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1
المؤلفون: Elke Holinski-Feder, Janine Graf, Brigitte Schönfeld, Andreas Laner, Udo Koehler, Ariane Hallermayr, Anna Benet-Pagès
المصدر: Clinical Case Reports
مصطلحات موضوعية: 0301 basic medicine, NR_023343.1:n.116A>C, Case Report, Nucleotide substitution, Case Reports, Compound heterozygosity, 03 medical and health sciences, 0302 clinical medicine, Critical regions, Medicine, RNU4ATAC gene, Nucleotide, Gene, Roifman Syndrome, Roifman syndrome, Genetics, chemistry.chemical_classification, NR_023343.1:n.13C>T, business.industry, RNU4ATAC, clinical exome sequencing, General Medicine, minor intron splicing, 030104 developmental biology, chemistry, snRNA U4atac, business, 030217 neurology & neurosurgery, Coding (social sciences)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e2bc486981ba76c51499c643ba1d996Test
https://doi.org/10.1002/ccr3.1830Test -
2
المؤلفون: Oliver Peschel, Elke Holinski-Feder, Stephanie Kleinle, Ulrike Schoen, Andreas Laner, Anna Benet-Pagès, Isabel Diebold, Florentine Scharf, Anna Holzer
مصطلحات موضوعية: Text mining, Versus gene, business.industry, Molecular autopsy, Computational biology, Biology, business, behavioral disciplines and activities, Phenotype, Exome sequencing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::006d2422c1aecfd17332e1bb963e1aecTest
https://doi.org/10.21203/rs.3.rs-122014/v1Test -
3
المؤلفون: Angela Abicht, Andreas Laner, Isabel Diebold, Ulrike Schön, Elke Holinski-Feder
المصدر: Cardiovasc Diagn Ther
مصطلحات موضوعية: medicine.medical_specialty, education.field_of_study, DSC2, Heart disease, business.industry, Genetic counseling, Population, Cardiomyopathy, Disease, medicine.disease, Bioinformatics, Sudden cardiac death, ddc, medicine, Medical genetics, Cardiology and Cardiovascular Medicine, education, business, Original Article on Current Management Aspects in Adult Congenital Heart Disease (ACHD): Part III
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30c51e0873aebebe7f5ab5c97cef0feaTest
https://mediatum.ub.tum.de/doc/1659109/document.pdfTest -
4
المؤلفون: Andreas Laner, Frank Kowalzik, Adrian Viehweger, Franziska Wilhelm, Susanne Schuster, Gordian L. Schmid, Norman Händel, Wieland Kiess, Fred-P. Zepp, Wolfgang Hirsch, Jürgen Kratzsch, Franziska Kässner, Antje Körner, Sven Starke, Holm H. Uhlig, Antje Garten
المصدر: Pediatric Research. 75:527-534
مصطلحات موضوعية: Lipomatosis, In Vitro Techniques, Drug therapy, Hamartoma, Paediatrics, PTEN, PHTS, PI3K, AKT, mTOR, medicine, Humans, Tensin, PTEN, ddc:610, Protein kinase B, PI3K/AKT/mTOR pathway, Sirolimus, biology, business.industry, Infant, Newborn, PTEN Phosphohydrolase, Infant, Lipoma, medicine.disease, Child, Preschool, Pediatrics, Perinatology and Child Health, Cancer research, biology.protein, Thymus hyperplasia, Hamartoma Syndrome, Multiple, business, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b67a8def215d5e18bf194b3f5c96310fTest
https://doi.org/10.1038/pr.2013.246Test -
5
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