Zobrazeno 1 - 10
of 781
pro vyhledávání: '"Undiagnosed diseases"'
Autor:
Slaba K; Department of Pediatrics, University Hospital Brno, Faculty of Medicine, Masaryk University, Cernopolni 9, 613 00, Brno, Czech Republic. slaba.katerina@fnbrno.cz., Pokorna P; Central European Institute of Technology, Masaryk University, Brno, Czech Republic.; Department of Biology, Faculty of Medicine, Masaryk University, Kamenice 5, 625 00, Brno, Czech Republic., Jugas R; Central European Institute of Technology, Masaryk University, Brno, Czech Republic.; Department of Biology, Faculty of Medicine, Masaryk University, Kamenice 5, 625 00, Brno, Czech Republic., Palova H; Central European Institute of Technology, Masaryk University, Brno, Czech Republic., Prochazkova D; Department of Pediatrics, University Hospital Brno, Faculty of Medicine, Masaryk University, Cernopolni 9, 613 00, Brno, Czech Republic., Aulicka S; Department of Pediatric Neurology, University Hospital Brno, Faculty of Medicine, Masaryk University, Brno, Czech Republic., Spanelova K; Department of Pediatric Neurology, University Hospital Brno, Faculty of Medicine, Masaryk University, Brno, Czech Republic., Danhofer P; Department of Pediatric Neurology, University Hospital Brno, Faculty of Medicine, Masaryk University, Brno, Czech Republic., Horak O; Department of Pediatric Neurology, University Hospital Brno, Faculty of Medicine, Masaryk University, Brno, Czech Republic., Tuckova J; Department of Pediatrics, University Hospital Brno, Faculty of Medicine, Masaryk University, Cernopolni 9, 613 00, Brno, Czech Republic., Kleiblova P; Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Gaillyova R; Department of Medical Genetics and Genomics, University Hospital Brno, Faculty of Medicine, Masaryk University Brno, Brno, Czech Republic., Hrunka M; Department of Pediatrics, University Hospital Brno, Faculty of Medicine, Masaryk University, Cernopolni 9, 613 00, Brno, Czech Republic., Jouza M; Department of Pediatrics, University Hospital Brno, Faculty of Medicine, Masaryk University, Cernopolni 9, 613 00, Brno, Czech Republic., Pinkova B; Department of Pediatrics, University Hospital Brno, Faculty of Medicine, Masaryk University, Cernopolni 9, 613 00, Brno, Czech Republic., Papez J; Department of Pediatrics, University Hospital Brno, Faculty of Medicine, Masaryk University, Cernopolni 9, 613 00, Brno, Czech Republic., Konecna P; Department of Pediatrics, University Hospital Brno, Faculty of Medicine, Masaryk University, Cernopolni 9, 613 00, Brno, Czech Republic., Zidkova J; Centre of Molecular Biology and Genetics, Department of Hematology, Oncology and Internal Medicine, Masaryk University and University Hospital Brno, Brno, Czech Republic., Stourac P; Department of Pediatric Anesthesiology and Intensive Care Medicine, University Hospital Brno and Faculty of Medicine, Masaryk University, Brno, Czech Republic.; Department of Simulation Medicine, Faculty of Medicine, Masaryk University, Brno, Czech Republic., Sterba J; Department of Pediatric Oncology, Faculty of Medicine, University Hospital Brno, Masaryk University, Brno, Czech Republic., Demlova R; Department of Pharmacology/CZECRIN, Masaryk University Faculty of Medicine, Brno, Czech Republic., Demlova E; Department of Pharmacology/CZECRIN, Masaryk University Faculty of Medicine, Brno, Czech Republic., Jabandziev P; Department of Pediatrics, University Hospital Brno, Faculty of Medicine, Masaryk University, Cernopolni 9, 613 00, Brno, Czech Republic.; Central European Institute of Technology, Masaryk University, Brno, Czech Republic., Slaby O; Central European Institute of Technology, Masaryk University, Brno, Czech Republic. oslaby@med.muni.cz.; Department of Biology, Faculty of Medicine, Masaryk University, Kamenice 5, 625 00, Brno, Czech Republic. oslaby@med.muni.cz.; Center of Precision Medicine, Department of Pathology, University Hospital Brno, Faculty of Medicine, Masaryk University, Brno, Czech Republic. oslaby@med.muni.cz.
Publikováno v:
Scientific reports [Sci Rep] 2024 Nov 20; Vol. 14 (1), pp. 28780. Date of Electronic Publication: 2024 Nov 20.
Autor:
Furuta Y; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, 2200 Children's Way, Nashville, TN, 37232, USA. yutaka.furuta@vumc.org.; Howard Hughes Medical Institute, University of Texas Southwestern Medical Center, Dallas, TX, USA. yutaka.furuta@vumc.org., Tinker RJ; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, 2200 Children's Way, Nashville, TN, 37232, USA., Hamid R; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, 2200 Children's Way, Nashville, TN, 37232, USA., Cogan JD; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, 2200 Children's Way, Nashville, TN, 37232, USA.; Howard Hughes Medical Institute, University of Texas Southwestern Medical Center, Dallas, TX, USA., Ezell KM; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, 2200 Children's Way, Nashville, TN, 37232, USA., Oglesbee D; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., DeBerardinis RJ; Children's Medical Center Research Institute, University of Texas Southwestern Medical Center, Dallas, TX, USA.; Howard Hughes Medical Institute, University of Texas Southwestern Medical Center, Dallas, TX, USA., Phillips JA 3rd; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, 2200 Children's Way, Nashville, TN, 37232, USA.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Nov 14; Vol. 19 (1), pp. 427. Date of Electronic Publication: 2024 Nov 14.
Autor:
Mulvihill JJ; National Human Genome Research Institute (National Institutes of Health), Bethesda, MD; Department of Pediatrics, University of Oklahoma, Oklahoma City, OK. Electronic address: johmulvihill@gmail.com., Findley L; National Human Genome Research Institute (National Institutes of Health), Bethesda, MD., Ni W; Department of Computer Science and Mathematics, Arcadia University, Glenside, PA., Sinsheimer JS; Departments of Human Genetics and of Computational Medicine and Biostatistics, University of California, Los Angeles, CA., Cole FS; Department of Pediatrics, Washington University, St. Louis, MO., Esteves C; Department of Biomedical Informatics, Harvard Medical School, Boston, MA., Bernstein JA; Department of Pediatrics, Stanford University, Stanford, CA., Newman JH; Department of Medicine, Vanderbilt University, Nashville, TN., Wheeler MT; Department of Pediatrics, Stanford University, Stanford, CA., Mokry JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Oct; Vol. 26 (10), pp. 101203. Date of Electronic Publication: 2024 Jul 02.
Autor:
Maccio U; From the Department of Pathology and Molecular Pathology, University Hospital of Zurich, Zurich, Switzerland (Maccio, Reinehr, Moch, Varga)., Meier CA; From the Department of Internal Medicine, University Hospital of Zurich, Zurich, Switzerland (Meier)., Reinehr M; From the Department of Pathology and Molecular Pathology, University Hospital of Zurich, Zurich, Switzerland (Maccio, Reinehr, Moch, Varga)., Ruschitzka F; From the Department of Cardiology, University Hospital of Zurich, Zurich, Switzerland (Ruschitzka)., Schüpbach R; From the Department of Intensive Medicine, University Hospital of Zurich, Zurich, Switzerland (Schüpbach)., Moch H; From the Department of Pathology and Molecular Pathology, University Hospital of Zurich, Zurich, Switzerland (Maccio, Reinehr, Moch, Varga)., Varga Z; From the Department of Pathology and Molecular Pathology, University Hospital of Zurich, Zurich, Switzerland (Maccio, Reinehr, Moch, Varga).
Publikováno v:
Archives of pathology & laboratory medicine [Arch Pathol Lab Med] 2025 Jan 01; Vol. 149 (1), pp. 60-66.
Autor:
Agimas MC; Department of Epidemiology and Biostatistics, Institute of Public Health, College of Medicine and Health Science, University of Gondar, Gondar, Ethiopia., Derseh NM; Department of Epidemiology and Biostatistics, Institute of Public Health, College of Medicine and Health Science, University of Gondar, Gondar, Ethiopia., Mamo F; Department of Epidemiology and Biostatistics, Institute of Public Health, College of Medicine and Health Science, University of Gondar, Gondar, Ethiopia., Abebe MT; Department of Nursing, College of Health Science, Debark University, Debark, Ethiopia., Yemanu T; Department of Epidemiology and Biostatistics, Institute of Public Health, College of Medicine and Health Science, University of Gondar, Gondar, Ethiopia., Asmamaw M; Department of Epidemiology and Biostatistics, Institute of Public Health, College of Medicine and Health Science, University of Gondar, Gondar, Ethiopia.
Publikováno v:
PloS one [PLoS One] 2024 Aug 23; Vol. 19 (8), pp. e0303940. Date of Electronic Publication: 2024 Aug 23 (Print Publication: 2024).
Autor:
Moynihan D; Curtin University, Perth, Australia., Monaco S; Health Catalyst, Utah, USA., Ting TW; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore, 229899, Singapore.; SingHealth Duke-NUS Genomic Medicine Centre, Singapore, Singapore., Narasimhalu K; SingHealth Duke-NUS Genomic Medicine Centre, Singapore, Singapore.; Department of Neurology, National Neuroscience Institute (Singapore General Hospital), Singapore, Singapore., Hsieh J; SingHealth Duke-NUS Genomic Medicine Centre, Singapore, Singapore.; Department of Internal Medicine, Singapore General Hospital, Singapore, Singapore., Kam S; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore, 229899, Singapore.; SingHealth Duke-NUS Genomic Medicine Centre, Singapore, Singapore., Lim JY; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore, 229899, Singapore.; SingHealth Duke-NUS Genomic Medicine Centre, Singapore, Singapore., Lim WK; SingHealth Duke-NUS Genomic Medicine Centre, Singapore, Singapore.; SingHealth Duke-NUS Institute of Precision Medicine, Singapore, Singapore.; Cancer & Stem Cell Biology Program, Duke-NUS Medical School, Singapore, Singapore.; Laboratory of Genome Variation Analytics, Genome Institute of Singapore, Singapore, Singapore., Davila S; SingHealth Duke-NUS Genomic Medicine Centre, Singapore, Singapore.; SingHealth Duke-NUS Institute of Precision Medicine, Singapore, Singapore., Bylstra Y; SingHealth Duke-NUS Genomic Medicine Centre, Singapore, Singapore.; SingHealth Duke-NUS Institute of Precision Medicine, Singapore, Singapore., Balakrishnan ID; SingHealth Duke-NUS Genomic Medicine Centre, Singapore, Singapore.; National Heart Centre Singapore, Singapore, Singapore., Heng M; SingHealth Office of Insights and Analytics, Singapore, Singapore., Chia E; SingHealth Office of Insights and Analytics, Singapore, Singapore., Yeo KK; National Heart Centre Singapore, Singapore, Singapore., Goh BK; Data Analytics Office, KK Women's and Children's Hospital, Singapore, Singapore., Gupta R; Curtin University, Perth, Australia., Tan T; Curtin University, Perth, Australia., Baynam G; Rare Care Centre, Perth Children's Hospital, Perth, WA, Australia.; Western Australian Register of Developmental Anomalies, Perth, WA, Australia., Jamuar SS; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore, 229899, Singapore. saumya.s.jamuar@singhealth.com.sg.; SingHealth Duke-NUS Genomic Medicine Centre, Singapore, Singapore. saumya.s.jamuar@singhealth.com.sg.; SingHealth Duke-NUS Institute of Precision Medicine, Singapore, Singapore. saumya.s.jamuar@singhealth.com.sg.
Publikováno v:
Scientific reports [Sci Rep] 2024 Mar 01; Vol. 14 (1), pp. 5056. Date of Electronic Publication: 2024 Mar 01.
Autor:
Siebold D; University of Alabama (UAB), School of Health Professions, Birmingham, Alabama, USA., Denton J; University of Alabama (UAB), School of Health Professions, Birmingham, Alabama, USA., Hurst ACE; UAB Department of Genetics, Birmingham, Alabama, USA., Moss I; UAB Department of Genetics, Birmingham, Alabama, USA., Korf B; UAB Department of Genetics, Birmingham, Alabama, USA.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Feb; Vol. 194 (2), pp. 131-140. Date of Electronic Publication: 2023 Sep 26.
Autor:
Bradshaw MS; Department of Computer Science, University of Colorado Boulder, Boulder, CO, United States of America., Gibbs C; Department of Statistics, Colorado State University, Fort Collins, CO, United States of America., Martin S; Department of Computer Science, University of Colorado Boulder, Boulder, CO, United States of America., Firman T; Precision Medicine Institute, Children's Hospital Colorado, Aurora, CO, United States of America., Gaskell A; Precision Medicine Institute, Children's Hospital Colorado, Aurora, CO, United States of America., Fosdick B; Department of Biostatistics & Informatics, Colorado School of Public Health, Aurora, CO, United States of America., Layer R; Department of Computer Science, University of Colorado Boulder, Boulder, CO, United States of America.
Publikováno v:
PloS one [PLoS One] 2024 Dec 26; Vol. 19 (12), pp. e0309205. Date of Electronic Publication: 2024 Dec 26 (Print Publication: 2024).
Autor:
Poli MC; Program for Immunogenetics and Translational Immunology, Institute of Science and Innovation in Medicine, Facultad de Medicina, Clinica Alemana Universidad del Desarrollo, Santiago, Chile.; Hospital Dr. Roberto del Río, Santiago, Chile., Rebolledo-Jaramillo B; Rare Diseases Program, Center for Genetics and Genomics, Institute of Science and Innovation in Medicine, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile., Lagos C; Rare Diseases Program, Center for Genetics and Genomics, Institute of Science and Innovation in Medicine, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile., Orellana J; Rare Diseases Program, Center for Genetics and Genomics, Institute of Science and Innovation in Medicine, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile., Moreno G; Rare Diseases Program, Center for Genetics and Genomics, Institute of Science and Innovation in Medicine, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile., Martín LM; Rare Diseases Program, Center for Genetics and Genomics, Institute of Science and Innovation in Medicine, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile.; Unidad de Gestión Clínica del Niño, Hospital Padre Hurtado, Santiago, Chile., Encina G; Biosoluciones UDD, Santiago, Chile., Böhme D; Rare Diseases Program, Center for Genetics and Genomics, Institute of Science and Innovation in Medicine, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile.; Biosoluciones UDD, Santiago, Chile., Faundes V; Laboratorio de Genética y Enfermedades Metabólicas, Instituto de Nutrición y Tecnología de los Alimentos (INTA), Universidad de Chile, Santiago, Chile., Zavala MJ; Hospital Base de Valdivia, Valdivia, Chile., Hasbún T; Department of Dermatology, Facultad de Medicina Universidad del Desarrollo, Clínica Alemana de Santiago, Vitacura, Chile.; Department of Dermatology, Hospital Exequiel González Cortés, Vitacura, Chile., Fischer S; Rare Diseases Program, Center for Genetics and Genomics, Institute of Science and Innovation in Medicine, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile., Brito F; Rare Diseases Program, Center for Genetics and Genomics, Institute of Science and Innovation in Medicine, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile., Araya D; Rare Diseases Program, Center for Genetics and Genomics, Institute of Science and Innovation in Medicine, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile., Lira M; Rare Diseases Program, Center for Genetics and Genomics, Institute of Science and Innovation in Medicine, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile., de la Cruz J; Program for Immunogenetics and Translational Immunology, Institute of Science and Innovation in Medicine, Facultad de Medicina, Clinica Alemana Universidad del Desarrollo, Santiago, Chile., Astudillo C; Hospital Dr. Roberto del Río, Santiago, Chile., Lay-Son G; Division of Pediatrics, Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile., Cares C; Genetics Unit, Hospital Dr Luis Calvo Mackenna, Santiago, Chile., Aracena M; Genetics Unit, Hospital Dr Luis Calvo Mackenna, Santiago, Chile., Martin ES; Hospital Dr Guillermo Grant Benavente, Concepcion, Chile., Coban-Akdemir Z; University of Texas Health Science Center at Houston, School of Public Health, Department of Epidemiology, Human Genetics and Environmental Sciences, Santiago, Chile.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA., Repetto GM; Rare Diseases Program, Center for Genetics and Genomics, Institute of Science and Innovation in Medicine, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile. grepetto@udd.cl.; Unidad de Gestión Clínica del Niño, Hospital Padre Hurtado, Santiago, Chile. grepetto@udd.cl.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Oct; Vol. 32 (10), pp. 1227-1237. Date of Electronic Publication: 2024 Jan 04.
Autor:
Curic E; Discipline of Paediatrics and Child Health, Faculty of Medicine and Health, School of Clinical Medicine, University of New South Wales, Bright Alliance Building, Level 8, Randwick, NSW, Australia., Ewans L; Discipline of Paediatrics and Child Health, Faculty of Medicine and Health, School of Clinical Medicine, University of New South Wales, Bright Alliance Building, Level 8, Randwick, NSW, Australia.; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, NSW, Australia.; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia., Pysar R; Discipline of Paediatrics and Child Health, Faculty of Medicine and Health, School of Clinical Medicine, University of New South Wales, Bright Alliance Building, Level 8, Randwick, NSW, Australia.; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, NSW, Australia.; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, NSW, Australia., Taylan F; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden., Botto LD; Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA., Nordgren A; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.; Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden., Gahl W; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA., Palmer EE; Discipline of Paediatrics and Child Health, Faculty of Medicine and Health, School of Clinical Medicine, University of New South Wales, Bright Alliance Building, Level 8, Randwick, NSW, Australia. Elizabeth.palmer@unsw.edu.au.; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, NSW, Australia. Elizabeth.palmer@unsw.edu.au.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Nov 09; Vol. 18 (1), pp. 348. Date of Electronic Publication: 2023 Nov 09.