Zobrazeno 1 - 10
of 753
pro vyhledávání: '"Lagerstedt Robinson K"'
Autor:
Maya-González C; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institute, Stockholm, Sweden., Delgado-Vega AM; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institute, Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden., Taylan F; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institute, Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden., Lagerstedt Robinson K; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institute, Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden., Hansson L; Department of Oncology, Sahlgrenska University Hospital, Gothenburg, Sweden., Pal N; Department of Pediatric Oncology, Astrid Lindgren Children's Hospital, Stockholm, Sweden., Fagman H; Department of Laboratory Medicine, University of Gothenburg, Gothenburg, Sweden.; Department of Clinical Pathology, Sahlgrenska University Hospital, Gothenburg, Sweden., Puls F; Department of Clinical Pathology, Sahlgrenska University Hospital, Gothenburg, Sweden., Wessman S; Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden.; Department of Pathology and Cancer Diagnostics, Karolinska University Hospital, Stockholm, Sweden., Stenman J; Department of Pediatric Surgery, Karolinska University Hospital, Stockholm, Sweden., Georgantzi K; Childhood Cancer Research Unit, Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden., Fransson S; Department of Laboratory Medicine, University of Gothenburg, Gothenburg, Sweden.; Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden., Díaz De Ståhl T; Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden.; Department of Pathology and Cancer Diagnostics, Karolinska University Hospital, Stockholm, Sweden., Ek T; Children Cancer Center, Queen Silvia Children's Hospital, Gothenburg, Sweden., Palmer R; Department of Medical Biochemistry and Cell Biology, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden., Tesi B; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institute, Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Medicine Huddinge, Karolinska Institutet, Stockholm, Sweden., Kogner P; Childhood Cancer Research Unit, Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden., Martinsson T; Department of Laboratory Medicine, University of Gothenburg, Gothenburg, Sweden.; Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden., Nordgren A; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institute, Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Laboratory Medicine, University of Gothenburg, Gothenburg, Sweden.; Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Dec; Vol. 194 (12), pp. e63812. Date of Electronic Publication: 2024 Jul 11.
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.
Autor:
Delgado-Vega AM; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden. angelica.delgado.vega@ki.se.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden. angelica.delgado.vega@ki.se., Cederroth H; Wilhelm Foundation, Brottby, Sweden., Taylan F; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Ekholm K; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Ek M; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Thonberg H; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Jemt A; Science for Life Laboratory, Department of Microbiology, Tumor and Cell Biology, Karolinska Institutet, Stockholm, Sweden.; Genomic Medicine Center Karolinska, Karolinska University Hospital, Stockholm, Sweden., Nilsson D; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Science for Life Laboratory, Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Eisfeldt J; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Science for Life Laboratory, Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Bilgrav Saether K; Science for Life Laboratory, Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Höijer I; Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.; Science for Life Laboratory, Uppsala University, Uppsala, Sweden., Akgun-Dogan O; Division of Pediatric Genetics, Department of Pediatrics, School of Medicine, Acibadem University, Istanbul, Turkey.; ACURARE, Acibadem University Rare Diseases and Orphan Drugs Application and Research Center, Istanbul, Turkey.; Department of Medical Genetics, Acibadem University, Istanbul, Turkey., Asano Y; Swallow Design Studio, Tokyo, Japan., Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, the Netherlands., Batkovskyte D; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Baynam G; Rare Care Centre, Perth Children's Hospital, Perth, Western Australia, Australia.; Western Australian Register of Developmental Anomalies, Perth, Western Australia, Australia.; Undiagnosed Diseases Program, Genetic Health WA, King Edward Memorial Hospital, Perth, Western Australia, Australia.; Faculty of Medicine, Australian National University, Perth, Western Australia, Australia., Bodamer O; Department of Pediatrics, Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Chetruengchai W; Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, Thailand., Corcoran P; Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.; Science for Life Laboratory, Uppsala University, Uppsala, Sweden., Couse M; Centre for Computational Medicine, Hospital for Sick Children, Toronto, Ontario, Canada., Danis D; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA., Demidov G; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Dohi E; National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan., Erhardsson M; Department of Medical Biochemistry and Cell Biology, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden., Fernandez-Luna L; International Laboratory for Human Genome Research, Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México (UNAM), Querétaro, Mexico., Fujiwara T; Database Center for Life Science, Joint Support-Center for Data Science Research, Research Organization of Information and Systems, Chiba, Japan., Garg N; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India., Giugliani R; Casa dos Raros, Porto Alegre, Brazil.; Department of Genetics, Federal University of Rio Grande do Sul, Porto Alegre, Brazil.; Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil.; Dasa Genomica, São Paulo, Brazil., Gonzaga-Jauregui C; International Laboratory for Human Genome Research, Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México (UNAM), Querétaro, Mexico., Grigelioniene G; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Groza T; Rare Care Centre, Perth Children's Hospital, Perth, Western Australia, Australia.; SingHealth Duke-NUS Institute of Precision Medicine, Singapore, Singapore.; Telethon Kids Institute, Perth, Western Australia, Australia.; School of Electrical Engineering, Computing and Mathematical Sciences, Curtin University, Perth, Western Australia, Australia., Gunnarsson C; Department of Clinical Genetics, Department of Biomedical and Clinical Sciences, Centre for Rare Diseases in Southeast Region of Sweden, Linköping University, Linköping, Sweden., Hammarsjö A; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Hammond CK; Division of Pediatric Genetics, Department of Pediatrics, School of Medicine, Acibadem University, Istanbul, Turkey.; Department of Child Health, Komfo Anokye Teaching Hospital, Kwame Nkrumah University of Science and Technology, Kumasi, Ghana., Hatirnaz Ng Ö; ACURARE, Acibadem University Rare Diseases and Orphan Drugs Application and Research Center, Istanbul, Turkey.; Department of Medical Genetics, Acibadem University, Istanbul, Turkey.; Department of Medical Biology, School of Medicine, Acibadem University, Istanbul, Turkey., Hesketh S; Oxford Nanopore Technologies, Oxford, UK., Hettiarachchi D; Department of Anatomy, Genetics and Biomedical Informatics, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka., Johansson Soller M; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Kirmani UA; Karachi Grammar School, Karachi, Pakistan., Kjellberg M; KTH Royal Institute of Technology, Stockholm, Sweden., Kvarnung M; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Kvlividze O; School of Medicine, New Vision University, Tbilisi, Georgia.; Georgian Foundation for Genetic and Rare Diseases, Tbilisi, Georgia., Lagerstedt-Robinson K; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Lasko P; Department of Biology, McGill University, Montreal, Quebec, Canada., Lassmann T; Telethon Kids Institute, University of Western Australia, Perth, Western Australia, Australia., Lau LYS; Genome Diagnostic, The Hospital for Sick Children, Toronto, Ontario, Canada., Laurie S; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain., Lim WK; SingHealth Duke-NUS Institute of Precision Medicine, Singapore, Singapore.; Cancer & Stem Cell Biology Program, Duke-NUS Medical School, Singapore, Singapore.; SingHealth Duke-NUS Genomic Medicine Centre, Singapore, Singapore.; Genome Institute of Singapore, Agency for Science, Technology and Research (A*STAR), Singapore, Singapore., Liu Z; Baylor College of Medicine, One Baylor Plaza, Houston, TX, USA., Lysenkova Wiklander M; Science for Life Laboratory, Uppsala University, Uppsala, Sweden.; Department of Medical Sciences, Uppsala University, Uppsala, Sweden., Makay P; Centre for Human Genetics, University of Kinshasa, Kinshasa, DR, Congo., Maiga AB; Faculté de Médecine et d'Odontostomatologie, Université des Sciences, des Techniques et des Technologies de Bamako, Bamako, Mali., Maya-González C; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Meyn MS; Center for Human Genomics and Precision Medicine, University of Wisconsin-Madison, Madison, WI, USA.; Department of Pediatrics, University of Wisconsin-Madison, Madison, WI, USA., Neethiraj R; Science for Life Laboratory, Department of Microbiology, Tumor and Cell Biology, Karolinska Institutet, Stockholm, Sweden.; School of Engineering Science in Chemistry, Biotechnology and Health, KTH Royal Institute of Technology, Stockholm, Sweden., Nigro V; Department of Precision Medicine, Università della Campania Luigi Vanvitelli, Naples, Italy.; TIGEM (Telethon Institute of Genetics and Medicine), Naples, Italy., Nordgren F; Department of Management and Engineering, Linköping University, Linköping, Sweden., Nordlund J; Science for Life Laboratory, Uppsala University, Uppsala, Sweden.; Department of Medical Sciences, Uppsala University, Uppsala, Sweden., Orrsjö S; Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden.; Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden., Ottosson J; Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden.; Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden., Ozbek U; ACURARE, Acibadem University Rare Diseases and Orphan Drugs Application and Research Center, Istanbul, Turkey.; Rare and Undiagnosed Disease Platform-RUDiP, Izmir Biomedicine and Genome Center-IBG, Izmir, Turkey., Özdemir Ö; ACURARE, Acibadem University Rare Diseases and Orphan Drugs Application and Research Center, Istanbul, Turkey.; Department of Medical Biology, School of Medicine, Acibadem University, Istanbul, Turkey., Partin C; Medicine, Emory Healthcare, Emory University, Atlanta, GA, USA.; Emory Special Diagnostic Services Clinic, Emory University School of Medicine, Atlanta, GA, USA., Pearce DA; Sanford Research, Sioux Falls, SD, USA.; Sanford Health, Sioux Falls, SD, USA.; Department of Pediatrics, Sanford School of Medicine, University of South Dakota, Sioux Falls, SD, USA.; International Rare Disease Research Consortium (IRDiRC)., Peck R; Clarion I, London, UK., Pedersen A; Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden.; Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden., Pettersson M; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Pongpanich M; Department of Mathematics and Computer Science, Faculty of Science, Chulalongkorn University, Bangkok, Thailand.; Omics Sciences and Bioinformatics Center, Faculty of Science, Chulalongkorn University, Bangkok, Thailand., Posada de la Paz M; SpainUDP, Rare Diseases Research Institute, Instituto de Salud Carlos III, Madrid, Spain.; FCSAI, Madrid, Spain., Ramani A; Invitae, San Francisco, CA, USA., Romero JA; Universidad San Francisco de Quito, Quito, Ecuador., Romero VI; Universidad San Francisco de Quito, Quito, Ecuador., Rosenquist R; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Genomic Medicine Center Karolinska, Karolinska University Hospital, Stockholm, Sweden., Saw AM; The Syndrome Without A Name (SWAN) Clinic, University Hospital of Wales, Cardiff, UK.; Department of Neurology, University Hospital of Wales, Cardiff, UK., Spencer M; The Syndrome Without A Name (SWAN) Clinic, University Hospital of Wales, Cardiff, UK., Stattin EL; Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala University Hospital, Uppsala, Sweden., Srichomthong C; Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, Thailand., Tapia-Paez I; Division of Dermatology and Venereology, Department of Medicine, Solna, Karolinska Institutet, Stockholm, Sweden., Taruscio D; National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.; Study Centre KOS-Science, Art, Society, Rome, Italy., Taylor JP; Illumina Inc, San Diego, CA, USA., Tkemaladze T; Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia.; Department of Pediatrics, Givi Zhvania Pediatric Academic Clinic, Tbilisi State Medical University, Tbilisi, Georgia.; Center for Undiagnosed and Rare Diseases, Tbilisi State Medical University, Tbilisi, Georgia., Tully I; The Syndrome Without A Name (SWAN) Clinic, University Hospital of Wales, Cardiff, UK.; Department of Clinical Genetics, University Hospital of Wales, Cardiff, UK., Tümer Z; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Medicine and Health Sciences, University of Copenhagen, Copenhagen, Denmark., van Zelst-Stams WAG; Department of Human Genetics, Radboud Institute for Health Science, Radboud University Medical Center, Nijmegen, the Netherlands., Verloes A; ERN-ITHACA European Reference Network for Rare Malformation Syndromes, Intellectual and Other Neurodevelopmental Disorders.; Department of Clinical Genetics, Robert-Debré Hospital, Paris, France., Västerviga E; Bioinformatics and Data Centre, Gothenburg University, Gothenburg, Sweden.; Bioinformatics and Data Centre, Sahlgrenska University Hospital, Gothenburg, Sweden., Wang S; Division of Dermatology and Venereology, Department of Medicine, Solna, Karolinska Institutet, Stockholm, Sweden., Yang R; Rare Diseases Center, Zhongshan Hospital, Fudan University, Shanghai, China.; China Alliance for Rare Diseases, Beijing, China., Yamamoto S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA., Yépez VA; School of Computation, Information and Technology, Technical University of Munich, Garching, Germany., Zhang Q; Illumina Inc, San Diego, CA, USA., Shotelersuk V; Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, Thailand., Wiafe SA; Rare Disease Ghana Initiative, Accra, Ghana., Alanay Y; Division of Pediatric Genetics, Department of Pediatrics, School of Medicine, Acibadem University, Istanbul, Turkey.; ACURARE, Acibadem University Rare Diseases and Orphan Drugs Application and Research Center, Istanbul, Turkey.; Department of Medical Genetics, Acibadem University, Istanbul, Turkey., Botto LD; Division of Medical Genetics, Dept of Pediatrics, University of Utah, Salt Lake City, UT, USA., Kirmani S; Division of Women & Child Health, Aga Khan University, Karachi, Pakistan., Lumaka A; Centre for Human Genetics, University of Kinshasa, Kinshasa, DR, Congo.; Department of Pediatrics, Faculty of Medicine, University of Kinshasa, Kinshasa, DR, Congo.; African Rare Diseases Initiative., Palmer EE; Discipline of Paediatrics and Child Health, Faculty of Medicine and Health, UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Clinical Genetics, Sydney Children's Hospitals Network, Randwick, New South Wales, Australia., Puri RD; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.; Ganga Ram Institute of Postgraduate Medical Education and Research (GRIPMER), Sir Ganga Ram Hospital, New Delhi, India., Wirta V; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Science for Life Laboratory, Department of Microbiology, Tumor and Cell Biology, Karolinska Institutet, Stockholm, Sweden., Lindstrand A; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Buske OJ; PhenoTips, Toronto, Ontario, Canada., Cederroth M; Wilhelm Foundation, Brottby, Sweden., Nordgren A; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden. ann.nordgren@ki.se.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden. ann.nordgren@ki.se.; Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden. ann.nordgren@ki.se.; Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden. ann.nordgren@ki.se.
Publikováno v:
Nature genetics [Nat Genet] 2024 Nov; Vol. 56 (11), pp. 2287-2294.
Autor:
Strålfors A; Department of Laboratory Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Microbiology, Karolinska University Hospital, Stockholm, Sweden., Lagerstedt-Robinson K; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden., Landin B; Department of Laboratory Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Chemistry, Karolinska University Hospital, Stockholm, Sweden.
Publikováno v:
Clinical chemistry [Clin Chem] 2024 Sep 03; Vol. 70 (9), pp. 1185-1187.
Autor:
Paucar M; Department of Neurology, Karolinska University Hospital, Stockholm, Sweden.; Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden., Nilsson D; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Science for Life Laboratory, Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Engvall M; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden., Laffita-Mesa J; Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.; Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm, Sweden., Söderhäll C; Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden., Skorpil M; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Neuroradiology, Karolinska University Hospital, Stockholm, Sweden., Halldin C; Department of Clinical Neuroscience, Centre for Psychiatry Research, Karolinska Institutet, Stockholm, Sweden., Fazio P; Department of Clinical Neuroscience, Centre for Psychiatry Research, Karolinska Institutet, Stockholm, Sweden., Lagerstedt-Robinson K; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Solders G; Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.; Department of Neurophysiology, Karolinska University Hospital, Stockholm, Sweden., Angeria M; Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden., Varrone A; Department of Clinical Neuroscience, Centre for Psychiatry Research, Karolinska Institutet, Stockholm, Sweden., Risling M; Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden., Jiao H; Department of Biosciences and Nutrition, Karolinska Institutet, Huddinge, Sweden., Nennesmo I; Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden., Wedell A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden., Svenningsson P; Department of Neurology, Karolinska University Hospital, Stockholm, Sweden.; Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.
Publikováno v:
Journal of internal medicine [J Intern Med] 2024 Sep; Vol. 296 (3), pp. 234-248. Date of Electronic Publication: 2024 Jul 07.
Autor:
Johansson J; Department of Immunology, Genetics and Pathology, Biomedical Centre, Uppsala University, Uppsala, Sweden., Lidéus S; Department of Immunology, Genetics and Pathology, Biomedical Centre, Uppsala University, Uppsala, Sweden., Frykholm C; Department of Immunology, Genetics and Pathology, Biomedical Centre, Uppsala University, Uppsala, Sweden., Gunnarsson C; Department of Clinical Genetics, and Department of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden.; Centre for Rare Diseases in South East Region of Sweden, Linköping University, Linköping, Sweden., Mihalic F; Department of Medical Biochemistry and Microbiology, Uppsala University, Box 582, Husargatan 3, 751 23, Uppsala, Sweden., Gudmundsson S; Department of Immunology, Genetics and Pathology, Biomedical Centre, Uppsala University, Uppsala, Sweden.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Ekvall S; Department of Immunology, Genetics and Pathology, Biomedical Centre, Uppsala University, Uppsala, Sweden., Molin AM; Department of Immunology, Genetics and Pathology, Biomedical Centre, Uppsala University, Uppsala, Sweden., Pham M; Department of Immunology, Genetics and Pathology, Biomedical Centre, Uppsala University, Uppsala, Sweden., Vihinen M; Department of Experimental Medical Science, BMC B13, Lund University, SE-22 184, Lund, Sweden., Lagerstedt-Robinson K; Clinical Genetics, Karolinska University Hospital, Solna, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Nordgren A; Clinical Genetics, Karolinska University Hospital, Solna, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden.; Institute of Biomedicine, Department of Laboratory Medicine, University of Gothenburg, Gothenburg, Sweden., Jemth P; Department of Medical Biochemistry and Microbiology, Uppsala University, Box 582, Husargatan 3, 751 23, Uppsala, Sweden., Ameur A; Department of Immunology, Genetics and Pathology, Biomedical Centre, Uppsala University, Uppsala, Sweden., Annerén G; Department of Immunology, Genetics and Pathology, Biomedical Centre, Uppsala University, Uppsala, Sweden., Wilbe M; Department of Immunology, Genetics and Pathology, Biomedical Centre, Uppsala University, Uppsala, Sweden., Bondeson ML; Department of Immunology, Genetics and Pathology, Biomedical Centre, Uppsala University, Uppsala, Sweden. marielouise.bondeson@igp.uu.se.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Mar; Vol. 32 (3), pp. 333-341. Date of Electronic Publication: 2023 Jun 05.
Autor:
Andersson E; Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden. emil.andersson@regionstockholm.se.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden. emil.andersson@regionstockholm.se., Keränen A; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden., Lagerstedt-Robinson K; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden., Ghazi S; Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden., Lindblom A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden., Tham E; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden., Mints M; Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden. miriam.mints@ki.se.
Publikováno v:
Hereditary cancer in clinical practice [Hered Cancer Clin Pract] 2024 Aug 22; Vol. 22 (1), pp. 14. Date of Electronic Publication: 2024 Aug 22.
Autor:
Bryant P; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm.; Science for Life Laboratory Department of Biochemistry and Biophysics, Stockholm University., Walton Bernstedt S; Department of Medicine, Solna, Karolinska Institutet, Stockholm.; Karolinska University Hospital, Division of Gastroenterology, Medical Unit Gastroenterology, Dermatovenereology and Rheumatology, Stockholm, Sweden., Thutkawkorapin J; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm.; Department of Computer Engineering, Faculty of Engineering, Chulalongkorn 20 University, Bangkok, Thailand., Backman AS; Department of Medicine, Solna, Karolinska Institutet, Stockholm.; Hereditary Cancer, Medical Unit Breast Endocrine and Sarcoma tumour, Karolinska University Hospital., Lindblom A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm., Lagerstedt-Robinson K; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm.; Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden.
Publikováno v:
European journal of cancer prevention : the official journal of the European Cancer Prevention Organisation (ECP) [Eur J Cancer Prev] 2023 Mar 01; Vol. 32 (2), pp. 113-118. Date of Electronic Publication: 2022 Dec 06.
Autor:
Sennfält S; Department of Neurology, Karolinska University Hospital, Hälsovägen 13 R52, 141 86 Stockholm, Sweden; Department of Clinical Neuroscience, Karolinska Institutet, Nobels väg 6, 171 77 Stockholm, Sweden. Electronic address: stefan.sennfalt@gmail.com., Gustavsson P; Department of Clinical Genetics, Karolinska University Hospital, Karolinska Vägen, 171 76500 Solna, Sweden; Department of Molecular Medicine and Surgery, Karolinska Institutet, Nobels väg 6, 171 77 Stockholm, Sweden. Electronic address: peter.gustavsson@ki.se., Malmgren H; Department of Clinical Genetics, Karolinska University Hospital, Karolinska Vägen, 171 76500 Solna, Sweden; Department of Molecular Medicine and Surgery, Karolinska Institutet, Nobels väg 6, 171 77 Stockholm, Sweden. Electronic address: helena.malmgren@ki.se., Gilland E; Department of Neurology, Sahlgrenska University Hospital, Gothenburg, Blå stråket 7, 413 46 Göteborg, Sweden. Electronic address: ericgilland.jobb@telia.com., Almqvist H; Department of Clinical Neuroscience, Karolinska Institutet, Nobels väg 6, 171 77 Stockholm, Sweden; Department of Radiology, Capio S:t Goran Hospital, Sankt Göransplan 1, 112 19 Stockholm, Sweden. Electronic address: hakan.almqvist@capiostgoran.se., Oscarson M; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Anna Steckséns g 47, 171 76 Solna, Sweden. Electronic address: mikael.oscarson@regionstockholm.se., Engvall M; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Anna Steckséns g 47, 171 76 Solna, Sweden. Electronic address: martin.engvall@ki.se., Björkhem I; Science for Life Laboratory, Stockholm, Tomtebodavägen 23, 171 65 Solna, Sweden. Electronic address: ingemar.bjorkhem@ki.se., Nilsson D; Department of Clinical Genetics, Karolinska University Hospital, Karolinska Vägen, 171 76500 Solna, Sweden; Department of Laboratory Medicine, Karolinska Institutet, Stockholm, Alfred Nobels Allé 8, 141 52 Huddinge, Sweden. Electronic address: daniel.nilsson@ki.se., Lagerstedt-Robinson K; Department of Clinical Genetics, Karolinska University Hospital, Karolinska Vägen, 171 76500 Solna, Sweden; Department of Molecular Medicine and Surgery, Karolinska Institutet, Nobels väg 6, 171 77 Stockholm, Sweden. Electronic address: kristina.lagerstedt@ki.se., Svenningsson P; Department of Neurology, Karolinska University Hospital, Hälsovägen 13 R52, 141 86 Stockholm, Sweden; Department of Clinical Neuroscience, Karolinska Institutet, Nobels väg 6, 171 77 Stockholm, Sweden. Electronic address: per.svenningsson@ki.se., Paucar M; Department of Neurology, Karolinska University Hospital, Hälsovägen 13 R52, 141 86 Stockholm, Sweden; Department of Clinical Neuroscience, Karolinska Institutet, Nobels väg 6, 171 77 Stockholm, Sweden. Electronic address: martin.paucar-arce@regionstockolm.se.
Publikováno v:
Journal of the neurological sciences [J Neurol Sci] 2024 May 15; Vol. 460, pp. 123020. Date of Electronic Publication: 2024 Apr 18.
Autor:
Nordenskjöld A; Department of Women's and Children's Health and Center for Molecular Medicine, Karolinska Institutet, SE-17176, Stockholm, Sweden; Paediatric Surgery, Astrid Lindgren Children Hospital, Karolinska University Hospital, SE-17176, Stockholm, Sweden. Electronic address: agneta.nordenskjold@ki.se., Lagerstedt-Robinson K; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, SE-17176, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, SE-17176, Stockholm, Sweden. Electronic address: kristina.lagerstedt@ki.se., Anderlid BM; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, SE-17176, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, SE-17176, Stockholm, Sweden. Electronic address: britt.marie.anderlid@ki.se., Lundin J; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, SE-17176, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, SE-17176, Stockholm, Sweden. Electronic address: johanna.lundin@ki.se.
Publikováno v:
European journal of medical genetics [Eur J Med Genet] 2023 Oct; Vol. 66 (10), pp. 104824. Date of Electronic Publication: 2023 Aug 25.
Autor:
Paucar M; Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden; Department of Neurology, Karolinska University Hospital, Stockholm, Sweden. Electronic address: martin.paucar-arce@regionstockholm.se., Laffita-Mesa J; Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden. Electronic address: jose.laffita@ki.se., Niemelä V; Institute for Medical Sciences, Uppsala University, Uppsala, Sweden., Malmgren H; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden. Electronic address: helena.malmgren@regionstockholm.se., Nennesmo I; Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden. Electronic address: inger.nennesmo@regionstockholm.se., Lagerstedt-Robinson K; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden. Electronic address: kristina.lagerstedt-robinson@regionstockholm.se., Nordenskjöld M; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden. Electronic address: magnus.nordenskjold@ki.se., Svenningsson P; Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden; Department of Neurology, Karolinska University Hospital, Stockholm, Sweden. Electronic address: per.svenningsson@ki.se.
Publikováno v:
Journal of the neurological sciences [J Neurol Sci] 2023 Aug 15; Vol. 451, pp. 120707. Date of Electronic Publication: 2023 Jun 10.