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Akademický článek

Epigenomic and phenotypic characterization of DEGCAGS syndrome.

Autor: Karimi K; Molecular Diagnostics Program, and Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada., Weis D; Department of Medical Genetics, Med Campus IV, Kepler University Hospital, Johannes Kepler, University, Linz, Austria., Aukrust I; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.; Department of Clinical Science, University of Bergen, Bergen, Norway., Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany., Horackova M; Department of Medical Genetics, Med Campus IV, Kepler University Hospital, Johannes Kepler, University, Linz, Austria., Paulsen J; Department of Medical Genetics, St. Olav's hospital, Trondheim University Hospital, Trondheim, Norway., Mendoza Londono R; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada., Dupuis L; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada., Dickson M; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada., Lesman H; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany.; Institute of Human Genetics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany., Lau T; Institute of Neurology, University College London, London, UK., Murphy D; Institute of Neurology, University College London, London, UK., Hama Salih K; Department of Pediatrics, College of Medicine, Sulaimani University, Sulaymaniyah, 46001, Iraq., Al-Musawi BMS; College of Medicine, University of Baghdad, Baghdad, Iraq., Al-Obaidi RGY; College of Medicine, University of Baghdad, Baghdad, Iraq.; The Teaching Laboratories, Medical city complex, Baghdad, Iraq., Rydzanicz M; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland., Biela M; Department of Pediatrics, Endocrinology, Diabetology and Metabolic Diseases, Wroclaw Medical University, Wroclaw, Poland., Santos MS; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal., Aldeeri A; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.; Department of Medicine, College of Medicine, King Saud University, Riyadh, Saudi Arabia., Gazda HT; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.; Takeda Development Center Americas, Inc., Cambridge, MA, USA., Pais L; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Shril S; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Døllner H; Department of Medical Genetics, St. Olav's hospital, Trondheim University Hospital, Trondheim, Norway.; Department of Clinical and Molecular Medicine, Norwegian University of Science and Technology, Trondheim, Norway., Bartakke S; Department of Clinical Hematology, Aditya Birla Memorial Hospital, Pune, India., Laccone F; Department of Pediatrics, Hospital of the Sister of Merci, Linz, Austria., Soltysova A; Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Bratislava, Slovakia.; Institute for Clinical and Translational Research, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia., Kitzler T; Department of Human Genetics, McGill University, Montreal, QC, Canada., Soliman NA; Department of Pediatrics, Center of Pediatric Nephrology & Transplantation, Cairo University, Egyptian Group for Orphan Renal Diseases, Cairo, Egypt., Relator R; Molecular Diagnostics Program, and Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada., Levy MA; Molecular Diagnostics Program, and Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada., Kerkhof J; Molecular Diagnostics Program, and Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada., Rzasa J; Molecular Diagnostics Program, and Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada., Houlden H; Institute of Neurology, University College London, London, UK., Pilshofer GV; Department of Pediatrics, Hospital of the Sister of Merci, Linz, Austria., Jobst-Schwan T; Harvard Medical School, Boston, MA, USA.; Department of Nephrology and Hypertension, University Hospital Erlangen, Friedrich-Alexander-University Erlangen-Nürnberg, Erlangen, Germany., Hildebrandt F; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Sousa SB; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.; University Clinic of Genetics, Faculty of Medicine, Universidade de Coimbra, Coimbra, Portugal., Maroofian R; Institute of Neurology, University College London, London, UK., Yu TW; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., Krawitz P; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany., Sadikovic B; Molecular Diagnostics Program, and Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada. bekim.sadikovic@lhsc.on.ca.; Department of Pathology and Laboratory Medicine, Western University, London, Canada. bekim.sadikovic@lhsc.on.ca., Douzgou Houge S; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway. sofia.douzgou.houge@helse-bergen.no.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Dec; Vol. 32 (12), pp. 1574-1582. Date of Electronic Publication: 2024 Oct 19.

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