Zobrazeno 1 - 10
of 106
pro vyhledávání: '"Schneeberger PE"'
Autor:
von Elsner L; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Chai G; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92130, USA.; Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing 100053, China., Schneeberger PE; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Harms FL; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Casar C; Bioinformatics Core, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Qi M; Bioinformatics Core, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Alawi M; Bioinformatics Core, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Abdel-Salam GMH; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt.; Centre of Excellence for Human Genetics, National Research Centre, Cairo 12311, Egypt., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt.; Centre of Excellence for Human Genetics, National Research Centre, Cairo 12311, Egypt., Arndt F; Department for Pediatric Cardiology, University Heart & Vascular Center Hamburg, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Yang X; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92130, USA., Stanley V; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92130, USA., Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Gleeson JG; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92130, USA., Kutsche K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
Publikováno v:
Brain : a journal of neurology [Brain] 2022 May 24; Vol. 145 (4), pp. 1551-1563.
Autor:
Holling T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany., Nampoothiri S; Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Centre, Cochin, 682041, Kerala, India., Tarhan B; Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine, Gainesville, FL, 32610, USA., Schneeberger PE; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany.; Amedes MVZ Wagnerstibbe für Laboratoriumsmedizin, Hämostaseologie, Humangenetik und Mikrobiologie Hannover, 30159, Hannover, Germany., Vinayan KP; Department of Pediatric Neurology, Amrita Institute of Medical Sciences & Research Centre, Cochin, 682041, Kerala, India., Yesodharan D; Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Centre, Cochin, 682041, Kerala, India., Roy AG; Department of Neurology, Amrita Institute of Medical Sciences & Research Centre, Cochin, 682041, Kerala, India., Radhakrishnan P; Suma Genomics Pvt. Ltd, Manipal Universal Technology Business Incubator (MUTBI), Manipal, 576104, India., Alawi M; Bioinformatics Core, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany., Rhodes L; GeneDx, Gaithersburg, MD, 20877, USA., Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal, 576104, India., Kang PB; Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine, Gainesville, FL, 32610, USA. pkang@umn.edu.; Paul and Sheila Wellstone Muscular Dystrophy Center, University of Minnesota Medical School, Minneapolis, MN, 55455, USA. pkang@umn.edu.; Department of Neurology, University of Minnesota Medical School, Minneapolis, MN, 55455, USA. pkang@umn.edu.; Institute for Translational Neuroscience, University of Minnesota Medical School, Minneapolis, MN, 55455, USA. pkang@umn.edu., Kutsche K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany. kkutsche@uke.de.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2022 Apr; Vol. 30 (4), pp. 439-449. Date of Electronic Publication: 2022 Jan 11.
Autor:
Schneeberger PE; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Nampoothiri S; Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Centre, Cochin 682041, Kerala, India., Holling T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Yesodharan D; Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Centre, Cochin 682041, Kerala, India., Alawi M; Bioinformatics Core, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Knisely AS; Institut für Pathologie, Medizinische Universität Graz, 8010 Graz, Austria., Müller T; Department of Pediatrics I, Medical University of Innsbruck, 6020 Innsbruck, Austria., Plecko B; Department of Pediatrics, Division of General Pediatrics, Medical University of Graz, 8010 Graz, Austria., Janecke AR; Department of Pediatrics I, Medical University of Innsbruck, 6020 Innsbruck, Austria.; Division of Human Genetics, Medical University of Innsbruck, 6020 Innsbruck, Austria., Kutsche K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
Publikováno v:
Brain : a journal of neurology [Brain] 2021 Nov 29; Vol. 144 (10), pp. 3036-3049.
Autor:
El Ghaleb Y; Institute of Physiology, Medical University Innsbruck, Innsbruck 6020, Austria., Schneeberger PE; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg 20251, Germany., Fernández-Quintero ML; Institute of Physiology, Medical University Innsbruck, Innsbruck 6020, Austria.; Institute of Theoretical Chemistry, University of Innsbruck, Innsbruck 6020, Austria., Geisler SM; Department of Pharmacology, University of Innsbruck, Innsbruck 6020, Austria., Pelizzari S; Institute of Physiology, Medical University Innsbruck, Innsbruck 6020, Austria., Polstra AM; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, 1012 WX, The Netherlands., van Hagen JM; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, 1012 WX, The Netherlands., Denecke J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg 20251, Germany., Campiglio M; Institute of Physiology, Medical University Innsbruck, Innsbruck 6020, Austria., Liedl KR; Institute of Theoretical Chemistry, University of Innsbruck, Innsbruck 6020, Austria., Stevens CA; Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, TN 37403, USA., Person RE; GeneDX, Gaithersburg, MD 20877, USA., Rentas S; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Marsh ED; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Conlin LK; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Tuluc P; Department of Pharmacology, University of Innsbruck, Innsbruck 6020, Austria., Kutsche K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg 20251, Germany., Flucher BE; Institute of Physiology, Medical University Innsbruck, Innsbruck 6020, Austria.
Publikováno v:
Brain : a journal of neurology [Brain] 2021 Aug 17; Vol. 144 (7), pp. 2092-2106.
Autor:
Sack, Anne-Sophie1,2 (AUTHOR), Samera, Gennerick J.3 (AUTHOR), Hissen, Anna3 (AUTHOR), Wester, Robert J.3 (AUTHOR), Garcia, Esperanza1,2 (AUTHOR), Adams, Paul J.3 (AUTHOR), Snutch, Terrance P.1,2 (AUTHOR) snutch@msl.ubc.ca
Publikováno v:
Molecular Brain. 11/20/2024, Vol. 17 Issue 1, p1-19. 19p.
Autor:
Nayak SS; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India., Schneeberger PE; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246, Hamburg, Germany., Patil SJ; Narayana Hrudayalaya Hospitals/Mazumdar-Shaw Medical Center, Bangalore, India., Arun KM; Narayana Hrudayalaya Hospitals/Mazumdar-Shaw Medical Center, Bangalore, India., Suresh PV; Narayana Hrudayalaya Hospitals/Mazumdar-Shaw Medical Center, Bangalore, India., Kiran VS; Narayana Hrudayalaya Hospitals/Mazumdar-Shaw Medical Center, Bangalore, India., Siddaiah S; Narayana Hrudayalaya Hospitals/Mazumdar-Shaw Medical Center, Bangalore, India., Maiya S; Narayana Hrudayalaya Hospitals/Mazumdar-Shaw Medical Center, Bangalore, India., Venkatachalagupta SK; Narayana Hrudayalaya Hospitals/Mazumdar-Shaw Medical Center, Bangalore, India., Kausthubham N; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India., Kortüm F; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246, Hamburg, Germany., Rau I; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246, Hamburg, Germany., Wey-Fabrizius A; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246, Hamburg, Germany., Van Den Heuvel L; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Meester J; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Van Laer L; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India., Loeys B; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India. girish.katta@manipal.edu., Kutsche K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246, Hamburg, Germany. kkutsche@uke.de.
Publikováno v:
Scientific reports [Sci Rep] 2021 Jan 12; Vol. 11 (1), pp. 764. Date of Electronic Publication: 2021 Jan 12.
Autor:
Schneeberger PE; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., von Elsner L; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Barker EL; Nottingham Biodiscovery Institute, University of Nottingham, University Park NG7 2RD, UK., Meinecke P; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Marquardt I; Klinik für Neuropädiatrie und angeborene Stoffwechselerkrankungen, Klinikum Oldenburg, 26133 Oldenburg, Germany., Alawi M; Bioinformatics Core, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Steindl K; Institute of Medical Genetics, University of Zürich, 8952 Schlieren, Switzerland., Joset P; Institute of Medical Genetics, University of Zürich, 8952 Schlieren, Switzerland., Rauch A; Institute of Medical Genetics, University of Zürich, 8952 Schlieren, Switzerland., Zwijnenburg PJG; Department of Clinical Genetics, Amsterdam University Medical Center, 1081 Amsterdam, the Netherlands., Weiss MM; Department of Clinical Genetics, Amsterdam University Medical Center, 1081 Amsterdam, the Netherlands., Merry CLR; Nottingham Biodiscovery Institute, University of Nottingham, University Park NG7 2RD, UK., Kutsche K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany. Electronic address: kkutsche@uke.de.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2020 Dec 03; Vol. 107 (6), pp. 1044-1061. Date of Electronic Publication: 2020 Nov 06.
Autor:
Schneeberger PE; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Nayak SS; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India., Fuchs S; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Kutsche K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2020 Nov; Vol. 182 (11), pp. 2793-2796. Date of Electronic Publication: 2020 Aug 11.
Autor:
Schneeberger PE; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Kortüm F; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Korenke GC; Klinik für Neuropädiatrie und angeborene Stoffwechselerkrankungen, Klinikum Oldenburg, Oldenburg, Germany., Alawi M; Bioinformatics Core Unit, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Santer R; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Woidy M; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Buhas D; Division of Medical Genetics, Department of Specialized Medicine, McGill University Health Centre, Montreal, Canada.; Human Genetics Department, McGill University, Montreal, Canada., Fox S; Division of Medical Genetics, Department of Specialized Medicine, McGill University Health Centre, Montreal, Canada.; Human Genetics Department, McGill University, Montreal, Canada., Juusola J; GeneDx, Gaithersburg, USA., Alfadhel M; Division of Genetics, Department of Pediatrics, King Abdullah specialized Children's Hospital, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.; King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia., Webb BD; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, USA.; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, USA.; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, USA., Coci EG; Department for Neuropediatrics, University Children's Hospital, Ruhr University Bochum, Bochum, Germany.; Department of Pediatrics, Prignitz Hospital, Brandenburg Medical School, Germany., Abou Jamra R; Institute of Human Genetics, University Medical Center Leipzig, Leipzig, Germany., Siekmeyer M; Universitätsklinikum Leipzig - AöR, University of Leipzig, Hospital for Children and Adolescents, Leipzig, Germany., Biskup S; CeGaT GmbH and Praxis für Humangenetik Tübingen, Tübingen, Germany., Heller C; CeGaT GmbH and Praxis für Humangenetik Tübingen, Tübingen, Germany., Maier EM; Dr. von Hauner Children's Hospital, University of Munich, Munich, Germany., Javaher-Haghighi P; Medicover Humangenetik Hannover, Hanover, Germany., Bedeschi MF; Medical Genetic Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Ajmone PF; Child and Adolescent Neuropsychiatric Unit, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan, Italy., Iascone M; Laboratorio di Genetica Medica, ASST Papa Giovanni XXIII, Bergamo, Italy., Peeters H; Center for Human Genetics, KU Leuven, Leuven, Belgium., Ballon K; Centre for Developmental Disabilities, Department of Development and Regeneration, KU Leuven, Leuven, Belgium., Jaeken J; Center for Metabolic Diseases, KU Leuven, Leuven, Belgium., Rodríguez Alonso A; Unidad de Patología Compleja, Servicio de Pediatría, Hospital Universitario La Paz, Madrid, Spain., Palomares-Bralo M; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII, Madrid, Spain., Santos-Simarro F; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII, Madrid, Spain., Meuwissen MEC; Center of Medical Genetics, University Hospital Antwerp, Antwerp, Belgium., Beysen D; Department of Pediatric Neurology, University Hospital Antwerp, Antwerp, Belgium., Kooy RF; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium., Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK., Murphy D; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK., Doosti M; Next Generation Genetic Polyclinic, Mashhad, Iran., Karimiani EG; Next Generation Genetic Polyclinic, Mashhad, Iran.; Genetics Research Centre, Molecular and Clinical Sciences Institute, St. George's, University, London, UK., Mojarrad M; Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Medical Genetics Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.; Genetic Center of Khorasan Razavi, Mashhad, Iran., Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK., Noskova L; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic., Kmoch S; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic., Honzik T; Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic., Cope H; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA., Sanchez-Valle A; Division of Genetics and Metabolism, College of Medicine, University of South Florida, Tampa, Florida, USA., Gelb BD; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, USA.; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, USA.; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, USA., Kurth I; Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany.; Institute of Human Genetics, Jena University Hospital, Jena, Germany., Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Kutsche K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Publikováno v:
Brain : a journal of neurology [Brain] 2020 Aug 01; Vol. 143 (8), pp. 2437-2453.
Autor:
Schneeberger PE; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Bierhals T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Neu A; Childrens Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Kutsche K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. kkutsche@uke.de.
Publikováno v:
Scientific reports [Sci Rep] 2019 Aug 29; Vol. 9 (1), pp. 12516. Date of Electronic Publication: 2019 Aug 29.