المؤلفون: Holger Thiele, Elke Holinski-Feder, Michael Kloth, Markus M. Nöthen, Gabriela Möslein, Richard P. Lifton, Reinhard Büttner, Glen Kristiansen, Bixiao Zhao, Jonathan Marquez, Inga Hinrichsen, Janine Altmüller, Andreas Laner, Sukanya Horpaopan, Jutta Kirfel, Angela Brieger, Aylar Tafazzoli, Stefanie Holzapfel, Regina C. Betz, Nicolaus Friedrichs, Ronja Adam, Siegfried Uhlhaas, Sophia Peters, Isabel Spier, Giancarlo Marra, Dietlinde Stienen, Katrin Kayser, Stefan Aretz

المصدر: The American Journal of Human Genetics. 99(2):337-351

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Adolescent, Adenomatous polyposis coli, DNA Mutational Analysis, Genes, Recessive, Article, Germline, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, MUTYH, Genetics, Humans, Exome, Genetics(clinical), ddc:610, Alleles, Germ-Line Mutation, Genetics (clinical), Exome sequencing, Mismatch Repair Endonuclease PMS2, biology, POLD1, Middle Aged, Pedigree, DNA-Binding Proteins, 030104 developmental biology, Adenomatous Polyposis Coli, MSH3, Child, Preschool, 030220 oncology & carcinogenesis, MutS Homolog 3 Protein, biology.protein, Cancer research, Female, Colorectal Neoplasms

وصف الملف: application/octet-stream

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41921d5917d6a1c2d7d2e3842f11d595Test

المؤلفون: Antje Garten, Antje Körner, Jürgen Kratzsch, Franziska Wilhelm, Andreas Laner, Franziska Kässner, Gordian L. Schmid, Martin Wabitsch, Wieland Kiess

المصدر: Growth Hormone & IGF Research. 25:115-120

مصطلحات موضوعية: Endocrinology, Diabetes and Metabolism, Blotting, Western, Enzyme-Linked Immunosorbent Assay, mTORC1, Mitogen-activated protein kinase kinase, Real-Time Polymerase Chain Reaction, Wortmannin, Phosphatidylinositol 3-Kinases, chemistry.chemical_compound, Endocrinology, Adipocytes, Humans, PTEN, Tensin, RNA, Messenger, RNA, Small Interfering, Protein kinase A, Protein kinase B, Cells, Cultured, PI3K/AKT/mTOR pathway, Cell Proliferation, biology, Reverse Transcriptase Polymerase Chain Reaction, TOR Serine-Threonine Kinases, PTEN Phosphohydrolase, Insulin-Like Growth Factor Binding Protein 2, chemistry, biology.protein, Cancer research, Proto-Oncogene Proteins c-akt, hormones, hormone substitutes, and hormone antagonists, Signal Transduction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2fe4d5a09580bd0d1745a541299eafb8Test
https://doi.org/10.1016/j.ghir.2015.03.003Test

المؤلفون: A. Christopher Boyd, Bob J. Scholte, Erik M. Schwiebert, Torry A. Tucker, Andreas Laner, Daniel Klink, Dirk Schindelhauer, Zsuzsanna Bebok

المصدر: Journal of Cystic Fibrosis. 3:203-212

مصطلحات موضوعية: Pulmonary and Respiratory Medicine, Cystic Fibrosis, Genetic enhancement, Genetic Vectors, Cystic Fibrosis Transmembrane Conductance Regulator, Cell Communication, Respiratory Mucosa, Gene delivery, Vectors in gene therapy, Transfection, Bioinformatics, medicine.disease_cause, Sendai virus, Cystic fibrosis, Adenoviridae, Animals, Humans, Medicine, Pediatrics, Perinatology, and Child Health, Lung, Adeno-associated virus, biology, business.industry, Lentivirus, Genetic Therapy, Dependovirus, medicine.disease, biology.organism_classification, Virology, Cystic fibrosis transmembrane conductance regulator, Gene therapy/ethics/methods, Models, Animal, Pediatrics, Perinatology and Child Health, biology.protein, business, Gene transfer techniques

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::852db8874951e4b303195bdd226ecd97Test
https://doi.org/10.1016/j.jcf.2004.05.042Test