Zobrazeno 1 - 10 of 209 pro vyhledávání: '"Eirich K"'
1
Akademický článek
Response to Replication Stress and Maintenance of Genome Stability by WRN, the Werner Syndrome Protein.
Autor: Orren, David K.1,2 (AUTHOR) amach0@uky.edu, Machwe, Amrita1,2 (AUTHOR)
Publikováno v: International Journal of Molecular Sciences. Aug2024, Vol. 25 Issue 15, p8300. 27p.
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2
Akademický článek
Genomic Characterization of Preclinical Prostate Cancer Cell Line Models.
Autor: Beatson, Erica L.1 (AUTHOR), Risdon, Emily N.1 (AUTHOR), Napoli, Giulia C.1 (AUTHOR) dkprice@nih.gov, Price, Douglas K.1 (AUTHOR), Chau, Cindy H.1 (AUTHOR), Figg, William D.1 (AUTHOR) figgw@mail.nih.gov
Publikováno v: International Journal of Molecular Sciences. Jun2024, Vol. 25 Issue 11, p6111. 19p.
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3
Akademický článek
Recurrent tendosynovitis as a rare manifestation of a lipid disorder.
Autor: Wadsack D; Department of Medicine A, Klinikum Ludwigshafen, Ludwigshafen, Germany., Sattler H; Department of Medicine A, Klinikum Ludwigshafen, Ludwigshafen, Germany., Kleber ME; Department of Internal Medicine V (Nephrology, Rheumatology, Hypertensiology, Endocrinolgy, Diabetology), Mannheim Medical Faculty, University of Heidelberg, Mannheim, Germany., Eirich K; SYNLAB Zentrum für Humangenetik Mannheim, Mannheim, Germany., Scharnagl H; Clinical Institute of Medical and Chemical Laboratory Diagnostics, Medical University of Graz, Graz, Austria., Fauler G; Clinical Institute of Medical and Chemical Laboratory Diagnostics, Medical University of Graz, Graz, Austria., März W; Department of Internal Medicine V (Nephrology, Rheumatology, Hypertensiology, Endocrinolgy, Diabetology), Mannheim Medical Faculty, University of Heidelberg, Mannheim, Germany; Clinical Institute of Medical and Chemical Laboratory Diagnostics, Medical University of Graz, Graz, Austria; Synlab Academy, Synlab Holding Deutschland GmbH, Mannheim, Germany., Grammer TB; Department of Internal Medicine V (Nephrology, Rheumatology, Hypertensiology, Endocrinolgy, Diabetology), Mannheim Medical Faculty, University of Heidelberg, Mannheim, Germany; Mannheim Institute of Public Health, Social and Preventive Medicine, Mannheim Medical Faculty, University of Heidelberg, Mannheim, Germany. Electronic address: tanja.grammer@medma.uni-heidelberg.de.
Publikováno v: Journal of clinical lipidology [J Clin Lipidol] 2019 Jan - Feb; Vol. 13 (1), pp. 54-61. Date of Electronic Publication: 2018 Oct 24.
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4
Akademický článek
Strong Evidence for Molecular Genetic Risk Assessment in Patients with Aneurysms of the Ascending Aorta.
Autor: Eirich, K., Skladny, H., Kläs, R., Cremer, F., Binner, P., Scheffold, T.
Publikováno v: Thoracic & Cardiovascular Surgeon, Supplement; 2017 Supplement2, Vol. 65, pS1-S110, 110p
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5
Akademický článek
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6
Akademický článek
WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects.
Autor: Yokote K; Department of Clinical Cell Biology and Medicine, Graduate School of Medicine, Chiba University, Chiba, Japan., Chanprasert S; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington., Lee L; Department of Pathology, University of Washington, Seattle, Washington., Eirich K; Department of Human Genetics, University of Wuerzburg, Wuerzburg, Germany., Takemoto M; Department of Clinical Cell Biology and Medicine, Graduate School of Medicine, Chiba University, Chiba, Japan., Watanabe A; Department of Clinical Cell Biology and Medicine, Graduate School of Medicine, Chiba University, Chiba, Japan., Koizumi N; Department of Clinical Cell Biology and Medicine, Graduate School of Medicine, Chiba University, Chiba, Japan., Lessel D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Mori T; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington., Hisama FM; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington., Ladd PD; Department of Pathology, University of Washington, Seattle, Washington., Angle B; Advocate Lutheran General Hospital and Advocate Children's Hospital, Park Ridge, Illinois., Baris H; The Genetics Institute, Rambam Health Care Campus and Rappaport School of Medicine, Technion - Israel Institute of Technology, Haifa, Israel., Cefle K; Department of Internal Medicine, Division of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Turkey., Palanduz S; Department of Internal Medicine, Division of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Turkey., Ozturk S; Department of Internal Medicine, Division of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Turkey., Chateau A; Department of Dermatology, Greys Hospital, Pietermaritzburg, South Africa., Deguchi K; Department of Neurology, Okayama City Hospital, Okayama, Japan., Easwar TK; Milestone Hospital, Rajkot, India., Federico A; Department of Medicine, Surgery and Neurosciences, Unit Clinical Neurology and Neurometabolic Diseases, Medical School, University of Siena, Siena, Italy., Fox A; Department of Dermatology, University of North Carolina, Chapel Hill, North Carolina., Grebe TA; Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, Arizona., Hay B; Division of Genetics, UMass Memorial Medical Center, Worcester, Massachusetts., Nampoothiri S; Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Center, Kochi, Kerala, India., Seiter K; Department of Medicine, New York Medical College, Hawthorne, New York., Streeten E; Division of Genetics, University of Maryland School of Medicine, Baltimore, Maryland., Piña-Aguilar RE; Centro Médico Nacional 20 de Noviembre, ISSSTE, Mexico City, Mexico., Poke G; Genetic Health Service NZ, Wellington, New Zealand., Poot M; University Medical Center, Utrecht, Netherlands., Posmyk R; Department of Clinical Genetics, Podlaskie Medical Center, Bialystok, Poland.; Department of Perinatology, Medical University of Bialystok, Bialystok, Poland., Martin GM; Department of Pathology, University of Washington, Seattle, Washington., Kubisch C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Schindler D; Department of Human Genetics, University of Wuerzburg, Wuerzburg, Germany., Oshima J; Department of Clinical Cell Biology and Medicine, Graduate School of Medicine, Chiba University, Chiba, Japan.; Department of Pathology, University of Washington, Seattle, Washington.
Publikováno v: Human mutation [Hum Mutat] 2017 Jan; Vol. 38 (1), pp. 7-15. Date of Electronic Publication: 2016 Oct 07.
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9
Akademický článek
Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness.
Autor: Hu H; Max Planck Institute for Molecular Genetics Berlin, Germany., Matter ML; The University of Hawaii Cancer Center Honolulu, Hawaii., Issa-Jahns L; Institute of Cell Biology and Neurobiology, Charité - Universitätsmedizin Berlin Berlin, Germany ; Department of Pediatric Neurology, Charité - Universitätsmedizin Berlin Berlin, Germany., Jijiwa M; The University of Hawaii Cancer Center Honolulu, Hawaii., Kraemer N; Institute of Cell Biology and Neurobiology, Charité - Universitätsmedizin Berlin Berlin, Germany ; Department of Pediatric Neurology, Charité - Universitätsmedizin Berlin Berlin, Germany., Musante L; Max Planck Institute for Molecular Genetics Berlin, Germany., de la Vega M; The University of Hawaii Cancer Center Honolulu, Hawaii., Ninnemann O; Institute of Cell Biology and Neurobiology, Charité - Universitätsmedizin Berlin Berlin, Germany., Schindler D; Department of Human Genetics, University of Würzburg Würzburg, Germany., Damatova N; Department of Human Genetics, University of Würzburg Würzburg, Germany., Eirich K; Department of Human Genetics, University of Würzburg Würzburg, Germany., Sifringer M; Department of Anesthesiology and Intensive Care Medicine, Charité - Universitätsmedizin Berlin Berlin, Germany., Schrötter S; Institute of Biochemistry and Cluster of Excellence Neurocure, Charité - Universitätsmedizin Berlin Berlin, Germany., Eickholt BJ; Institute of Biochemistry and Cluster of Excellence Neurocure, Charité - Universitätsmedizin Berlin Berlin, Germany., van den Heuvel L; Nijmegen Center for Mitochondrial Disorders, Radboud University Medical Center Nijmegen, The Netherlands., Casamina C; The University of Hawaii Cancer Center Honolulu, Hawaii., Stoltenburg-Didinger G; Institute of Cell Biology and Neurobiology, Charité - Universitätsmedizin Berlin Berlin, Germany., Ropers HH; Max Planck Institute for Molecular Genetics Berlin, Germany., Wienker TF; Max Planck Institute for Molecular Genetics Berlin, Germany., Hübner C; Department of Pediatric Neurology, Charité - Universitätsmedizin Berlin Berlin, Germany., Kaindl AM; Institute of Cell Biology and Neurobiology, Charité - Universitätsmedizin Berlin Berlin, Germany ; Department of Pediatric Neurology, Charité - Universitätsmedizin Berlin Berlin, Germany.
Publikováno v: Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2014 Dec; Vol. 1 (12), pp. 1024-35. Date of Electronic Publication: 2014 Dec 03.
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10
Akademický článek
Combined immunodeficiency develops with age in Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ICF2).
Autor: von Bernuth H; Pediatric Pneumology and Immunology, Charité - Universitätsmedizin Berlin, Augustenburger Platz 1, 13353, Berlin, Germany. horst.von-bernuth@charite.de.; Labor Berlin Charité Vivantes GmbH, Department of Immunology, Berlin, Germany. horst.von-bernuth@charite.de., Ravindran E; Institute of Cell Biology and Neurobiology, Charité - Universitätsmedizin Berlin, Augustenburger Platz 1, 13353, Berlin, Germany. ethiraj.ravindran@charite.de.; Pediatric Neurology, Charité - Universitätsmedizin Berlin, Augustenburger Platz 1, 13353, Berlin, Germany. ethiraj.ravindran@charite.de., Du H; Berlin Institute for Medical Systems Biology, Max-Delbrueck-Center for Molecular Medicine, Robert-Rössle-Str. 10, 13092, Berlin, Germany. hang.du@mdc-berlin.de., Fröhler S; Berlin Institute for Medical Systems Biology, Max-Delbrueck-Center for Molecular Medicine, Robert-Rössle-Str. 10, 13092, Berlin, Germany. sebastian.froehler@mdc-berlin.de., Strehl K; Pediatric Pneumology and Immunology, Charité - Universitätsmedizin Berlin, Augustenburger Platz 1, 13353, Berlin, Germany. karoline.strehl@charite.de., Krämer N; Institute of Cell Biology and Neurobiology, Charité - Universitätsmedizin Berlin, Augustenburger Platz 1, 13353, Berlin, Germany. nadine.kraemer@charite.de.; Pediatric Neurology, Charité - Universitätsmedizin Berlin, Augustenburger Platz 1, 13353, Berlin, Germany. nadine.kraemer@charite.de., Issa-Jahns L; Institute of Cell Biology and Neurobiology, Charité - Universitätsmedizin Berlin, Augustenburger Platz 1, 13353, Berlin, Germany. ina.jahns@charite.de.; Pediatric Neurology, Charité - Universitätsmedizin Berlin, Augustenburger Platz 1, 13353, Berlin, Germany. ina.jahns@charite.de., Amulic B; Max Planck Institute for Infection Biology, Berlin, Germany. amulic@mpiib-berlin.mpg.de., Ninnemann O; Institute of Cell Biology and Neurobiology, Charité - Universitätsmedizin Berlin, Augustenburger Platz 1, 13353, Berlin, Germany. olaf.ninnemann@charite.de., Xiao MS; Berlin Institute for Medical Systems Biology, Max-Delbrueck-Center for Molecular Medicine, Robert-Rössle-Str. 10, 13092, Berlin, Germany. mei-sheng.xiao@mdc-berlin.de., Eirich K; Institute for Human Genetics, Biozentrum, Universität Würzburg, Würzburg, Germany. katharina.eirich@uni-wuerzburg.de., Kölsch U; Labor Berlin Charité Vivantes GmbH, Department of Immunology, Berlin, Germany. uwe.koelsch@charite.de., Hauptmann K; Institute for Pathology, Charité - Universitätsmedizin Berlin, Berlin, Germany. kathrin.hauptmann@charite.de., John R; Pediatric Neurology, Charité - Universitätsmedizin Berlin, Augustenburger Platz 1, 13353, Berlin, Germany. rainer.john@charite.de., Schindler D; Institute for Human Genetics, Biozentrum, Universität Würzburg, Würzburg, Germany. schindler@biozentrum.uni-wuerzburg.de., Wahn V; Pediatric Pneumology and Immunology, Charité - Universitätsmedizin Berlin, Augustenburger Platz 1, 13353, Berlin, Germany. volker.wahn@charite.de., Chen W; Berlin Institute for Medical Systems Biology, Max-Delbrueck-Center for Molecular Medicine, Robert-Rössle-Str. 10, 13092, Berlin, Germany. wei.chen@mdc-berlin.de., Kaindl AM; Institute of Cell Biology and Neurobiology, Charité - Universitätsmedizin Berlin, Augustenburger Platz 1, 13353, Berlin, Germany. angela.kaindl@charite.de.; Pediatric Neurology, Charité - Universitätsmedizin Berlin, Augustenburger Platz 1, 13353, Berlin, Germany. angela.kaindl@charite.de.
Publikováno v: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2014 Oct 21; Vol. 9, pp. 116. Date of Electronic Publication: 2014 Oct 21.
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