المؤلفون: Melanie T. Achleitner, Judith J. M. Jans, Laura Ebner, Johannes Spenger, Vassiliki Konstantopoulou, René G. Feichtinger, Karin Brugger, Doris Mayr, Ron A. Wevers, Christian Thiel, Saskia B. Wortmann, Johannes A. Mayr

المصدر: Metabolites, Vol 13, Iss 11, p 1141 (2023)

مصطلحات موضوعية: PPA1, pyrophosphate, galactosemia, galactose, hyperbilirubinemia, inborn metabolic disorder, Microbiology, QR1-502

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2218-1989/13/11/1141; https://doaj.org/toc/2218-1989

URL الوصول: https://doaj.org/article/dc3aef11382044e895ecfc7cc14db061

المؤلفون: René G. Feichtinger, Martin Preisel, Karin Brugger, Saskia B. Wortmann, Johannes A. Mayr

المصدر: Genes, Vol 14, Iss 6, p 1217 (2023)

مصطلحات موضوعية: NRXN3, neurodevelopmental disorder, autism, novel disease, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4425/14/6/1217; https://doaj.org/toc/2073-4425

URL الوصول: https://doaj.org/article/720a5981f4f9488cac6f657cdb124de1

المؤلفون: Ahmed El-Gazzar, Johannes A. Mayr, Barbara Voraberger, Karin Brugger, Stéphane Blouin, Katharina Tischlinger, Hans-Christoph Duba, Holger Prokisch, Nadja Fratzl-Zelman, Wolfgang Högler

المصدر: Bone Reports, Vol 15, Iss , Pp 101110- (2021)

مصطلحات موضوعية: Bone fragility, Type I collagen, Osteogenesis imperfecta, Cryptic splice site, Mutation, Whole exome sequencing, Diseases of the musculoskeletal system, RC925-935

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352187221003661; https://doaj.org/toc/2352-1872

URL الوصول: https://doaj.org/article/bdb0050b07464f549760c469b26f4bb0

المؤلفون: René G Feichtinger, Andreas Hüllen, Andreas Koller, Dieter Kotzot, Valerian Grote, Erdmann Rapp, Peter Hofbauer, Karin Brugger, Christian Thiel, Johannes A Mayr, Saskia B Wortmann

المصدر: EMBO Molecular Medicine, Vol 13, Iss 9, Pp n/a-n/a (2021)

مصطلحات موضوعية: congenital disorder of glycosylation, fucosylation, GDP‐L‐fucose synthase, salvage pathway, therapy, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1757-4676; https://doaj.org/toc/1757-4684

URL الوصول: https://doaj.org/article/699449adff8e4925a226be31d77dff32

المؤلفون: René G. Feichtinger, Martin Preisel, Katja Steinbrücker, Karin Brugger, Alexandra Radda, Saskia B. Wortmann, Johannes A. Mayr

المصدر: Genes, Vol 13, Iss 12, p 2191 (2022)

مصطلحات موضوعية: TSHZ3, neurodevelopmental disorder, renal disorder, novel disease loci, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4425/13/12/2191; https://doaj.org/toc/2073-4425

URL الوصول: https://doaj.org/article/9c373af65b3343a4a58c257605012b8b

المؤلفون: Florian B. Lagler, K. Kutsam, Melanie T. Achleitner, Wolfgang Sperl, Johannes A. Mayr, Daniel Weghuber, Johannes Koch, René G. Feichtinger, Saskia B. Wortmann, P. Hofbauer, Johannes Spenger, Karin Brugger

المصدر: Monatsschrift Kinderheilkunde. 169:828-836

مصطلحات موضوعية: 0301 basic medicine, Gynecology, 03 medical and health sciences, medicine.medical_specialty, 030104 developmental biology, 0302 clinical medicine, business.industry, Pediatrics, Perinatology and Child Health, Medicine, Surgery, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0288db97432780d3c3fe2ae4b5809037
https://doi.org/10.1007/s00112-021-01252-3

المؤلفون: Hans-Christoph Duba, Katharina Tischlinger, Barbara Voraberger, Wolfgang Högler, Holger Prokisch, Nadja Fratzl-Zelman, Ahmed El-Gazzar, Stéphane Blouin, Karin Brugger, Johannes A. Mayr

المصدر: Bone Reports
Bone Rep. 15:101110 (2021)
Bone Reports, Vol 15, Iss, Pp 101110-(2021)

مصطلحات موضوعية: Genetics, Mutation, Endocrinology, Diabetes and Metabolism, Genetic disorder, Whole exome sequencing, Case Report, Diseases of the musculoskeletal system, Cryptic splice site, Biology, Bone Fragility, Cryptic Splice Site, Osteogenesis Imperfecta, Type I Collagen, Whole Exome Sequencing, medicine.disease, medicine.disease_cause, Exon, RC925-935, Osteogenesis imperfecta, RNA splicing, medicine, Bone fragility, Orthopedics and Sports Medicine, splice, Type I collagen, Exome, Exome sequencing

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80ada73e08e5e633eee7e8a609dc03bc
http://europepmc.org/articles/PMC8339231

المؤلفون: Ira Benkel, Argirios Dinopoulos, Eugen Boltshauser, Cornelia Betzler, Christine Coubes, Johannes Koch, Jan Lotte, Saskia B. Wortmann, Karin Brugger, Ron A. Wevers, Jörgen Bierau, Daisy Rymen, Julie D. Kaplan, Marieke Wermuth, Marianne Rohrbach, Hans Hartmann, Daniel N. Willis, Johannes A. Mayr, Mohammad Hasan Mohammadi, Martijn Lindhout, Farah Ashrafzadeh, Maria Spanou, Diana Ballhausen

المساهمون: University of Zurich, Wortmann, Saskia B, MUMC+: DA KG Lab Centraal Lab (9), RS: FHML non-thematic output

المصدر: Genetics in Medicine, 22(10), 1589-1597. Nature Publishing Group
Genetics in Medicine, 22, 10, pp. 1589-1597
Genetics in Medicine, 22, 1589-1597

مصطلحات موضوعية: 0301 basic medicine, 2716 Genetics (clinical), early infantile epileptic encephalopathy-50, Uridine Triacetate, 610 Medicine & health, Status epilepticus, 030105 genetics & heredity, Bioinformatics, 03 medical and health sciences, chemistry.chemical_compound, Epilepsy, Uridine monophosphate, Medicine, Humans, BRAIN, Nucleotide salvage, Uridine, Genetics (clinical), Genetic testing, Retrospective Studies, Newborn screening, medicine.diagnostic_test, business.industry, MUTATIONS, Infant, Newborn, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], medicine.disease, anemia, ACIDURIA, developmental delay, 030104 developmental biology, chemistry, 10036 Medical Clinic, Dietary Supplements, medicine.symptom, business, Spasms, Infantile, Dyserythropoietic anemia, EIEE

وصف الملف: Expanding_the_clinical_and_genetic_spectrum_of_CAD_deficiency_an_epileptic_encephalopathy_treatable_with_uridine_supplementa.pdf - application/pdf; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8da38dbbefb38c486f491a6ba4870b84
https://pubmed.ncbi.nlm.nih.gov/32820246

المؤلفون: Sara O. Vargas, Rajeev Saggar, Nobuyuki Kagiyama, Mauricio Rojas, James E. Dahlman, Ying Tang, Yi Yin Tai, Rajan Saggar, Qiujun Yu, Bing Wang, John Gorcsan, Manling Zhang, Aaron B. Waxman, Rajesh Kumar, Masataka Sugahara, Ning Feng, Miranda K. Culley, Jyotsna Pilli, Daniel G. Anderson, Robert Langer, Thomas Bertero, Steven J. Mullett, Brian B. Graham, W. Dean Wallace, Vinny Negi, John Sembrat, David J. Ross, Johannes A. Mayr, Stacy G. Wendell, Sruti Shiva, Taijyu Satoh, Karin Brugger, Wei Sun, Omar F. Khan, Jingsi Zhao, Kathleen J. Haley, Stephen Y. Chan

المساهمون: Massachusetts Institute of Technology. Department of Chemical Engineering, Massachusetts Institute of Technology. Department of Biological Engineering, Harvard University--MIT Division of Health Sciences and Technology, Google Inc, Research at Google, Department of Chemical Engineering (DCE-MIT), Massachusetts Institute of Technology (MIT), Division of Cardiology [Pittsburgh, PA, États-Unis], Center for Metabolism and Mitochondrial Medicine [Pittsburgh, PA, États-Unis] (C3M), University of Pittsburgh School of Medicine, Pennsylvania Commonwealth System of Higher Education (PCSHE)-Pennsylvania Commonwealth System of Higher Education (PCSHE)-University of Pittsburgh School of Medicine, Pennsylvania Commonwealth System of Higher Education (PCSHE)-Pennsylvania Commonwealth System of Higher Education (PCSHE), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA), Centre National de la Recherche Scientifique (CNRS), ANR-18-CE14-0025,MatriPHate,Comprendre la dynamique de la niche vasculaire dans l'hypertension pulmonaire.(2018)

المصدر: PMC
Circulation, vol 139, iss 19
Circulation
Circulation, American Heart Association, 2019, 139 (19), pp.2238-2255. ⟨10.1161/CIRCULATIONAHA.118.035889⟩

مصطلحات موضوعية: Iron-Sulfur Proteins, Male, 030204 cardiovascular system & hematology, Mitochondrion, Cardiorespiratory Medicine and Haematology, Inbred C57BL, Cardiovascular, Mice, 0302 clinical medicine, 2.1 Biological and endogenous factors, RNA, Small Interfering, Aetiology, Child, Lung, Cells, Cultured, ComputingMilieux_MISCELLANEOUS, 0303 health sciences, Cultured, 3. Good health, mitochondria, medicine.anatomical_structure, Child, Preschool, Public Health and Health Services, Female, Cardiology and Cardiovascular Medicine, Oxidation-Reduction, Adult, medicine.medical_specialty, hypertension, Endothelium, Adolescent, endothelium, pulmonary, Hypertension, Pulmonary, Cells, Cell Respiration, Clinical Sciences, Glycine, Small Interfering, Mitochondrial Proteins, 03 medical and health sciences, Young Adult, [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, Physiology (medical), Internal medicine, Vascular, medicine, Genetics, Animals, Humans, Preschool, 030304 developmental biology, Nutrition, business.industry, Animal, Infant, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, Metabolism, medicine.disease, Pulmonary hypertension, Mice, Inbred C57BL, Family member, Disease Models, Animal, Endocrinology, Cardiovascular System & Hematology, Disease Models, Mutation, RNA, Endothelium, Vascular, business, Homeostasis

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c45f1b21e541fc7c64f6c8dcbfd69d8e
https://hdl.handle.net/1721.1/125622

المؤلفون: Josef Koller, Arno Hintersteininger, Karin Brugger-Jentsch

المصدر: JDDG: Journal der Deutschen Dermatologischen Gesellschaft. 13:1200-1203

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Skin flap, Dermatology, Pedicled Flap, Anatomy, Island Flaps, Surgery, Periosteal suture, Skin surface, medicine, Blood supply, Defect size, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5f5662af9b799c9492127acfb6fc3e3c
https://doi.org/10.1111/ddg.170_12806