Zobrazeno 1 - 10
of 288
pro vyhledávání: '"Horemuzova, E"'
Autor:
Jacob P; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Lindelöf H; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Rustad CF; Department of Medial Genetics, Oslo University Hospital, Oslo, Norway., Sutton VR; Department of Molecular & Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, USA., Moosa S; Division of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University and Medical Genetics, Tygerberg Hospital, Cape Town, South Africa., Udupa P; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Hammarsjö A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Bhavani GS; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Batkovskyte D; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Tveten K; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway., Dalal A; Diagnostics Division, Centre for DNA Fingerprinting & Diagnostics, Hyderabad, India., Horemuzova E; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Nordgren A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, 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., Tham E; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Shah H; Department of Pediatric Orthopedics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Merckoll E; Department of Radiology, Oslo University Hospital, Oslo, Norway., Orellana L; Protein Dynamics and Mutation lab, Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden., Nishimura G; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Radiology, Musashino-Yowakai Hospital, Tokyo, Japan., Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India. girish.katta@manipal.edu., Grigelioniene G; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden. giedre.grigelioniene@ki.se.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden. giedre.grigelioniene@ki.se.
Publikováno v:
NPJ genomic medicine [NPJ Genom Med] 2023 Nov 22; Vol. 8 (1), pp. 39. Date of Electronic Publication: 2023 Nov 22.
Publikováno v:
Acta Paediatrica. Feb2013, Vol. 102 Issue 2, p206-208. 3p.
Autor:
Lindelöf H; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Horemuzova E; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden., Voss U; Department of Pediatric Radiology, Karolinska University Hospital, Stockholm, Sweden., Nordgren A; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Grigelioniene G; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Hammarsjö A; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Publikováno v:
Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2022 Jun 13; Vol. 13, pp. 862908. Date of Electronic Publication: 2022 Jun 13 (Print Publication: 2022).
Autor:
Hammarsjö A; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, and Department of Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden. anna.hammarsjo@ki.se., Pettersson M; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, and Department of Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden., Chitayat D; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, and Mt. Sinai Hospital, Toronto, ON, Canada.; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada., Handa A; Department of Radiology, University of Iowa Hospitals and Clinics, Iowa City, IA, USA., Anderlid BM; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, and Department of Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden., Bartocci M; Department of Women's and Children's Health, Neonatology, Karolinska Institutet, Stockholm, Sweden., Basel D; Division of Medical Genetics, Medical College of Wisconsin, Milwaukee, WI, USA., Batkovskyte D; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden., Beleza-Meireles A; Department of Clinical Genetics, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK., Conner P; Department of Women's and Children's Health, Karolinska Institutet and Center for Fetal Medicine, Karolinska University Hospital, Stockholm, Sweden., Eisfeldt J; Science for Life Laboratory, Department of Molecular Medicine and Surgery, Karolinska Institutet, and Department of Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden., Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India., Chung BH; Department of Pediatrics and Adolescent Medicine, The University of Hong Kong and Shenzhen Hospital, Futian District, Shenzhen, China.; Department of Pediatrics and Adolescent Medicine, Queen Mary Hospital, The University of Hong Kong, Hong Kong, China., Horemuzova E; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Women's and Children's Health, Karolinska Institutet and Paediatric Endocrinology Unit, Karolinska University Hospital, Stockholm, Sweden., Hyodo H; Department of Obstetrics and Gynecology, Tokyo Metropolitan Bokutoh Hospital, Kotobashi, Sumida-ku, Tokyo, Japan., Korņejeva L; Department of Prenatal Diagnostics, Riga Maternity Hospital, Riga, Latvia., Lagerstedt-Robinson K; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, and Department of Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden., Lin AE; Medical Genetics, MassGeneral Hospital for Children, Boston, MA, USA., Magnusson M; Department of Molecular Medicine and Surgery, Karolinska Institutet, and Centre for Inherited Metabolic Diseases, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden.; Science for Life Laboratory, School of Engineering Sciences in Chemistry, Biotechnology and Health, KTH Royal Institute of Technology, Stockholm, Sweden., Moosa S; Medical Genetics, Tygerberg Hospital and Division of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University, Tygerberg, South Africa., Nayak SS; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India., Nilsson D; Science for Life Laboratory, Department of Molecular Medicine and Surgery, Karolinska Institutet, and Department of Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden., Ohashi H; Division of Medical Genetics, Saitama Children's Medical Center, Saitama, Japan., Ohashi-Fukuda N; Department of Obstetrics and Gynecology, Tokyo Metropolitan Bokutoh Hospital, Kotobashi, Sumida-ku, Tokyo, Japan., Stranneheim H; Department of Molecular Medicine and Surgery, Karolinska Institutet, and Centre for Inherited Metabolic Diseases, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden.; Department of Microbiology, Tumor and Cell biology, Science for Life Laboratory, Karolinska Institutet, Stockholm, Sweden., Taylan F; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, and Department of Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden., Traberg R; Department of Genetics and Molecular Medicine, Lithuanian University of Health Sciences, Kaunas, Lithuania., Voss U; Department of Pediatric Radiology, Karolinska University Hospital, Stockholm, Sweden., Wirta V; Science for Life Laboratory, School of Engineering Sciences in Chemistry, Biotechnology and Health, KTH Royal Institute of Technology, Stockholm, Sweden.; Department of Microbiology, Tumor and Cell biology, Science for Life Laboratory, Karolinska Institutet, Stockholm, Sweden., Nordgren A; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, and Department of Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden., Nishimura G; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Pediatric Imaging, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan., Lindstrand A; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, and Department of Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden., Grigelioniene G; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, and Department of Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden.
Publikováno v:
Journal of human genetics [J Hum Genet] 2021 Oct; Vol. 66 (10), pp. 995-1008. Date of Electronic Publication: 2021 Apr 20.
Autor:
Gkourogianni A; Division of Pediatric Endocrinology, Department of Women's and Children's Health, Karolinska Institutet and University Hospital, Stockholm, Sweden.; Center for Molecular Medicine, Karolinska Institutet and University Hospital, Stockholm, Sweden., Andrade AC; Division of Pediatric Endocrinology, Department of Women's and Children's Health, Karolinska Institutet and University Hospital, Stockholm, Sweden.; Center for Molecular Medicine, Karolinska Institutet and University Hospital, Stockholm, Sweden., Jonsson BA; Department of Medical Biosciences, Medical and Clinical Genetics, Umeå University, Umeå, Sweden., Segerlund E; Department of Pediatrics, Sunderby Hospital, Sunderby, Sweden., Werner-Sperker A; Department of Pediatrics, Sunderby Hospital, Sunderby, Sweden., Horemuzova E; Division of Pediatric Endocrinology, Department of Women's and Children's Health, Karolinska Institutet and University Hospital, Stockholm, Sweden., Dahlgren J; Göteborg Pediatric Growth Research Center, Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Göteborg, Sweden., Burstedt M; Department of Medical Biosciences, Medical and Clinical Genetics, Umeå University, Umeå, Sweden., Nilsson O; Division of Pediatric Endocrinology, Department of Women's and Children's Health, Karolinska Institutet and University Hospital, Stockholm, Sweden.; Center for Molecular Medicine, Karolinska Institutet and University Hospital, Stockholm, Sweden.; School of Medical Sciences, Örebro University and University Hospital, Örebro, Sweden.
Publikováno v:
Acta paediatrica (Oslo, Norway : 1992) [Acta Paediatr] 2020 Oct; Vol. 109 (10), pp. 2067-2074. Date of Electronic Publication: 2020 Mar 06.
Autor:
Grigelioniene G; Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Suzuki HI; David H. Koch Institute for Integrative Cancer Research, Massachusetts Institute of Technology, Cambridge, MA, USA., Taylan F; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden., Mirzamohammadi F; Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA., Borochowitz ZU; Rappaport Faculty of Medicine, Technion-Israeli Institute of Technology, Medical Genetics Clinics, Assuta Medical Center, Haifa, Israel., Ayturk UM; Orthopaedic Research Labs, Department of Orthopaedic Surgery, Boston Children's Hospital, Boston, MA, USA., Tzur S; Laboratory of Molecular Medicine, Rambam Health Care Campus, Haifa, Israel.; Genomic Research Department, Emedgene Technologies, Tel Aviv, Israel., Horemuzova E; Department for Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.; Pediatric Endocrinology Unit, Karolinska University Hospital, Stockholm, Sweden., Lindstrand A; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Weis MA; Department of Orthopedics and Sports Medicine, University of Washington, Seattle, WA, USA., Grigelionis G; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden., Hammarsjö A; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Marsk E; Department of Otorhinolaryngology, Karolinska University Hospital, Stockholm, Sweden., Nordgren A; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Nordenskjöld M; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Eyre DR; Department of Orthopedics and Sports Medicine, University of Washington, Seattle, WA, USA., Warman ML; Orthopaedic Research Labs, Department of Orthopaedic Surgery, Boston Children's Hospital, Boston, MA, USA., Nishimura G; Center for Intractable Diseases, Saitama Medical University Hospital, Saitama, Japan., Sharp PA; David H. Koch Institute for Integrative Cancer Research, Massachusetts Institute of Technology, Cambridge, MA, USA.; Department of Biology, Massachusetts Institute of Technology, Cambridge, MA, USA., Kobayashi T; Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA. tkobayashi1@mgh.harvard.edu.
Publikováno v:
Nature medicine [Nat Med] 2019 Apr; Vol. 25 (4), pp. 583-590. Date of Electronic Publication: 2019 Feb 25.
Akademický článek
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Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias.
Autor:
Pettersson M; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet and Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden., Vaz R; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden., Hammarsjö A; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet and Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden., Eisfeldt J; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Science for Life Laboratory, Karolinska Institutet Science Park, Solna, Sweden., Carvalho CMB; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Hofmeister W; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden., Tham E; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet and Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden., Horemuzova E; Department of Women's and Children's Health, Karolinska Institutet and Paediatric Endocrinology Unit, Karolinska University Hospital, Stockholm, Sweden., Voss U; Department of Pediatric Radiology, Karolinska University Hospital, Stockholm, Sweden., Nishimura G; Intractable Disease Center, Saitama University Hospital, Saitama, Japan., Klintberg B; Department of Pediatrics, Visby Hospital, Visby, Sweden., Nordgren A; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet and Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden., Nilsson D; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet and Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden.; Science for Life Laboratory, Karolinska Institutet Science Park, Solna, Sweden., Grigelioniene G; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet and Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden., Lindstrand A; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet and Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden.
Publikováno v:
Human mutation [Hum Mutat] 2018 Oct; Vol. 39 (10), pp. 1456-1467. Date of Electronic Publication: 2018 Aug 22.
Autor:
Leal GF; Centro Integrado de Saúde Amaury de Medeiros, Universidade de Pernambuco, Recife, Brazil.; Instituto de Medicina Integral Prof Fernando Figueira, Recife, Brazil., Nishimura G; Intractable Disease Center, Saitama Medical University Hospital, Saitama, Japan., Voss U; Department of Pediatric Radiology, Karolinska University Hospital, Stockholm, Sweden., Bertola DR; Unidade de Genética Clínica, Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.; Instituto de Biociências da Universidade de São Paulo, São Paulo, Brazil., Åström E; Pediatric Neurology and Musculoskeletal Disorders and Home Care, Astrid Lindgren Children's Hospital at Karolinska University Hospital, Stockholm, Sweden.; Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden., Svensson J; Department of Paediatrics, Skåne University Hospital, Lund University, Lund, Sweden., Yamamoto GL; Unidade de Genética Clínica, Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.; Instituto de Biociências da Universidade de São Paulo, São Paulo, Brazil., Hammarsjö A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital Stockholm, Stockholm, Sweden., Horemuzova E; Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.; Paediatric Endocrinology Unit, Karolinska University Hospital, Stockholm, Sweden., Papadiogannakis N; Department of Pathology, Karolinska University Hospital and Karolinska Institutet, Stockholm, Sweden., Iwarsson E; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital Stockholm, Stockholm, Sweden., Grigelioniene G; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital Stockholm, Stockholm, Sweden., Tham E; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital Stockholm, Stockholm, Sweden.
Publikováno v:
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research [J Bone Miner Res] 2018 Apr; Vol. 33 (4), pp. 753-760. Date of Electronic Publication: 2018 Jan 04.
Autor:
Utriainen P; Children's Hospital, Helsinki University Central Hospital, Helsinki, Finland.; Children's Hospital, University of Helsinki, Helsinki, Finland.; Folkhälsan Research Center, Helsinki, Finland.; Department of Women's and Children's Health, Karolinska Institute, Stockholm, Sweden., Valta H; Children's Hospital, Helsinki University Central Hospital, Helsinki, Finland.; Children's Hospital, University of Helsinki, Helsinki, Finland., Björnsdottir S; Department of Molecular Medicine and Surgery, Karolinska Institute, Stockholm, Sweden., Mäkitie O; Children's Hospital, Helsinki University Central Hospital, Helsinki, Finland.; Children's Hospital, University of Helsinki, Helsinki, Finland.; Folkhälsan Research Center, Helsinki, Finland.; Department of Molecular Medicine and Surgery, Karolinska Institute, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Horemuzova E; Department of Women's and Children's Health, Karolinska Institute, Stockholm, Sweden.; Pediatric Endocrinology Unit, Astrid Lindgren's Children Hospital, Karolinska University Hospital, Stockholm, Sweden.
Publikováno v:
Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2018 Mar 15; Vol. 9, pp. 96. Date of Electronic Publication: 2018 Mar 15 (Print Publication: 2018).