부산대학교 도서관

Bena, F; Bruno, DL; Eriksson, M; van, Ravenswaaij-Arts C; Stark, Z; Dijkhuizen, T; Gerkes, E; Gimelli, S; Ganesamoorthy, D; Thuresson, AC

AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS. 162B(4):388-403

Rogers A; Golumbek P; Cellini E; Doccini V; Guerrini R; Wallgren-Pettersson C; Thuresson AC; Gurnett CA.

American Journal of Medical Genetics Part A. 176:1748-1752

Tesi B; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Medicine Huddinge, Center for Hematology and Regenerative Medicine, Karolinska Institutet, Stockholm, Sweden.; Robelius A; Department of Medical Sciences, Section of Hematology, Uppsala University, Uppsala, Sweden.; Baskin B; Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.; Department of Clinical Genetics, Uppsala University Hospital, Uppsala, Sweden.; Lazarevic V; Department of Hematology, Oncology and Radiation Physics, Skåne University Hospital, Lund, Sweden.; Deneberg S; Department of Medicine Huddinge, Center for Hematology and Regenerative Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Hematology, Karolinska University Hospital, Stockholm, Sweden.; Höglund M; Department of Medical Sciences, Section of Hematology, Uppsala University, Uppsala, Sweden.; Fogelstrand L; Department of Clinical Chemistry, Sahlgrenska University Hospital, Gothenburg, Sweden.; Department of Laboratory Medicine, University of Gothenburg, Gothenburg, Sweden.; Ungerstedt J; Department of Medicine Huddinge, Center for Hematology and Regenerative Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Hematology, Linköping University Hospital, Linköping, Sweden.; Pandzic T; Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.; Department of Clinical Genetics, Uppsala University Hospital, Uppsala, Sweden.; Clinical Genomics Uppsala, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.; Tobiasson M; Department of Medicine Huddinge, Center for Hematology and Regenerative Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Hematology, Karolinska University Hospital, Stockholm, Sweden.; Garelius HG; Department of Specialist Medicine, Section of Hematology and Coagulation, Sahlgrenska University Hospital, Gothenburg, Sweden.; Kuchinskaya E; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Clinical Genetics, Linköping University, Linköping, Sweden.; Department of Clinical Experimental Medicine, Linköping University, Linköping, Sweden.; Persson F; Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden.; Ågerstam H; Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, Lund, Sweden.; Department of Clinical Genetics, Pathology and Molecular Diagnostics, Office for Medical Services, Lund, Sweden.; Hallböök H; Department of Medical Sciences, Section of Hematology, Uppsala University, Uppsala, Sweden.; Fioretos T; Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, Lund, Sweden.; Department of Clinical Genetics, Pathology and Molecular Diagnostics, Office for Medical Services, Lund, Sweden.; Clinical Genomics Lund, Science for Life Laboratory, Lund University, Lund, Sweden.; Nordin J; Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.; Clinical Genomics Uppsala, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.; Norberg A; Department of Medical Biosciences, Medical and Clinical Genetics, Umeå University, Umeå, Sweden.; Thuresson AC; Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.; Department of Clinical Genetics, Uppsala University Hospital, Uppsala, Sweden.; Lehmann S; Department of Medicine Huddinge, Center for Hematology and Regenerative Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Medical Sciences, Section of Hematology, Uppsala University, Uppsala, Sweden.; Ladenvall C; Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.; Clinical Genomics Uppsala, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.; Barbany G; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Vennström L; Department of Specialist Medicine, Section of Hematology and Coagulation, Sahlgrenska University Hospital, Gothenburg, Sweden.; Institute of Medicine, Sahlgrenska Academy at Gothenburg University, Gothenburg, Sweden.; Ejerblad E; Department of Medical Sciences, Section of Hematology, Uppsala University, Uppsala, Sweden.; Cavelier L; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Cammenga J; Department of Hematology, Oncology and Radiation Physics, Skåne University Hospital, Lund, Sweden.; Division of Molecular Medicine and Gene Therapy, Lund University, Lund, Sweden.; Jädersten M; Department of Medicine Huddinge, Center for Hematology and Regenerative Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Hematology, Karolinska University Hospital, Stockholm, Sweden.; Hellström-Lindberg E; Department of Medicine Huddinge, Center for Hematology and Regenerative Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Hematology, Karolinska University Hospital, Stockholm, Sweden.; Baliakas P; Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.; Department of Clinical Genetics, Uppsala University Hospital, Uppsala, Sweden.; Clinical Genomics Uppsala, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.

Publisher: American Association for Cancer Research Country of Publication: United States NLM ID: 9502500 Publication Model: Print Cited Medium: Internet ISSN: 1557-3265 (Electronic) Linking ISSN: 10780432 NLM ISO Abbreviation: Clin Cancer Res Subsets: MEDLINE

Zaghlool A; Halvardson J; Zhao JJ; Etemadikhah M; Kalushkova A; Konska K; Jernberg-Wiklund H; Thuresson AC; Feuk L

Hum Mutat
Human Mutation

Halvardson J; Zhao JJ; Zaghlool A; Wentzel C; Georgii-Hemming P; Månsson E; Ederth Sävmarker H; Brandberg G; Soussi Zander C; Thuresson AC; Feuk L

J Med Genet
Journal of Medical Genetics

Efthymiou S; Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Leo CP; Department of Biology, Center for RNA Biology, University of Rochester, Rochester, NY, USA.; Deng C; Department of Biology, Center for RNA Biology, University of Rochester, Rochester, NY, USA.; Lin SJ; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.; Maroofian R; Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Lin R; Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Karagoz I; Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Zhang K; Department of Biology, Center for RNA Biology, University of Rochester, Rochester, NY, USA.; Kaiyrzhanov R; Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Scardamaglia A; Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Owrang D; Institute for Auditory Neuroscience and Inner Ear Lab, University Medical Center Göttingen, Robert-Koch-Str. 40, 37075 Göttingen, Germany; Institute of Human Genetics, University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073 Göttingen, Germany.; Turchetti V; Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Jahnke F; Institute for Auditory Neuroscience and Inner Ear Lab, University Medical Center Göttingen, Robert-Koch-Str. 40, 37075 Göttingen, Germany; Institute of Human Genetics, University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073 Göttingen, Germany.; Huang K; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.; Petree C; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.; Derrick AV; Neurology Research Group, Institute of Life Science, Swansea University Medical School, Swansea University, Swansea SA2 8PP, UK.; Rees MI; Neurology Research Group, Institute of Life Science, Swansea University Medical School, Swansea University, Swansea SA2 8PP, UK; Faculty of Medicine & Health, Camperdown, University of Sydney, Sydney, NSW, Australia.; Alvi JR; Department of Pediatric Neurology, Institute of Child Health, Children's Hospital, Lahore 54590, Pakistan.; Sultan T; Department of Pediatric Neurology, Institute of Child Health, Children's Hospital, Lahore 54590, Pakistan.; Li C; McMaster University, 1280 Main St W, Hamilton, ON L8S 4L8, Canada.; Jacquemont ML; Unité de Génétique Médicale et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, CHU de la Réunion, Saint-Pierre, France.; Tran-Mau-Them F; Unité Fonctionnelle Innovation en Diagnostic Génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France; INSERM UMR1231 GAD, F-21000 Dijon, France.; Valenzuela-Palafoll M; Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital and Medicine Genetics Group, Vall d'Hebron Research Institute, Barcelona, Spain.; Sidlow R; Department of Medical Genetics and Metabolism, Valley Children's Hospital, Madera, CA, USA.; Yoon G; Hospital for Sick Children, Toronto, ON, Canada; University of Toronto, Toronto, ON, Canada.; Morrow MM; GeneDx, LLC, Gaithersburg, MD 20877, USA.; Carere DA; GeneDx, LLC, Gaithersburg, MD 20877, USA.; O'Connor M; Department of Pediatrics, Southern Illinois University School of Medicine, Springfield, IL, USA.; Fleischer J; Department of Pediatrics, Southern Illinois University School of Medicine, Springfield, IL, USA.; Gerkes EH; Department of Medical Genetics, University of Groningen and University Medical Center Groningen, Department of Genetics, Groningen, the Netherlands.; Phornphutkul C; Division of Human Genetics, Department of Pediatrics, Warren Alpert Medical School of Brown University, Hasbro Children's Hospital, Providence, RI, USA.; Isidor B; Centre Hospitalier Universitaire de Nantes, Service de Génétique Médicale, Nantes, France; INSERM, CNRS, UNIV Nantes, L'institut du Thorax, Nantes, France.; Rivier-Ringenbach C; Hôpital Nord-Ouest, Service de Neuropédiatrie, Villefranche sur Saône, France.; Philippe C; Unité Fonctionnelle Innovation en Diagnostic Génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France; Laboratoire de Génétique, Hôpital Mercy, CHR Metz-Thionville, Metz, France.; Kurul SH; Department of Pediatric Neurology, Faculty of Medicine, Dokuz Eylül University, İzmir, Turkey; İzmir Biomedicine and Genome Center, Dokuz Eylül University Health Campus, İzmir, Turkey; İzmir International Biomedicine and Genome Institute, Dokuz Eylül University, İzmir, Turkey.; Soydemir D; Department of Pediatric Neurology, Faculty of Medicine, Dokuz Eylül University, İzmir, Turkey.; Kara B; Division of Pediatric Neurology, Department of Pediatrics, Kocaeli University, Kocaeli, Turkey.; Sunnetci-Akkoyunlu D; Department of Medical Genetics, Faculty of Medicine, Kocaeli University, Kocaeli, Turkey.; Bothe V; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Wieczorek D; Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany.; Koch-Hogrebe M; Vestische Kinder- und Jugendklinik Datteln, Abteilung für Neuropädiatrie, Datteln, Germany.; Rahner N; MVZ Institute for Clinical Genetics and Tumor Genetics, Bonn, Germany.; Thuresson AC; Department of Immunology, Genetics and Pathology, Uppsala University, 751 85 Uppsala, Sweden.; Matsson H; Department of Immunology, Genetics and Pathology, Uppsala University, 751 85 Uppsala, Sweden.; Frykholm C; Department of Immunology, Genetics and Pathology, Uppsala University, 751 85 Uppsala, Sweden.; Bozdoğan ST; VariantGen Genetic Diagnosis, Treatment, and Healthcare Center, Adana, Turkey.; Bisgin A; Cukurova University AGENTEM (Adana Genetic Diseases Diagnosis and Treatment Center), Adana, Turkey; VariantGen Genetic Diagnosis, Treatment, and Healthcare Center, Adana, Turkey.; Chatron N; Hospices Civils de Lyon, Service de Génétique, Centre Labélisé Anomalies du Développement CLAD Sud-Est, Lyon, France; Institut Neuromyogène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, Equipe Métabolisme énergétique et développement neuronal, CNRS UMR 5310, INSERM U1217, Université Lyon 1, Lyon, France.; Lesca G; Hospices Civils de Lyon, Service de Génétique, Centre Labélisé Anomalies du Développement CLAD Sud-Est, Lyon, France; Institut Neuromyogène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, Equipe Métabolisme énergétique et développement neuronal, CNRS UMR 5310, INSERM U1217, Université Lyon 1, Lyon, France.; Cabet S; Pediatric, Woman and Fetal Imaging Department, Hôpital Femme-Mère-Enfant, Hospices Civils de Lyon, 69500 Bron, France; Institut NeuroMyoGène, CNRS UMR5292, INSERM U1028, Claude Bernard Lyon 1 University, 69000 Lyon, France.; Tümer Z; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital-Rigshospitalet, Copenhagen, Denmark; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.; Hjortshøj TD; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital-Rigshospitalet, Copenhagen, Denmark.; Rønde G; Department of Paediatrics and Adolescent Medicine, University Hospital Herlev, Herlev, Denmark.; Marquardt T; Department of Paediatrics, Metabolic Diseases, University of Münster, Albert-Schweitzer-Campus 1, 48149 Münster, Germany.; Reunert J; Department of Paediatrics, Metabolic Diseases, University of Münster, Albert-Schweitzer-Campus 1, 48149 Münster, Germany.; Afzal E; Department of Developmental and Behavioral Pediatrics, Children's Hospital and Institute of Child Health, Multan, Punjab 60000, Pakistan.; Zamani M; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.; Azizimalamiri R; Department of Pediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Galehdari H; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Nourbakhsh P; Department of Neurology, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Chamanrou N; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.; Chung SK; Neurology Research Group, Institute of Life Science, Swansea University Medical School, Swansea University, Swansea SA2 8PP, UK; Brain & Mind Centre, Faculty of Medicine & Health, Camperdown, University of Sydney, Sydney, NSW, Australia; Kids Research, Children's Hospital at Westmead, Sydney, NSW, Australia.; Suri M; Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, City Hospital Campus, Nottingham, NG5 1PB, UK.; Benke PJ; Department of Clinical Genetics, Joe DiMaggio Children's Hospital, Hollywood, FL 33021, USA.; Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, Centre of Excellence of Human Genetics, National Research Centre, Cairo, Egypt.; Gleeson JG; Department of Neuroscience, Rady Children's Institute for Genomic Medicine, University of California, San Diego, San Diego, CA, USA.; Calame DG; Division of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Pehlivan D; Division of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Yilmaz HI; Department of Medical Genetics, Basaksehir Cam and Sakura City Hospital, Istanbul, Turkey.; Gezdirici A; Department of Medical Genetics, Basaksehir Cam and Sakura City Hospital, Istanbul, Turkey.; Rad A; Arcensus GmbH, Rostock, Germany.; Abumansour IS; Neurogenetic Section, Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Jeddah, Saudi Arabia; Department of Medical Genetics, Faculty of Medicine, Umm Al-Qura University, Makkah, Saudi Arabia; Department of Pediatrics, International Medical Center, Jeddah, Saudi Arabia.; Oprea G; Arcensus GmbH, Rostock, Germany.; Bereketoğlu MB; Ege University Hospital, Department of Medical Genetics, İzmir 35100, Turkey.; Banneau G; Department of Clinical Genetics, CHU Toulouse, Toulouse, France.; Julia S; Department of Clinical Genetics, CHU Toulouse, Toulouse, France.; Zeighami J; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.; Ashoori S; Department of Dermatology, School of Medicine, Jundishapur University of Medical Sciences, Ahvaz, Iran.; Shariati G; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Sedaghat A; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran; Health Research Institute, Diabetes Research Center, Jundishapur University of Medical Sciences, Ahvaz, Iran.; Sabri A; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Hamid M; Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran.; Parvas S; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.; Tajudin TA; KPJ Puteri Specialist Hospital, Hospital Sultan Ismail Johor, Johor Bahru, Malaysia.; Abdullah U; University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi 46301, Pakistan.; Baig SM; National Institute for Biotechnology and Genetic Engineering College (NIBGE-C), Faisalabad, Pakistan Institute of Engineering and Applied Sciences (PIEAS), Islamabad, Pakistan.; Chung WK; Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Glazunova OO; IHU Méditerranée Infection, 19-21 boulevard Jean Moulin, 13005 Marseille, France.; Sabine S; IHU Méditerranée Infection, 19-21 boulevard Jean Moulin, 13005 Marseille, France.; Cheema HA; Department of Pediatric Gastroenterology, Hepatology and Genetic Diseases, Children's Hospital and University of Child Health Sciences, Lahore, Pakistan.; Zifarelli G; CENTOGENE GmbH, Am Strande 7, 18055 Rostock, Germany.; Bauer P; CENTOGENE GmbH, Am Strande 7, 18055 Rostock, Germany.; Sidpra J; Developmental Biology and Cancer Section, University College London Great Ormond Street Institute of Child Health, London, UK.; Mankad K; Department of Radiology, Great Ormond Street Hospital for Children, London, UK.; Vona B; Institute for Auditory Neuroscience and Inner Ear Lab, University Medical Center Göttingen, Robert-Koch-Str. 40, 37075 Göttingen, Germany; Institute of Human Genetics, University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073 Göttingen, Germany.; Fry AE; Institute of Medical Genetics, University Hospital of Wales, Cardiff CF14 4XW, UK; Division of Cancer and Genetics, School of Medicine, Cardiff University, Cardiff CF14 4XW, UK.; Varshney GK; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.; Houlden H; Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK. Electronic address: h.houlden@ucl.ac.uk.; Fu D; Department of Biology, Center for RNA Biology, University of Rochester, Rochester, NY, USA. Electronic address: dragonyfu@rochester.edu.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Thuresson AC; Van Buggenhout G; Sheth F; Kamate M; Andrieux J; Clayton Smith J; Soussi Zander C

Thuresson, A C, Van Buggenhout, G, Sheth, F, Kamate, M, Andrieux, J, Clayton-Smith, J & Soussi Zander, C 2016, 'Whole gene duplication of SCN2A and SCN3A is associated with neonatal seizures and a normal intellectual development', Clinical Genetics. https://doi.org/10.1111/cge.12797

Popovici C; Busa T; Boute O; Thuresson AC; Perret O; Sigaudy S; Södergren T; Andrieux J; Moncla A; Philip N

American Journal of Medical Genetics Part A. 164:2324-2327

Boudry-Labis E; Demeer B; Le Caignec C; Isidor B; Mathieu-Dramard M; Plessis G; George AM; Taylor J; Aftimos S; Wiemer-Kruel A; Kohlhase J; Annerén G; Firth H; Simonic I; Vermeesch J; Thuresson AC; Copin H; Love DR; Andrieux J

European Journal of Medical Genetics. 56:163-170

Palomares M; Delicado A; Mansilla E; de Torres ML; Vallespín E; Fernandez L; Martinez-Glez V; García-Miñaur S; Nevado J; Simarro FS; Ruiz-Perez VL; Lynch SA; Sharkey FH; Thuresson AC; Annerén G; Belligni EF; Martínez-Fernández ML; Bermejo E; Nowakowska B; Kutkowska-Kazmierczak A; Bocian E; Obersztyn E; Martínez-Frías ML; Hennekam RC; Lapunzina P

The American Journal of Human Genetics. 89:295-301

Zambrano RM; Wohler E; Annerén G; Thuresson AC; Cutting GR; Batista DA

European Journal of Medical Genetics. 54:189-193

Schuster J; Sundblom J; Thuresson AC; Hassin-Baer S; Klopstock T; Dichgans M; Cohen OS; Raininko R; Melberg A; Dahl N

neurogenetics. 12:65-72

Schoumans, J; Wincent, J; Barbaro, M; Djureinovic, T; Maguire, P; Forsberg, L; Staaf, J; Thuresson, AC; Borg, A; Nordgren, A

EUROPEAN JOURNAL OF HUMAN GENETICS. 15(2):143-149

Nyström AM; Ekvall S; Thuresson AC; Denayer E; Legius E; Kamali-Moghaddam M; Westermark B; Annerén G; Bondeson ML

European Journal of Medical Genetics. 53:117-121

Wentzel C; Lynch SA; Stattin EL; Sharkey FH; Annerén G; Thuresson AC

Molecular Syndromology. 1:75-81

Thuresson, AC.; Van Buggenhout, G.; Sheth, F.; Kamate, M.; Andrieux, J.; Clayton Smith, J.; Soussi Zander, C.

Clinical Genetics. Jan 01, 2017 91(1):106-110

Zhao JJ; Halvardson J; Knaus A; Georgii-Hemming P; Baeck P; Krawitz PM; Thuresson AC; Feuk L

Hum Mutat
Human Mutation

Michael Bergqvist; Igor Bondarenko; Marcus Thuresson; Maria Klockare; Johan Harmenberg

Journal of Clinical Oncology. 32:8091-8091

Thuresson AC; Department of Immunology, Genetics and Pathology, Science for Life Laboratory Uppsala, Uppsala University, Uppsala, Sweden.; Brazina J; Genome Damage and Stability Centre, University of Sussex, Brighton, UK.; Akram T; Department of Immunology, Genetics and Pathology, Science for Life Laboratory Uppsala, Uppsala University, Uppsala, Sweden.; Albrecht J; Department of Pediatrics, Falun Hospital, Falun, Sweden.; Dahl N; Department of Immunology, Genetics and Pathology, Science for Life Laboratory Uppsala, Uppsala University, Uppsala, Sweden.; Soussi Zander C; Department of Immunology, Genetics and Pathology, Science for Life Laboratory Uppsala, Uppsala University, Uppsala, Sweden.; Caldecott KW; Genome Damage and Stability Centre, University of Sussex, Brighton, UK.

Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE

Thuresson AC; Department of Immunology, Genetics and Pathology, Science for Life Laboratory Uppsala, Uppsala University, Uppsala, Sweden.; Croft B; Hudson Institute of Medical Research, Monash Medical Centre, Melbourne, Australia.; Department of Molecular and Translational Science, Monash University, Melbourne, Australia.; Hailer YD; Section of Orthopaedics, Department of Surgical Sciences, Uppsala University, Sweden.; Liminga G; Department of Women and Children's Health, Paediatric Neurology, Uppsala University, Uppsala, Sweden.; Arvidsson CG; Department of Paediatrics, Västmanland's Hospital, Västerås, Sweden.; Harley VR; Hudson Institute of Medical Research, Monash Medical Centre, Melbourne, Australia.; Stattin EL; Department of Immunology, Genetics and Pathology, Science for Life Laboratory Uppsala, Uppsala University, Uppsala, Sweden.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE