Zobrazeno 1 - 10 of 392 pro vyhledávání: '"Menden B"'
1
Akademický článek
Genomes in clinical care.
Autor: Riess O; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany. Olaf.riess@med.uni-tuebingen.de.; NGS Competence Center Tübingen, University of Tübingen, Tübingen, Germany. Olaf.riess@med.uni-tuebingen.de.; Center for Rare Diseases Tübingen, University of Tübingen, Tübingen, Germany. Olaf.riess@med.uni-tuebingen.de., Sturm M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Menden B; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Liebmann A; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Demidov G; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Witt D; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Casadei N; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; NGS Competence Center Tübingen, University of Tübingen, Tübingen, Germany., Admard J; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Schütz L; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Ossowski S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; NGS Competence Center Tübingen, University of Tübingen, Tübingen, Germany.; Institute for Bioinformatics and Medical Informatics (IBMI), University of Tübingen, Tübingen, Germany., Taylor S; Illumina, Inc, San Diego, CA, USA., Schaffer S; Illumina, Inc, San Diego, CA, USA., Schroeder C; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Center for Rare Diseases Tübingen, University of Tübingen, Tübingen, Germany., Dufke A; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Center for Rare Diseases Tübingen, University of Tübingen, Tübingen, Germany., Haack T; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Center for Rare Diseases Tübingen, University of Tübingen, Tübingen, Germany.
Publikováno v: NPJ genomic medicine [NPJ Genom Med] 2024 Mar 14; Vol. 9 (1), pp. 20. Date of Electronic Publication: 2024 Mar 14.
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2
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Autor: Park J; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Tucci A; William Harvey Research Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom., Cipriani V; William Harvey Research Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom; UCL Institute of Ophthalmology, University College London, London, United Kingdom; Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom; UCL Genetics Institute, University College London, London, United Kingdom., Demidov G; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Rocca C; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Senderek J; Department of Neurology, Friedrich-Baur-Institute, University Hospital, Ludwig-Maximilian University Munich, Munich, Germany., Butryn M; German Center for Neurodegenerative Diseases (DZNE), Magdeburg, Germany., Velic A; Proteome Center Tübingen, University of Tübingen, Tübingen, Germany., Lam T; Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom; St George's Hospital NHS Trust, London, United Kingdom., Galanaki E; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Cali E; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Vestito L; William Harvey Research Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom., Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Deininger N; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Rautenberg M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Admard J; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Hahn GA; CeGaT GmbH, Center for Genomics and Transcriptomics, Tübingen, Germany., Bartels C; Department of Neurology, Otto-von-Guericke University, Magdeburg, Germany., van Os NJH; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Center of Expertise for Parkinson and Movement Disorders, Radboud University Medical Center, Nijmegen, The Netherlands., Horvath R; Department of Clinical Neurosciences, John Van Geest Centre for Brain Repair, University of Cambridge, Cambridge, United Kingdom., Chinnery PF; Department of Clinical Neurosciences, John Van Geest Centre for Brain Repair, University of Cambridge, Cambridge, United Kingdom; MRC Mitochondrial Biology Unit & Department of Clinical Neurosciences, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom., Tiet MY; Department of Clinical Neurosciences, John Van Geest Centre for Brain Repair, University of Cambridge, Cambridge, United Kingdom., Hewamadduma C; Sheffield Institute for Translational Neurosciences (SITraN), The University of Sheffield, Sheffield, United Kingdom; Royal Hallamshire Hospital, Sheffield Teaching Hospitals Foundation Trust, Sheffield, United Kingdom., Hadjivassiliou M; Royal Hallamshire Hospital, Sheffield Teaching Hospitals Foundation Trust, Sheffield, United Kingdom; Academic Department of Neurosciences, Sheffield Teaching Hospitals NHS Trust and The University of Sheffield, Sheffield, United Kingdom., Downes SM; Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom; Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom., Németh AH; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Trust, Oxford, United Kingdom., Tofaris GK; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom., Wood NW; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Hayer SN; Department of Neurodegenerative Diseases, Center for Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany., Bender F; Department of Neurodegenerative Diseases, Center for Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany., Menden B; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Cordts I; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany; Department of Neurology, Klinikum rechts der Isar, Technical University Munich (TUM), Munich, Germany., Klein K; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Nguyen HP; Department of Human Genetics, Medical Faculty, Ruhr University Bochum, Bochum, Germany., Krauss JK; Department of Neurosurgery, Hannover Medical School, Hannover, Germany., Blahak C; Department of Neurology, Ortenau Klinikum Lahr-Ettenheim, Lahr, Germany; Department of Neurology, Universitätsmedizin Mannheim, Medical Faculty Mannheim, University of Heidelberg, Mannheim, Germany., Strom TM; Institute of Human Genetics, Technische Universität München, Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany., Sturm M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., van de Warrenburg B; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Center of Expertise for Parkinson and Movement Disorders, Radboud University Medical Center, Nijmegen, The Netherlands., Lerche H; Department of Neurology and Epileptology, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany., Maček B; Proteome Center Tübingen, University of Tübingen, Tübingen, Germany., Synofzik M; Department of Neurodegenerative Diseases, Center for Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany., Ossowski S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Timmann D; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS), Essen University Hospital, University of Duisburg-Essen, Essen, Germany., Wolf ME; Department of Neurology, Universitätsmedizin Mannheim, Medical Faculty Mannheim, University of Heidelberg, Mannheim, Germany; Department of Neurology, Klinikum Stuttgart, Stuttgart, Germany., Smedley D; William Harvey Research Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom., Riess O; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany; Center for Rare Diseases, University of Tübingen, Tübingen, Germany., Schöls L; Department of Neurodegenerative Diseases, Center for Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany; Center for Rare Diseases, University of Tübingen, Tübingen, Germany., Houlden H; William Harvey Research Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany; Center for Rare Diseases, University of Tübingen, Tübingen, Germany., Hengel H; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany; Department of Neurodegenerative Diseases, Center for Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Oct; Vol. 25 (10), pp. 100961. Date of Electronic Publication: 2023 Aug 31.
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5
Akademický článek
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Autor: Park J; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Tucci A; William Harvey Research Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom., Cipriani V; William Harvey Research Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom; UCL Institute of Ophthalmology, University College London, London, United Kingdom; Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom; UCL Genetics Institute, University College London, London, United Kingdom., Demidov G; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Rocca C; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Senderek J; Department of Neurology, Friedrich-Baur-Institute, University Hospital, Ludwig-Maximilian University Munich, Munich, Germany., Butryn M; German Center for Neurodegenerative Diseases (DZNE), Magdeburg, Germany., Velic A; Proteome Center Tübingen, University of Tübingen, Tübingen, Germany., Lam T; Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom; St George's Hospital NHS Trust, London, United Kingdom., Galanaki E; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Cali E; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Vestito L; William Harvey Research Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom., Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Deininger N; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Rautenberg M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Admard J; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Hahn GA; CeGaT GmbH, Center for Genomics and Transcriptomics, Tübingen, Germany., Bartels C; Department of Neurology, Otto-von-Guericke University, Magdeburg, Germany., van Os NJH; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Center of Expertise for Parkinson and Movement Disorders, Radboud University Medical Center, Nijmegen, the Netherlands., Horvath R; Department of Clinical Neurosciences, John Van Geest Centre for Brain Repair, University of Cambridge, Cambridge, United Kingdom., Chinnery PF; Department of Clinical Neurosciences, John Van Geest Centre for Brain Repair, University of Cambridge, Cambridge, United Kingdom; MRC Mitochondrial Biology Unit & Department of Clinical Neurosciences, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom., Tiet MY; Department of Clinical Neurosciences, John Van Geest Centre for Brain Repair, University of Cambridge, Cambridge, United Kingdom., Hewamadduma C; Sheffield Institute for Translational Neurosciences (SITraN), The University of Sheffield, Sheffield, United Kingdom; Royal Hallamshire Hospital, Sheffield Teaching Hospitals Foundation Trust, Sheffield, United Kingdom., Hadjivassiliou M; Royal Hallamshire Hospital, Sheffield Teaching Hospitals Foundation Trust, Sheffield, United Kingdom; Academic Department of Neurosciences, Sheffield Teaching Hospitals NHS Trust and The University of Sheffield, Sheffield, United Kingdom., Tofaris GK; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom., Wood NW; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Hayer SN; Department of Neurodegenerative Diseases, Center for Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany., Bender F; Department of Neurodegenerative Diseases, Center for Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany., Menden B; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Cordts I; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany; Department of Neurology, Klinikum rechts der Isar, Technical University Munich (TUM), Munich, Germany., Klein K; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Nguyen HP; Department of Human Genetics, Medical Faculty, Ruhr University Bochum, Bochum, Germany., Krauss JK; Department of Neurosurgery, Hannover Medical School, Hannover, Germany., Blahak C; Department of Neurology, Ortenau Klinikum Lahr-Ettenheim, Lahr, Germany; Department of Neurology, Universitätsmedizin Mannheim, Medical Faculty Mannheim, University of Heidelberg, Mannheim, Germany., Strom TM; Institute of Human Genetics, Technische Universität München, Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany., Sturm M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., van de Warrenburg B; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Center of Expertise for Parkinson and Movement Disorders, Radboud University Medical Center, Nijmegen, the Netherlands., Lerche H; Department of Neurology and Epileptology, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany., Maček B; Proteome Center Tübingen, University of Tübingen, Tübingen, Germany., Synofzik M; Department of Neurodegenerative Diseases, Center for Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany., Ossowski S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Timmann D; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS), Essen University Hospital, University of Duisburg-Essen, Essen, Germany., Wolf ME; Department of Neurology, Universitätsmedizin Mannheim, Medical Faculty Mannheim, University of Heidelberg, Mannheim, Germany; Department of Neurology, Klinikum Stuttgart, Stuttgart, Germany., Smedley D; William Harvey Research Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom., Riess O; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany; Center for Rare Diseases, University of Tübingen, Tübingen, Germany., Schöls L; Department of Neurodegenerative Diseases, Center for Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany; Center for Rare Diseases, University of Tübingen, Tübingen, Germany. Electronic address: ludger.schoels@uni-tuebingen.de., Houlden H; William Harvey Research Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom. Electronic address: h.houlden@ucl.ac.uk., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany; Center for Rare Diseases, University of Tübingen, Tübingen, Germany., Hengel H; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany; Department of Neurodegenerative Diseases, Center for Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Oct; Vol. 24 (10), pp. 2079-2090. Date of Electronic Publication: 2022 Aug 20.
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6
Akademický článek
Variant in the PLCG2 Gene May Cause a Phenotypic Overlap of APLAID/PLAID: Case Series and Literature Review.
Autor: Welzel T; Division of Pediatric Rheumatology and Autoinflammation Reference Center Tuebingen (arcT), Department of Pediatrics, University Hospital Tuebingen, 72076 Tuebingen, Germany.; Pediatric Pharmacology and Pharmacometrics, University Children's Hospital Basel (UKBB), University of Basel, 4031 Basel, Switzerland., Oefelein L; Division of Pediatric Rheumatology and Autoinflammation Reference Center Tuebingen (arcT), Department of Pediatrics, University Hospital Tuebingen, 72076 Tuebingen, Germany., Holzer U; Pediatric Hematology and Oncology, University Children's Hospital Tuebingen, 72076 Tuebingen, Germany., Müller A; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, 72076 Tuebingen, Germany., Menden B; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, 72076 Tuebingen, Germany., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, 72076 Tuebingen, Germany.; Center for Rare Diseases, University of Tuebingen, 72076 Tuebingen, Germany., Groβ M; Institute of Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany., Kuemmerle-Deschner JB; Division of Pediatric Rheumatology and Autoinflammation Reference Center Tuebingen (arcT), Department of Pediatrics, University Hospital Tuebingen, 72076 Tuebingen, Germany.
Publikováno v: Journal of clinical medicine [J Clin Med] 2022 Jul 27; Vol. 11 (15). Date of Electronic Publication: 2022 Jul 27.
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7
Akademický článek
A single center experience of prenatal parent-fetus trio exome sequencing for pregnancies with congenital anomalies.
Autor: Dufke A; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Centre for Rare Diseases, University of Tübingen, Tübingen, Germany., Hoopmann M; Department for Women's Health, University Hospital of Tübingen, Tübingen, Germany., Waldmüller S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Prodan NC; Department for Women's Health, University Hospital of Tübingen, Tübingen, Germany., Beck-Wödl S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Grasshoff U; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Heinrich T; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Riess A; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Kehrer M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Falb RJ; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Liebmann A; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Roggia C; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Stampfer M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Schadeck M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Müller AJ; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Grimmel M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Stöbe P; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Gauck D; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Buchert-Lo R; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Baumann S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Schäferhoff K; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Bertrand M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Menden B; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Sturm M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Schütz L; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Riess O; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Centre for Rare Diseases, University of Tübingen, Tübingen, Germany., Ossowski S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Centre for Rare Diseases, University of Tübingen, Tübingen, Germany., Kagan KO; Department for Women's Health, University Hospital of Tübingen, Tübingen, Germany.
Publikováno v: Prenatal diagnosis [Prenat Diagn] 2022 Jun; Vol. 42 (7), pp. 901-910. Date of Electronic Publication: 2022 May 20.
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8
Report
Expanded Genetic Spectrum and Variable Disease Onset in AOPEP-Associated Dystonia.
Autor: Menden B; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Gutschalk A; Department of Neurology, Heidelberg University Hospital, Heidelberg, Germany., Wunderlich G; Department of Neurology, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.; Centre for Rare Diseases, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Centre for Rare Diseases, University of Tübingen, Tübingen, Germany.
Publikováno v: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2022 May; Vol. 37 (5), pp. 1113-1115.
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9
Akademický článek
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10
Akademický článek
Abundance of Human Pathogenic Microorganisms in the Halophyte Salicornia europaea L.: Influence of the Chemical Composition of Shoots and Soils.
Autor: Marangi, Matteo1,2 (AUTHOR) kai-uwe.eckhardt@uni-rostock.de, Szymanska, Sonia1 (AUTHOR) soniasz@umk.pl, Eckhardt, Kai-Uwe2 (AUTHOR) felix.beske2@uni-rostock.de, Beske, Felix2 (AUTHOR) gerald.jandl@uni-rostock.de, Jandl, Gerald2 (AUTHOR) christel.baum@uni-rostock.de, Hrynkiewicz, Katarzyna1 (AUTHOR) hrynk@umk.pl, Pétillon, Julien3,4 (AUTHOR) julien.petillon@univ-rennes.fr, Baum, Christel2 (AUTHOR), Leinweber, Peter2,5 (AUTHOR) peter.leinweber@uni-rostock.de
Publikováno v: Agronomy. Nov2024, Vol. 14 Issue 11, p2740. 11p.
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