Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Turnovec, Marek"'
Autor:
Schwarz M; Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic. martin.schwarz@lfmotol.cuni.cz.; PRENET - Laboratoře Lékařské Genetiky s.r.o., Pardubice, Czech Republic. martin.schwarz@lfmotol.cuni.cz., Geryk J; Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic., Havlovicová M; Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic., Mihulová M; Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic., Turnovec M; Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic., Ryba L; Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic., Martinková J; Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic., Macek M Jr; Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic., Palmer R; Faculty of Science and Engineering, Curtin University, Perth, Australia., Kočandrlová K; Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic.; Department of Anthropology and Human Genetics, Faculty of Science, Charles University, Prague, Czech Republic., Velemínská J; Department of Anthropology and Human Genetics, Faculty of Science, Charles University, Prague, Czech Republic., Moslerová V; Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic.
Publikováno v:
Scientific reports [Sci Rep] 2024 Apr 30; Vol. 14 (1), pp. 9873. Date of Electronic Publication: 2024 Apr 30.
Autor:
Gargano MA; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA., Matentzoglu N; Semanticly, Athens, Greece., Coleman B; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA., Addo-Lartey EB; Rare Disease Ghana Initiative, Accra, Ghana., Anagnostopoulos AV; The Jackson Laboratory, Bar Harbor, ME, USA., Anderton J; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA, USA., Avillach P; Harvard Medical School, Boston, MA, USA., Bagley AM; Shriners Children's Northern California, Sacramento, CA, USA., Bakštein E; National Institute of Mental Health, Klecany, Czech Republic., Balhoff JP; Renaissance Computing Institute, University of North Carolina, Chapel Hill, NC 27517, USA., Baynam G; Rare Care Centre, Perth Children's Hospital, Perth, Australia., Bello SM; The Jackson Laboratory, Bar Harbor, ME, USA., Berk M; Deakin University, IMPACT - the Institute for Mental and Physical Health and Clinical Translation, School of Medicine, Barwon Health, Geelong, Australia., Bertram H; Department of Psychiatry, University of Michigan, Ann Arbor, MI, USA., Bishop S; Department of Psychiatry and Behavioral Sciences, UCSF Weil Institute for Neuroscience, San Francisco, CA, USA., Blau H; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA., Bodenstein DF; Department of Pharmacology and Toxicology, University of Toronto, Toronto, ON, Canada., Botas P; Nostos Genomics GmbH, Berlin, Germany., Boztug K; St. Anna Children's Cancer Research Institute (CCRI), Vienna, Austria., Čady J; Institute of Health Information and Statistics of the Czech Republic, Prague, Czech Republic., Callahan TJ; Department of Biomedical Informatics, Columbia University Irving Medical Center, NY, NY, USA., Cameron R; Simon Fraser University, Burnaby, BC, Canada., Carbon SJ; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA., Castellanos F; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA., Caufield JH; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA., Chan LE; College of Public Health and Human Sciences, Oregon State University, Corvallis, OR 97331, USA., Chute CG; Schools of Medicine, Public Health, and Nursing, Johns Hopkins University, Baltimore, MD 21287, USA., Cruz-Rojo J; UDISGEN (Dysmorphology and Genetics Unit), 12 de Octubre Hospital, Madrid, Spain., Dahan-Oliel N; Department of Clinical Research, Shriners Hospitals for Children, Montreal, Quebec, Canada., Davids JR; Shriners Children's Northern California, Sacramento, CA, USA., de Dieuleveult M; Département I&D, AP-HP, Banque Nationale de Données Maladies Rares, Paris, France., de Souza V; European Bioinformatics Institute (EMBL-EBI), Wellcome Genome Campus, Hinxton CB10 1SD, UK., de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands., de Vries E; Tranzo, TSB, Tilburg University, Netherlands., DePaulo JR; Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA., Derfalvi B; Department of Pediatrics, Dalhousie University, Halifax, NS, Canada., Dhombres F; Fetal Medicine Department, Armand Trousseau Hospital, Sorbonne University, GRC26, INSERM, Limics, Paris, France., Diaz-Byrd C; Department of Psychiatry, University of Michigan, Ann Arbor, MI, USA., Dingemans AJM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands., Donadille B; St Antoine Hospital, Reference Center for Rare Growth Endocrine Disorders, Sorbonne University, AP-HP, INSERM, US14 - Orphanet, Plateforme Maladies Rares, Paris, France., Duyzend M; Massachusetts General Hospital, Boston, MA, USA., Elfeky R; Department of Immunology, GOS Hospital for Children NHS Foundation Trust, University College London, London, UK., Essaid S; Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Fabrizzi C; INSERM, US14 - Orphanet, Plateforme Maladies Rares, Paris, France., Fico G; Bipolar and Depressive Disorders Unit, Institute of Neuroscience, Hospital Clinic, University of Barcelona, IDIBAPS, CIBERSAM, Barcelona, Catalonia, Spain., Firth HV; Addenbrooke's Hospital, Cambridge University Hospitals, Cambridge, UK., Freudenberg-Hua Y; Department of Psychiatry, Feinstein Institutes for Medical Research, Northwell Health, Manhasset, NY, USA., Fullerton JM; Neuroscience Research Australia, Sydney, NSW, Australia., Gabriel DL; School of Medicine, Johns Hopkins University, Baltimore, MD 21287, USA., Gilmour K; Immunology, NIHR Great Ormond Street Hospital BRC, London, UK., Giordano J; Department of Obstetrics and Gynecology, Columbia University Irving Medical Center, New York, NY, USA., Goes FS; Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA., Moses RG; National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA., Green I; SNOMED International, London W2 6BD, UK., Griese M; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, German center for Lung research (DZL), Munich, Germany., Groza T; Rare Care Centre, Perth Children's Hospital, Perth, Australia., Gu W; Chinese HPO Consortium, Beijing, China., Guthrie J; Department of Structural and Computational Biology, University of Vienna; Max Perutz Labs, Vienna, Austria., Gyori B; Khoury College of Computer Sciences, Northeastern University, Boston, MA, USA., Hamosh A; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA., Hanauer M; INSERM, US14 - Orphanet, Plateforme Maladies Rares, Paris, France., Hanušová K; Institute of Health Information and Statistics of the Czech Republic, Prague, Czech Republic., He YO; University of Michigan Medical School, Ann Arbor, MI, USA., Hegde H; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA., Helbig I; Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Holasová K; Institute of Health Information and Statistics of the Czech Republic, Prague, Czech Republic., Hoyt CT; Khoury College of Computer Sciences, Northeastern University, Boston, MA, USA., Huang S; Chinese HPO Consortium, Beijing, China., Hurwitz E; University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Jacobsen JOB; William Harvey Research Institute, Queen Mary University of London, London, UK., Jiang X; Chinese HPO Consortium, Beijing, China., Joseph L; Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, Bethesda, MD, USA., Keramatian K; Department of Psychiatry, University of British Columbia, Vancouver, BC, Canada., King B; Department of Psychiatry and Behavioral Sciences, UCSF Weil Institute for Neuroscience, San Francisco, CA, USA., Knoflach K; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, German center for Lung research (DZL), Munich, Germany., Koolen DA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands., Kraus ML; University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Kroll C; William Harvey Research Institute, Queen Mary University of London, London, UK., Kusters M; Immunology, NIHR Great Ormond Street Hospital BRC, London, UK., Ladewig MS; Department of Ophthalmology, University Clinic Marburg - Campus Fulda, Fulda, Germany., Lagorce D; INSERM, US14 - Orphanet, Plateforme Maladies Rares, Paris, France., Lai MC; Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON, Canada., Lapunzina P; Institute of Medical and Molecular Genetics, Hospital Univ. La Paz, Madrid, Spain., Laraway B; University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Lewis-Smith D; Translational and Clinical Research Institute, Henry Wellcome Building, Framlington Place, Newcastle University, Newcastle-Upon-Tyne NE14LP, UK., Li X; Chinese HPO Consortium, Beijing, China., Lucano C; INSERM, US14 - Orphanet, Plateforme Maladies Rares, Paris, France., Majd M; Department of Psychiatry, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA., Marazita ML; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA, USA., Martinez-Glez V; Center for Genomic Medicine, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí (I3PT-CERCA), Sabadell, Spain., McHenry TH; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA, USA., McInnis MG; Department of Psychiatry, University of Michigan, Ann Arbor, MI, USA., McMurry JA; University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Mihulová M; Department of Biology and Medical Genetics, 2nd Medical Faculty of Charles University and University Hospital Motol, Prague, Czech Republic., Millett CE; Feinstein Institutes for Medical Research, Northwell Health, Manhasset, NY, USA., Mitchell PB; Discipline of Psychiatry & Mental Health, School of Clinical Medicine, Faculty of Medicine & Health, University of New South Wales, Sydney, NSW, Australia., Moslerová V; Department of Biology and Medical Genetics, 2nd Medical Faculty of Charles University and University Hospital Motol, Prague, Czech Republic., Narutomi K; Okinawa Prefectural Nanbu Medical Center & Children's Medical Center., Nematollahi S; School of Physical and Occupational Therapy, McGill University, Montreal, Quebec, Canada., Nevado J; Institute of Medical and Molecular Genetics, Hospital Univ. La Paz, Madrid, Spain., Nierenberg AA; Dauten Family Center for Bipolar Treatment Innovation, Massachusetts General Hospital, Boston, MA, USA., Čajbiková NN; Department of Biology and Medical Genetics, 2nd Medical Faculty of Charles University and University Hospital Motol, Prague, Czech Republic., Nurnberger JI Jr; Stark Neurosciences Research Institute, Departments of Psychiatry and Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA., Ogishima S; INGEM/ToMMo, Tohoku University, Sendai, Japan., Olson D; Data Collaboration Center, Data Science, Critical Path Institute, Tucson, AZ, USA., Ortiz A; Department of Psychiatry, University of Toronto, Toronto, ON, Canada., Pachajoa H; Centro de Investigaciones en Anomalías Congénitas y Enfermedades Raras (CIACER), Universidad Icesi, Cali, Colombia., Perez de Nanclares G; Molecular (epi) genetics lab, Bioaraba Health Research Institute, Araba University Hospital, Vitoria-Gasteiz, Spain., Peters A; Department of Psychiatry, Massachusetts General Hospital, Boston, MA, USA., Putman T; University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Rapp CK; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, German center for Lung research (DZL), Munich, Germany., Rath A; INSERM, US14 - Orphanet, Plateforme Maladies Rares, Paris, France., Reese J; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA., Rekerle L; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA., Roberts AM; National Heart & Lung Institute & MRC London Institute of Medical Sciences, Imperial College London, London W12 0HS, UK., Roy S; SNOMED International, London W2 6BD, UK., Sanders SJ; Department of Paediatrics, Institute of Developmental and Regenerative Medicine, University of Oxford, Oxford, UK., Schuetz C; Universitätsklinikum Carl Gustav Carus, Medizinische Fakultät, TU, Dresden, Germany., Schulte EC; Institute of Psychiatric Phenomics and Genomics (IPPG), LMU University Hospital, LMU Munich, Munich, Germany., Schulze TG; Department of Psychiatry and Behavioral Sciences, SUNY Upstate Medical University, Syracuse, NY, USA., Schwarz M; Department of Biology and Medical Genetics, 2nd Medical Faculty of Charles University and University Hospital Motol, Prague, Czech Republic., Scott K; Department of Psychiatry, Dalhousie University, Halifax, NS, Canada., Seelow D; Exploratory Diagnostic Sciences, Berliner Institut für Gesundheitsforschung - Charité, Berlin, Germany., Seitz B; Department of Ophthalmology, Saarland University Medical Center UKS, Homburg/Saar, Germany., Shen Y; Chinese HPO Consortium, Beijing, China., Similuk MN; National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA., Simon ES; Eisenberg Family Depression Center, University of Michigan, Ann Arbor, MI, USA., Singh B; Department of Psychiatry and Psychology, Mayo Clinic, Rochester, MN, USA., Smedley D; William Harvey Research Institute, Queen Mary University of London, London, UK., Smith CL; The Jackson Laboratory, Bar Harbor, ME, USA., Smolinsky JT; Human Genetics Institute of New Jersey, Rutgers University, Piscataway, NJ, USA., Sperry S; Department of Psychiatry, University of Michigan, Ann Arbor, MI, USA., Stafford E; The National Alliance on Mental Illness, Arlington, VA, USA., Stefancsik R; European Bioinformatics Institute (EMBL-EBI), Wellcome Genome Campus, Hinxton CB10 1SD, UK., Steinhaus R; Exploratory Diagnostic Sciences, Berliner Institut für Gesundheitsforschung - Charité, Berlin, Germany., Strawbridge R; Department of Psychological Medicine, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK., Sundaramurthi JC; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA., Talapova P; Institute for Research and Health Policy Studies, Tufts Medicine, Boston, MA 2111, USA., Tenorio Castano JA; Institute of Medical and Molecular Genetics, Hospital Univ. La Paz, Madrid, Spain., Tesner P; Department of Biology and Medical Genetics, 2nd Medical Faculty of Charles University and University Hospital Motol, Prague, Czech Republic., Thomas RH; Translational and Clinical Research Institute, Henry Wellcome Building, Framlington Place, Newcastle University, Newcastle-Upon-Tyne NE14LP, UK., Thurm A; Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, Bethesda, MD, USA., Turnovec M; Department of Biology and Medical Genetics, 2nd Medical Faculty of Charles University and University Hospital Motol, Prague, Czech Republic., van Gijn ME; Department of Genetics, University Medical Center Groningen, Groningen, Netherlands., Vasilevsky NA; Critical Path Institute, Tucson, AZ, USA., Vlčková M; Department of Biology and Medical Genetics, 2nd Medical Faculty of Charles University and University Hospital Motol, Prague, Czech Republic., Walden A; Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Wang K; Chinese HPO Consortium, Beijing, China., Wapner R; Department of Obstetrics and Gynecology, Columbia University Irving Medical Center, New York, NY, USA., Ware JS; National Heart & Lung Institute & MRC London Institute of Medical Sciences, Imperial College London, London W12 0HS, UK., Wiafe AA; Rare Disease Ghana Initiative, Accra, Ghana., Wiafe SA; Rare Disease Ghana Initiative, Accra, Ghana., Wiggins LD; National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA, USA., Williams AE; Institute for Research and Health Policy Studies, Tufts Medicine, Boston, MA 2111, USA., Wu C; Chinese HPO Consortium, Beijing, China., Wyrwoll MJ; Centre for Regenerative Medicine, Institute for Regeneration and Repair, Institute for Stem Cell Research, University of Edinburgh, Edinburgh, UK., Xiong H; Chinese HPO Consortium, Beijing, China., Yalin N; Department of Psychological Medicine, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK., Yamamoto Y; Database Center for Life Science, Joint Support-Center for Data Science Research, Research Organization of Information and Systems, Japan., Yatham LN; Department of Psychiatry, University of British Columbia, Vancouver, BC, Canada., Yocum AK; Department of Psychiatry, University of Michigan, Ann Arbor, MI, USA., Young AH; Psychological Medicine, Institute of Psychiatry, Psychology and Neuroscience, King's College London & South London and Maudsley NHS Foundation Trust, Bethlem Royal Hospital, Monks Orchard Road, Beckenham, Kent, London SE5 8AF, UK., Yüksel Z; Department of Human Genetics, Bioscientia Healthcare GmbH, Ingelheim, Germany., Zandi PP; Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA., Zankl A; Faculty of Medicine and Health, The University of Sydney, Camperdown, Australia., Zarante I; Institute of Human Genetics, Pontificia Universidad Javeriana, Bogotá, Colombia., Zvolský M; Institute of Health Information and Statistics of the Czech Republic, Prague, Czech Republic., Toro S; University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Carmody LC; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA., Harris NL; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA., Munoz-Torres MC; Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Danis D; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA., Mungall CJ; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA., Köhler S; Ada Health GmbH, Berlin, Germany., Haendel MA; University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Robinson PN; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.
Publikováno v:
Nucleic acids research [Nucleic Acids Res] 2024 Jan 05; Vol. 52 (D1), pp. D1333-D1346.
Autor:
Schwarz M; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic., Ryba L; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic., Křepelová A; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic., Moslerová V; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic., Zelinová M; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic., Turnovec M; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic., Martinková J; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic., Kratochvílová L; Department of Stomatology, Motol University Hospital, Prague, Czech Republic., Drahanský M; Department of Intelligent Systems, Faculty of Information Technology, Brno University of Technology, Brno, Czech Republic., Macek M Jr; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic., Havlovicová M; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2022 Apr; Vol. 188 (4), pp. 1083-1087. Date of Electronic Publication: 2021 Dec 14.
Autor:
Čopíková J; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic., Paděrová J; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic., Románková V; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic., Havlovicová M; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic., Balaščáková M; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic., Zelinová M; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic., Vejvalková Š; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic., Simandlová M; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic., Štěpánková J; Department of Ophthalmology, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic., Hořínová V; Reprofit International, Brno, Czech Republic., Kantorová E; Department of Medical Genetics, Nemocnice České Budějovice, České Budějovice, Czech Republic., Křečková G; GENNET, Liberec, Czech Republic., Pospíšilová J; Molecular Biology, AGEL Laboratories, Nový Jičín, Czech Republic., Boday A; Molecular Biology, AGEL Laboratories, Nový Jičín, Czech Republic., Meszarosová AU; DNA Laboratory, Department of Child Neurology, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic., Turnovec M; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic., Votýpka P; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic., Lišková P; Research Unit for Rare Diseases, Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic., Kremlíková Pourová R; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.
Publikováno v:
Annals of human genetics [Ann Hum Genet] 2020 Sep; Vol. 84 (5), pp. 380-392. Date of Electronic Publication: 2020 May 19.
Autor:
Nellåker C; Nuffield Department of Women's and Reproductive Health, University of Oxford, Oxford, United Kingdom.; Big Data Institute, University of Oxford, Oxford, United Kingdom.; Institute for Biomedical Engineering, University of Oxford, Oxford, United Kingdom., Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Baynam G; Western Australian Register of Developmental Anomalies, and Genetic Services of Western Australia, King Edward Memorial, Subiaco, WA, Australia.; Telethon Kids Institute and School of Paediatrics and Child Health, University of Western Australia, Perth, WA, Australia.; Spatial Sciences, Science and Engineering, Curtin University, Perth, WA, Australia., Bernier RA; Department of Psychiatry & Behavioral Science, University of Washington School of Medicine, Seattle, WA, United States., Bernier FPJ; Alberta Children's Hospital Research Institute, Calgary, AB, Canada., Boulanger V; National Organization for Rare Disorders, Danbury, CT, United States., Brudno M; Department of Computer Science, University of Toronto and the Hospital for Sick Children, Toronto, Canada., Brunner HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands., Clayton-Smith J; Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Saint Mary's Hospital, Manchester, United Kingdom., Cogné B; CHU Nantes, Service de Génétique Médicale, Nantes, France., Dawkins HJS; Office of Population Health Genomics, Public and Aboriginal Health Division, Department of Health Government of Western Australia, Perth, WA, Australia.; Sir Walter Murdoch School of Policy and International Affairs, Murdoch University.; Centre for Population Health Research, Curtin University of Technology, Perth, WA, Australia., deVries BBA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands., Douzgou S; Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Saint Mary's Hospital, Manchester, United Kingdom., Dudding-Byth T; Hunter Genetics, Waratah, NSW, Australia., Eichler EE; Department of Genome Science, University of Washington School of Medicine, Seattle, WA, United States.; Howard Hughes Medical Institute, University of Washington, Seattle, WA, United States., Ferlaino M; Nuffield Department of Women's and Reproductive Health, University of Oxford, Oxford, United Kingdom.; Big Data Institute, University of Oxford, Oxford, United Kingdom., Fieggen K; Division of Human Genetics, Level 3, Wernher and Beit North, Institute of Infectious Disease and Molecular Medicine, Faculty of Health Sciences, University of Cape Town, Observatory, South Africa., Firth HV; Wellcome Trust Sanger Institute, Hinxton, Cambridge, United Kingdom., FitzPatrick DR; MRC Human Genetics Unit, IGMM, University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom., Gration D; Genetic Services of Western Australia, King Edward Memorial Hospital, Subiaco, WA, Australia., Groza T; The Garvan Institute, Sydney, NSW, Australia., Haendel M; Oregon Health & Science University, Portland, OR, United States., Hallowell N; Big Data Institute, University of Oxford, Oxford, United Kingdom.; Wellcome Centre for Ethics and Humanities, University of Oxford, Oxford, United Kingdom.; Ethox Centre, Nuffield Department of Population Health, University of Oxford, Oxford, United Kingdom., Hamosh A; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, United States., Hehir-Kwa J; Princess Máxima Center for Pediatric Oncology, Utrecht, Netherlands., Hitz MP; Department of Congenital Heart Disease and Pediatric Cardiology, University Hospital of Schleswig-Holstein-Campus Kiel, Kiel, Germany., Hughes M; Department of Clinical Neurosciences, Western General Hospital, Edinburgh, United Kingdom., Kini U; Oxford Centre for Genomic Medicine, Oxford, United Kingdom., Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands., Kooy RF; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium., Krawitz P; Institut für Genomische Statistik und Bioinformatik, Universitätsklinikum Bonn, Rheinische-Friedrich-Wilhelms-Universität, Bonn, Germany., Küry S; CHU Nantes, Service de Génétique Médicale, Nantes, France., Lees M; Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom., Lyon GJ; George A. Jervis Clinic and Institute for Basic Research in Developmental Disabilities (IBR), Staten Island, NY, United States., Lyonnet S; Imagine Institute, Paris, France., Marcadier JL; Alberta Children's Hospital Research Institute, Calgary, AB, Canada., Meyn S; Department of Computer Science, University of Toronto and the Hospital for Sick Children, Toronto, Canada., Moslerová V; Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University and University Hospital, Prague, Czechia., Politei JM; Laboratorio Chamoles, Errores Congénitos del Metabolismo, Buenos Aires, Argentina., Poulton CC; Department of Paediatrics and Neonates, Fiona Stanley Hospital, Perth, WA, Australia., Raymond FL; CIMR (Wellcome Trust/MRC Building), Cambridge, United Kingdom., Reijnders MRF; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands., Robinson PN; The Jackson Laboratory, Farmington, CT, United States., Romano C; Oasi Research Institute-IRCCS, Troina, Italy., Rose CM; Victorian Clinical Genetics Service and Murdoch Childrens Research Institute, The Royal Children's Hospital, Parkville, VIC, Australia., Sainsbury DCG; Northern & Yorkshire Cleft Lip and Palate Service, Royal Victoria Infirmary, Newcastle upon Tyne, United Kingdom., Schofield L; Genetic Services of Western Australia, King Edward Memorial Hospital, Subiaco, WA, Australia., Sutton VR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States., Turnovec M; Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University and University Hospital, Prague, Czechia., Van Dijck A; Department of Medical Genetics, University and University Hospital Antwerp, Antwerp, Belgium., Van Esch H; Center for Human Genetics, University Hospitals Leuven, University of Leuven, Leuven, Belgium., Wilkie AOM; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Headington, Oxford, United Kingdom.
Publikováno v:
Frontiers in genetics [Front Genet] 2019 Jul 29; Vol. 10, pp. 611. Date of Electronic Publication: 2019 Jul 29 (Print Publication: 2019).
Autor:
Mizzi C, Dalabira E, Kumuthini J, Dzimiri N, Balogh I, Başak N, Böhm R, Borg J, Borgiani P, Bozina N, Bruckmueller H, Burzynska B, Carracedo A, Cascorbi I, Deltas C, Dolzan V, Fenech A, Grech G, Kasiulevicius V, Kádaši Ľ, Kučinskas V, Khusnutdinova E, Loukas YL, Macek M Jr, Makukh H, Mathijssen R, Mitropoulos K, Mitropoulou C, Novelli G, Papantoni I, Pavlovic S, Saglio G, Sertić J, Stojiljkovic M, Stubbs AP, Squassina A, Torres M, Turnovec M, van Schaik RH, Voskarides K, Wakil SM, Werk A, Del Zompo M, Zukic B, Katsila T, Lee MT, Motsinger-Rief A, Mc Leod HL, van der Spek PJ, Patrinos GP
Publikováno v:
PloS one [PLoS One] 2017 Feb 16; Vol. 12 (2), pp. e0172595. Date of Electronic Publication: 2017 Feb 16 (Print Publication: 2017).
Autor:
Mlčoch T; Institute of Health Economics and Technological Assessment, Prague, Czech Republic., Klimeš J; Department of Social and Clinical Pharmacy, Faculty of Pharmacy, Charles University in Prague, Prague, Czech Republic., Fila L; Department of Pneumology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic., Vávrová V; Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic., Skalická V; Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic., Turnovec M; Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, V Úvalu 84, 15006, Prague 5, Czech Republic., Krulišová V; Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, V Úvalu 84, 15006, Prague 5, Czech Republic., Jirčíková J; Institute of Health Economics and Technological Assessment, Prague, Czech Republic., Zemková D; Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic., Dědečková KV; Department of Medical Microbiology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic., Bílková A; Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic., Frühaufová V; Division of Health Insurance, University Hospital Motol, Prague, Czech Republic., Homola L; Department of Children's Infectious Diseases, Faculty of Medicine of Masaryk University, University Hospital, Brno, Czech Republic., Friedmannová Z; Division of Health Insurance, University Hospital Motol, Prague, Czech Republic., Drnek R; Division of Health Insurance, University Hospital Motol, Prague, Czech Republic., Dřevínek P; Department of Medical Microbiology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic., Doležal T; Institute of Health Economics and Technological Assessment, Prague, Czech Republic., Macek M Jr; Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, V Úvalu 84, 15006, Prague 5, Czech Republic. Milan.Macek.Jr@LFmotol.cuni.cz.
Publikováno v:
The European journal of health economics : HEPAC : health economics in prevention and care [Eur J Health Econ] 2017 Jan; Vol. 18 (1), pp. 73-82. Date of Electronic Publication: 2016 Jan 07.
Autor:
Mizzi C; Erasmus University Medical Center, Faculty of Medicine, Department of Bioinformatics, Rotterdam, the Netherlands.; University of Malta, Faculty of Medicine and Surgery, Department of Physiology and Biochemistry, Msida, Malta., Dalabira E; University of Patras School of Health Sciences, Department of Pharmacy, Patras, Greece., Kumuthini J; Center for Proteomic and Genomic Research, Observatory, Cape Town, South Africa., Dzimiri N; King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia., Balogh I; University of Debrecen, Debrecen, Hungary., Başak N; Boğaziçi University, Istanbul, Turkey., Böhm R; University of Kiel, Institute for Experimental and Clinical Pharmacology, Kiel, Germany., Borg J; University of Malta, Department of Applied Biomedical Science, Faculty of Health Sciences, Msida, Malta., Borgiani P; University of Rome 'Tor Vergata', Department of Biomedicine and Prevention, Rome, Italy., Bozina N; University Hospital Centre, Zagreb, Croatia., Bruckmueller H; University of Kiel, Institute for Experimental and Clinical Pharmacology, Kiel, Germany., Burzynska B; Institute of Biochemistry and Biophysics, Polish Academy of Sciences, Warsaw, Poland., Carracedo A; University of Santiago de Compostela, Santiago, Spain., Cascorbi I; University of Kiel, Institute for Experimental and Clinical Pharmacology, Kiel, Germany., Deltas C; University of Cyprus, Molecular Medicine Research Center, Department of Biological Sciences, Nicosia, Cyprus., Dolzan V; University of Ljubljana Faculty of Medicine, Ljubljana, Slovenia., Fenech A; University of Malta, Faculty of Medicine, Department of Surgery, Msida, Malta., Grech G; University of Malta, Faculty of Medicine, Department of Surgery, Msida, Malta., Kasiulevicius V; Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Vilnius, Lithuania., Kádaši Ľ; Comenius University, Faculty of Natural Sciences, Bratislava, Slovakia.; Center for Molecular Medicine, Slovak Academy of Sciences, Bratislava, Slovakia., Kučinskas V; Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Vilnius, Lithuania., Khusnutdinova E; Institute of Biochemistry and Genetics, Ufa Scientific Center, Russian Academy of Sciences, Ufa, Russia.; Department of Genetics and Fundamental Medicine, Bashkir State University, Ufa, Russia., Loukas YL; University of Athens, Faculty of Pharmacy, Department of Pharmaceutical Chemistry, Athens, Greece., Macek M Jr; Charles University, 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Makukh H; Institute of Hereditary Pathology, Ukrainian National Academy of Medical Sciences, Lviv, Ukraine., Mathijssen R; Erasmus University Medical Center, Department of Clinical Chemistry, Rotterdam, the Netherlands., Mitropoulos K; The Golden Helix Foundation, London, United Kingdom., Mitropoulou C; Erasmus University Medical Center, Department of Clinical Chemistry, Rotterdam, the Netherlands., Novelli G; University of Rome 'Tor Vergata', Department of Biomedicine and Prevention, Rome, Italy., Papantoni I; University of Patras School of Health Sciences, Department of Pharmacy, Patras, Greece., Pavlovic S; Institute of Molecular Genetics and Genetic Engineering University of Belgrade, Laboratory of Molecular Biomedicine, Belgrade, Serbia., Saglio G; University of Turin School of Medicine, Turin, Italy., Setric J; University Hospital Centre, Zagreb, Croatia.; University of Zagreb School of Medicine, Zagreb, Croatia., Stojiljkovic M; Institute of Molecular Genetics and Genetic Engineering University of Belgrade, Laboratory of Molecular Biomedicine, Belgrade, Serbia., Stubbs AP; Erasmus University Medical Center, Faculty of Medicine, Department of Bioinformatics, Rotterdam, the Netherlands., Squassina A; University of Cagliari, Department of Biomedical Sciences, Cagliari, Italy., Torres M; University of Santiago de Compostela, Santiago, Spain., Turnovec M; Charles University, 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., van Schaik RH; Erasmus University Medical Center, Department of Clinical Chemistry, Rotterdam, the Netherlands., Voskarides K; University of Cyprus, Molecular Medicine Research Center, Department of Biological Sciences, Nicosia, Cyprus., Wakil SM; King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia., Werk A; University of Kiel, Institute for Experimental and Clinical Pharmacology, Kiel, Germany., Del Zompo M; University of Cagliari, Department of Biomedical Sciences, Cagliari, Italy., Zukic B; Institute of Molecular Genetics and Genetic Engineering University of Belgrade, Laboratory of Molecular Biomedicine, Belgrade, Serbia., Katsila T; University of Patras School of Health Sciences, Department of Pharmacy, Patras, Greece., Lee MT; RIKEN Institute, Center for Genomic Medicine, Laboratory for International Alliance, Yokohama, Japan., Motsinger-Rief A; North Carolina State University, Department of Statistics, Raleigh, NC, United States of America., Mc Leod HL; Moffitt Cancer Center, Tampa, FL, United States of America., van der Spek PJ; Erasmus University Medical Center, Faculty of Medicine, Department of Bioinformatics, Rotterdam, the Netherlands., Patrinos GP; Erasmus University Medical Center, Faculty of Medicine, Department of Bioinformatics, Rotterdam, the Netherlands.; University of Patras School of Health Sciences, Department of Pharmacy, Patras, Greece.
Publikováno v:
PloS one [PLoS One] 2016 Sep 16; Vol. 11 (9), pp. e0162866. Date of Electronic Publication: 2016 Sep 16 (Print Publication: 2016).
Autor:
Křenková P; Department of Biology and Medical Genetics, 2nd Faculty of Medicine of Charles University Prague and University Hospital Motol, Prague, Czech Republic., Piskáčková T, Holubová A, Balaščaková M, Krulišová V, Čamajová J, Turnovec M, Libik M, Norambuena P, Štambergová A, Dvořáková L, Skalická V, Bartošová J, Kučerová T, Fila L, Zemková D, Vávrová V, Koudová M, Macek M, Krebsová A, Macek M Jr
Publikováno v:
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society [J Cyst Fibros] 2013 Sep; Vol. 12 (5), pp. 532-7. Date of Electronic Publication: 2012 Dec 29.