학술논문
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'학술논문'
에서 검색결과 133건 | 목록
1~20
Academic Journal
Lauerova, Barbora ; Mazanec, Radim ; Eggerman, Katja ; Safka Brozkova, Dana ; Lischka, Annette ; Seeman, Pavel ; Mikula, Mikulas ; Lassuthova, Petra
In European Journal of Medical Genetics December 2025 78
Academic Journal
Uhrova Meszarosova A; Neurogenetic Laboratory, Department of Paediatric Neurology, Second Faculty of Medicine Charles University and University Hospital Motol, Prague, Czechia.; Galiart E; Neuromuscular Center Zurich and Department of Paediatric Neurology, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.; Lassuthova P; Neurogenetic Laboratory, Department of Paediatric Neurology, Second Faculty of Medicine Charles University and University Hospital Motol, Prague, Czechia.; Kolokotronis K; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland.; Seidl B; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland.; Musilova A; Neurogenetic Laboratory, Department of Paediatric Neurology, Second Faculty of Medicine Charles University and University Hospital Motol, Prague, Czechia.; Peckova A; Department of Medical Genetics, Masaryk Hospital, Ústí nad Labem, Czechia.; Takacsova A; Department of Medical Genetics and Genomics, Faculty Hospital, Brno, Czechia.; Vyhnalkova E; Department of Biology and Medical Genetics, Second Faculty of Medicine Charles University and University Hospital Motol, Prague, Czechia.; Grecmalova D; Institute of Molecular and Clinical Pathology and Medical Genetics, University Hospital Ostrava and Institute of Laboratory Medicine, Medical Faculty, Ostrava, Czechia.; Vlckova E; Department of Neurology, Masaryk University and University Hospital Brno, Brno, Czechia.; Skutilova V; Department of Molecular Biology, Faculty Hospital Hradec Kralove, Hradec Kralove, Czechia.; Steindl K; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland.; Rauch A; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland.; Stettner GM; Neuromuscular Center Zurich and Department of Paediatric Neurology, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.; Safka Brozkova D; Neurogenetic Laboratory, Department of Paediatric Neurology, Second Faculty of Medicine Charles University and University Hospital Motol, Prague, Czechia.
Publisher: Frontiers Media S.A Country of Publication: Switzerland NLM ID: 101648047 Publication Model: eCollection Cited Medium: Print ISSN: 2296-858X (Print) Linking ISSN: 2296858X NLM ISO Abbreviation: Front Med (Lausanne) Subsets: PubMed not MEDLINE
Academic Journal
Safka Brozkova D; Neurogenetic Laboratory, Department of Paediatric Neurology, Second Faculty of Medicine, Charles University, Motol and Homolka University Hospital, Prague, Czechia.; Paulasova Schwabova J; Center for Hereditary Ataxias, Department of Neurology, Second Faculty of Medicine, Charles University, Motol and Homolka University Hospital, Prague, Czechia.; Center for Hereditary Ataxias, Department of Paediatric Neurology, Second Faculty of Medicine, Charles University, Motol and Homolka University Hospital, Prague, Czechia.; Vyhnalkova E; Center for Hereditary Ataxias, Department of Neurology, Second Faculty of Medicine, Charles University, Motol and Homolka University Hospital, Prague, Czechia.; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles Univesity, Motol and Homolka University Hospital, Prague, Czechia.; Lassuthova P; Neurogenetic Laboratory, Department of Paediatric Neurology, Second Faculty of Medicine, Charles University, Motol and Homolka University Hospital, Prague, Czechia.; Musilova A; Neurogenetic Laboratory, Department of Paediatric Neurology, Second Faculty of Medicine, Charles University, Motol and Homolka University Hospital, Prague, Czechia.; Novotna L; Center for Hereditary Ataxias, Department of Paediatric Neurology, Second Faculty of Medicine, Charles University, Motol and Homolka University Hospital, Prague, Czechia.; Vasova J; Neurogenetic Laboratory, Department of Paediatric Neurology, Second Faculty of Medicine, Charles University, Motol and Homolka University Hospital, Prague, Czechia.; Uhrova Meszarosova A; Neurogenetic Laboratory, Department of Paediatric Neurology, Second Faculty of Medicine, Charles University, Motol and Homolka University Hospital, Prague, Czechia. anna.meszarosova@lfmotol.cuni.cz.
Publisher: BioMed Central Country of Publication: England NLM ID: 101202210 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1479-7364 (Electronic) Linking ISSN: 14739542 NLM ISO Abbreviation: Hum Genomics Subsets: MEDLINE
Academic Journal
D. Safka Brozkova; T. Stojkovic; J. Haberlová; R. Mazanec; R. Windhager; P. Fernandes Rosenegger; S. Hacker; S. Züchner; A. Kochański; S. Leonard‐Louis; B. Francou; P. Latour; J. Senderek; P. Seeman; M. Auer‐Grumbach
European Journal of Neurology. 27:2568-2574
Academic Journal
Meszarosova, Anna Uhrova ; Seeman, Pavel ; Jencik, Jan ; Drabova, Jana ; Cibochova, Renata ; Stellmachova, Julia ; Safka Brozkova, Dana
In Neuroscience Letters 16 March 2020 721
Academic Journal
Musilova A; Neurogenetic Laboratory, Department of Paediatric Neurology, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czechia; and.; Lassuthova P; Neurogenetic Laboratory, Department of Paediatric Neurology, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czechia; and.; Uhrova Meszarosova A; Neurogenetic Laboratory, Department of Paediatric Neurology, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czechia; and.; Straka B; Neurogenetic Laboratory, Department of Paediatric Neurology, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czechia; and.; Krejcikova J; Neurogenetic Laboratory, Department of Paediatric Neurology, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czechia; and.; Berounska A; Neurogenetic Laboratory, Department of Paediatric Neurology, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czechia; and.; Vlckova M; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czechia.; Musova Z; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czechia.; Safka Brozkova D; Neurogenetic Laboratory, Department of Paediatric Neurology, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czechia; and.
Publisher: Published for the American Academy of Neurology by Wolters Kluwer Country of Publication: United States NLM ID: 101671068 Publication Model: eCollection Cited Medium: Print ISSN: 2376-7839 (Print) Linking ISSN: 23767839 NLM ISO Abbreviation: Neurol Genet Subsets: PubMed not MEDLINE
Academic Journal
Clinical Genetics. 82:579-582
Academic Journal
Clinical Genetics. 90:161-165
Academic Journal
P, Laššuthová; D Šafka, Brožková; M, Krůtová; J, Neupauerová; J, Haberlová; R, Mazanec; N, Dvořáčková; Z, Goldenberg; P, Seeman
neurogenetics. 16:43-54
Academic Journal
neurogenetics. 14:189-195
Report
Uhrova-Meszarosova A; Neurogenetic Laboratory, Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University and Motol Hospital, Prague, Czech Republic.; Vlckova M; Department of Medical Genetics, 2nd Faculty of Medicine, Charles University and Motol Hospital, Prague, Czech Republic.; Rennerova L; Child Neurology, Ústí nad Labem, Czech Republic.; Haberlova J; Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University and Motol Hospital, Prague, Czech Republic.; Zamecnik J; Department of Pathology and Molecular Medicine 2nd Faculty of Medicine, Charles University and Motol Hospital, Prague, Czech Republic.; Seeman P; Neurogenetic Laboratory, Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University and Motol Hospital, Prague, Czech Republic.; Department of Medical Genetics, Masaryk Hospital, Ústí nad Labem, Czech Republic.; Safka-Brozkova D; Neurogenetic Laboratory, Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University and Motol Hospital, Prague, Czech Republic.
Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE
Academic Journal
In Neuromuscular Disorders August 2012 22(8):742-746
Academic Journal
Safka Brozkova D; Neurogenetic laboratory, Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University and University Hospital Motol, 15006 Prague, Czech Republic.; Uhrova Meszarosova A; Neurogenetic laboratory, Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University and University Hospital Motol, 15006 Prague, Czech Republic.; Lassuthova P; Neurogenetic laboratory, Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University and University Hospital Motol, 15006 Prague, Czech Republic.; Varga L; Department of Otorhinolaryngology-Head and Neck Surgery, Faculty of Medicine and University Hospital, Comenius University, 85107 Bratislava, Slovakia.; Diabgene Laboratory, Institute of Experimental Endocrinology, Biomedical Research Center, Slovak Academy of Sciences, 84505 Bratislava, Slovakia.; Staněk D; Neurogenetic laboratory, Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University and University Hospital Motol, 15006 Prague, Czech Republic.; Borecká S; Diabgene Laboratory, Institute of Experimental Endocrinology, Biomedical Research Center, Slovak Academy of Sciences, 84505 Bratislava, Slovakia.; Laštůvková J; Department of Medical Genetics, Masaryk Hospital in Usti nad Labem, Regional Health Corporation, 40011 Ústí nad Labem, Czech Republic.; Čejnová V; Department of Medical Genetics, Masaryk Hospital in Usti nad Labem, Regional Health Corporation, 40011 Ústí nad Labem, Czech Republic.; Rašková D; Centre for Medical Genetics and Reproductive Medicine GENNET, 17000 Prague, Czech Republic.; Lhota F; Centre for Medical Genetics and Reproductive Medicine GENNET, 17000 Prague, Czech Republic.; Gašperíková D; Diabgene Laboratory, Institute of Experimental Endocrinology, Biomedical Research Center, Slovak Academy of Sciences, 84505 Bratislava, Slovakia.; Seeman P; Neurogenetic laboratory, Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University and University Hospital Motol, 15006 Prague, Czech Republic.
Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE
Academic Journal
Clinical Genetics. Dec 01, 2012 82(6):579-582
Academic Journal
Schob C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Safka Brozkova D; Neurogenetic Laboratory, Department of Pediatric Neurology, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.; Jiang H; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.; Kim SY; Department of Genomics Medicine, Rare Disease Center, Seoul National University Hospital, Seoul, Republic of Korea.; Batzir NA; Pediatric Genetics Clinic, Schneider Children's Medical Center of Israel, Petah-Tikva, Israel.; Orenstein N; Pediatric Genetics Clinic, Schneider Children's Medical Center of Israel, Petah-Tikva, Israel.; Bierhals T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Johannsen J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Uhrova Meszarosova A; Neurogenetic Laboratory, Department of Pediatric Neurology, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.; Chae JH; Department of Genomics Medicine, Rare Disease Center, Seoul National University Hospital, Seoul, Republic of Korea.; Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea.; Seeman P; Neurogenetic Laboratory, Department of Pediatric Neurology, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.; Woidy M; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Fang F; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.; Kubisch C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Kindler S; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Denecke J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol Subsets: MEDLINE
Academic Journal
Neuromuscular Disorders. 24(9-10):805-806
Academic Journal
Safka Brozkova D; DNA Laboratory, Department of Paediatric Neurology, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.; Poisson Marková S; DNA Laboratory, Department of Paediatric Neurology, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.; Mészárosová AU; DNA Laboratory, Department of Paediatric Neurology, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.; Jenčík J; DNA Laboratory, Department of Paediatric Neurology, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.; Čejnová V; Department of Medical Genetics, Masaryk Hospital in Usti nad Labem, Regional Health Corporation, Usti nad Labem, Czech Republic.; Čada Z; Department of Otorhinolaryngology and Head and Neck Surgery, First Faculty of Medicine, Charles University, Motol University Hospital, Prague, Czech Republic.; Laštůvková J; Department of Medical Genetics, Masaryk Hospital in Usti nad Labem, Regional Health Corporation, Usti nad Labem, Czech Republic.; Rašková D; Centre for Medical Genetics and Reproductive Medicine Gennet, Prague 7, Czech Republic.; Seeman P; DNA Laboratory, Department of Paediatric Neurology, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.
Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE
Academic Journal
Safka Brozkova D; DNA laboratory, Department of Paediatric Neurology, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic. dana.brozkova@lfmotol.cuni.cz.; Varga L; Department of Otorhinolaryngology - Head and Neck Surgery, Faculty of Medicine and University Hospital, Comenius University, Bratislava, Slovakia.; Diabgene Laboratory, Institute of Experimental Endocrinology, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia.; Uhrova Meszarosova A; DNA laboratory, Department of Paediatric Neurology, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.; Slobodova Z; Department of Otorhinolaryngology - Head and Neck Surgery, Faculty of Medicine and University Hospital, Comenius University, Bratislava, Slovakia.; Diabgene Laboratory, Institute of Experimental Endocrinology, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia.; Skopkova M; Diabgene Laboratory, Institute of Experimental Endocrinology, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia.; 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.; Ficek A; Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Bratislava, Slovakia.; Jencik J; DNA laboratory, Department of Paediatric Neurology, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.; Lastuvkova J; Department of Medical Genetics, Masaryk Hospital in Usti nad Labem, Regional Health Corporation, Usti nad Labem, Czech Republic.; Gasperikova D; Diabgene Laboratory, Institute of Experimental Endocrinology, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia.; Seeman P; DNA laboratory, Department of Paediatric Neurology, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.
Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE
Academic Journal
Uhrova Meszarosova, Anna ; Safka Brozkova, Dana ; Vyhnalek, Martin ; Mazanec, Radim ; Lastuvkova, Jana ; Trkova, Marie ; Bittoova, Martina ; Soldatova, Inna ; Seeman, Pavel
In Journal of Clinical Neuroscience January 2019 59:337-339
Academic Journal
Megan Weber; Hong Yuan Hsin; Ersan Kalay; Dana Šafka Brožková; Takehiko Shimizu; Merve Bayram; Kathleen Deeley; Érika Calvano Küchler; Jessalyn Forella; Timothy D. Ruff; Vanessa M. Trombetta; Regina C. Sencak; Michael Hummel; Jessica Briseño-Ruiz; Shankar Revu; José Mauro Granjeiro; Leonardo Santos Antunes; Lívia Azeredo Alves Antunes; Fernanda Volpe de Abreu; Marcelo C. Costa; Patrícia Nivoloni Tannure; Mine Koruyucu; Aslı Patir; Fernando A. Poletta; Juan C. Mereb; Eduardo E. Castilla; Iêda M. Orioli; Mary L. Marazita; Hongjiao Ouyang; Thottala Jayaraman; Figen Seymen; Alexandre R. Vieira
BMC Med Genet
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
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[검색어] Brozkova, Safka D.
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