Humans, RNA-Seq, Child, Exome, Skin, business.industry, Genetic Diseases, Inborn, General Medicine, Fibroblasts, medicine.disease, 030104 developmental biology, Child, Preschool, 030220 oncology & carcinogenesis, Cohort, Mendelian inheritance, symbols, Female, Personalized medicine, Clinical Medicine, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9fb813495685262f82f1c4f89ebd07e
https://doi.org/10.1172/jci141500

المؤلفون: Holger Prokisch, Michaela F. Müller, Vicente A. Yépez, Laure Fresard, Patricia F. Goldberg, Mirjana Gusic, Ines F. Scheller, Christian Mertes, Julien Gagneur, Daniela Klaproth-Andrade, Leonhard Wachutka

المصدر: Nat. Protoc. 16, 1276–1296 (2021)

مصطلحات موضوعية: Sequence analysis, Gene Expression, Computational biology, Biology, General Biochemistry, Genetics and Molecular Biology, DNA sequencing, Workflow, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Gene expression, Diagnosis, Humans, Disease, Gene, Diagnostic Techniques and Procedures, 030304 developmental biology, 0303 health sciences, Base Sequence, Sequence Analysis, RNA, Gene Expression Profiling, RNA, High-Throughput Nucleotide Sequencing, Human genetics, chemistry, RNA splicing, 030217 neurology & neurosurgery, DNA, Software

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b2dd1dd015329f3f298234a31ce66fd
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=61091

المؤلفون: Caren Tanger, Ulrich Kulozik, Michaela F. Müller, David J. Andlinger

المصدر: Food Hydrocolloids. 123:106903

مصطلحات موضوعية: chemistry.chemical_classification, 010304 chemical physics, General Chemical Engineering, Pea protein, Ionic bonding, Salt (chemistry), 04 agricultural and veterinary sciences, General Chemistry, 040401 food science, 01 natural sciences, 0404 agricultural biotechnology, Chemical engineering, chemistry, Covalent bond, Ionic strength, 0103 physical sciences, Denaturation (biochemistry), Solubility, Elastic modulus, Food Science

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5afe01a66e16d8fb71e2c26493e8e034
https://doi.org/10.1016/j.foodhyd.2021.106903