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1دورية أكاديمية
المؤلفون: Anastasopoulou, S, Swann, G, Andres-Jensen, L, Attarbaschi, A, Barzilai-Birenboim, S, Erdelyi, DJ, Escherich, G, Hamadeh, L, Harila, A, Lopez-Lopez, E, McGowan, S, Moricke, A, Putti, C, Sagi, JC, Schmiegelow, K, Ullrich, NJ, van der Sluis, IM, Wahid, QUA, Winick, N, Sramkova, L, Zalcberg, Y, Zapotocka, E, Bhojwani, D, Halsey, C
المصدر: British journal of haematology.
مصطلحات موضوعية: Medicin och hälsovetenskap
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2دورية أكاديمية
المؤلفون: Sagi, JC, Gezsi, A, Egyed, B, Jakab, Z, Benedek, N, Attarbaschi, A, Kohrer, S, Sipek, J, Winkowska, L, Zaliova, M, Anastasopoulou, S, Wolthers, BO, Ranta, S, Szalai, C, Kovacs, GT, Semsei, AF, Erdelyi, DJ
المصدر: Cancers. 13(10)
مصطلحات موضوعية: Medicin och hälsovetenskap
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3دورية أكاديمية
المؤلفون: Nanetti L; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria, 11, 20133, Milan, Italy., Kearney M; Patient Advocate at the European Reference Network Representing Individuals With Ataxia, and Neurology Research Fellow at the National Ataxia Centre, Tallaght University, Dublin, Ireland., Boesch S; Center for Rare Movement Disorders, Department of Neurology, Innsbruck, Austria., Stovickova L; Centre of Hereditary Ataxias, Department of Pediatric Neurology, Second Faculty of Medicine and Motol University Hospital, Prague, Czech Republic., Ortigoza-Escobar JD; Pediatric Neurology Department, Institut de Recerca Hospital Sant Joan de Déu Barcelona, Barcelona, Spain., Macaya A; Pediatric Neurology, Vall d'Hebron Institut de Recerca, Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, and Universitat Autònoma de Barcelona, Bellaterra, Spain., Gomez-Andres D; Pediatric Neurology, Vall d'Hebron Institut de Recerca, Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, and Universitat Autònoma de Barcelona, Bellaterra, Spain., Roze E; Sorbonne University, INSERM, CNRS, Paris Brain Institute, APHP Salpêtrière Hospital, Paris, France., Molnar MJ; Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Budapest, Hungary., Wolf NI; Amsterdam Leukodystrophy Center, Department of Child Neurology, Emma's Children's Hospital, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Cellular & Molecular Mechanisms, Amsterdam, The Netherlands., Darling A; Pediatric Neurology Department, Institut de Recerca Hospital Sant Joan de Déu Barcelona, Barcelona, Spain., Vasco G; Research Unit of Neurorehabilitation, IRCCS Bambino Gesù Children's Research Hospital, Rome, Italy., Bertini E; Unit of Neuromuscular and Neurodegenerative Disease, IRCCS Bambino Gesù Children's Research Hospital, Rome, Italy., Indelicato E; Center for Rare Movement Disorders, Department of Neurology, Innsbruck, Austria., Neubauer D; UMCL, Children's Hospital Ljubljana and University of Ljubljana, Ljubljana, Slovenia., Haack TB; Institute of Medical Genetics and Applied Genomics University of Tübingen, Tübingen, Germany., Sagi JC; Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Budapest, Hungary.; Department of Paediatrics, Semmelweis University, Dept. of Genetics, Cell- and Immunobiology, Semmelweis University, Budapest, Hungary., Danti FR; Department of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Sival D; Department of Paediatric Neurology, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Zanni G; Unit of Neuromuscular and Neurodegenerative Disease, IRCCS Bambino Gesù Children's Research Hospital, Rome, Italy., Kolk A; Tartu University Hospital Children's Clinic, Department of Pediatrics and Neurology, Tartu, Estonia., Boespflug-Tanguy O; APHP, Université Paris Cité, INSERM UMR1141, Hôpital Robert Debré, Service de Neuropédiatrie, Centre de Reference LEUKOFRANCE, Paris, France., Schols L; Department of Neurology and Hertie Institute for Clinical Brain Research, University of Tübingen, and German Center for Neurodegenerative Diseases, Tübingen, Germany., van de Warrenburg B; Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Vidailhet M; Sorbonne University, INSERM, CNRS, Paris Brain Institute, APHP Salpêtrière Hospital, Paris, France., Willemsen MA; Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Buizer AI; Department of Rehabilitation Medicine, Emma Children's Hospital, Amsterdam, Vrije Universiteit, Amsterdam, Amsterdam Movement Science, Rehabilitation and Development, Amsterdam, The Netherlands., Orzes E; Osservatorio Malattie Rare - Rarelab S.R.L., Rome, Italy., Ripp S; Centre for Rare Diseases and Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany., Reinhard C; Centre for Rare Diseases and Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany., Moroni I; Department of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Mariotti C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria, 11, 20133, Milan, Italy. caterina.mariotti@istituto-besta.it.
مؤلفون مشاركون: ERN-RND Working Group for Management of Transition
المصدر: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2024 Mar; Vol. 45 (3), pp. 1007-1016. Date of Electronic Publication: 2023 Oct 19.
نوع المنشور: Journal Article
بيانات الدورية: Publisher: Springer-Verlag Italia Country of Publication: Italy NLM ID: 100959175 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1590-3478 (Electronic) Linking ISSN: 15901874 NLM ISO Abbreviation: Neurol Sci Subsets: MEDLINE
مواضيع طبية MeSH: Delivery of Health Care* , Nervous System Diseases*/diagnosis , Nervous System Diseases*/therapy, Adult ; Adolescent ; Humans ; Child ; Surveys and Questionnaires ; Europe ; Rare Diseases/diagnosis ; Rare Diseases/therapy
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4دورية أكاديمية
المؤلفون: Balicza P; Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Budapest, Hungary.; Eotvos Lorand Research Network, Multiomic Neurodegeneration Research Group, Budapest, Hungary., Gezsi A; Department of Measurement and Information Systems, Budapest University of Technology and Economics, Budapest, Hungary., Fedor M; Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Budapest, Hungary., Sagi JC; Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Budapest, Hungary., Gal A; Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Budapest, Hungary., Varga NA; Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Budapest, Hungary., Molnar MJ; Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Budapest, Hungary.; Eotvos Lorand Research Network, Multiomic Neurodegeneration Research Group, Budapest, Hungary.
المصدر: Frontiers in psychiatry [Front Psychiatry] 2024 Jan 05; Vol. 14, pp. 1301272. Date of Electronic Publication: 2024 Jan 05 (Print Publication: 2023).
نوع المنشور: Journal Article
بيانات الدورية: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101545006 Publication Model: eCollection Cited Medium: Print ISSN: 1664-0640 (Print) Linking ISSN: 16640640 NLM ISO Abbreviation: Front Psychiatry Subsets: PubMed not MEDLINE
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5دورية أكاديمية
المؤلفون: Truderung OA; Department of Genetics, Cell- and Immunobiology, Semmelweis University H-1089 Budapest, Hungary., Sagi JC; Department of Genetics, Cell- and Immunobiology, Semmelweis University H-1089 Budapest, Hungary., Semsei AF; Department of Genetics, Cell- and Immunobiology, Semmelweis University H-1089 Budapest, Hungary., Szalai C; Department of Genetics, Cell- and Immunobiology, Semmelweis University H-1089 Budapest, Hungary.; Heim Pal Children's Hospital H-1089 Budapest, Hungary.
المصدر: International journal of molecular epidemiology and genetics [Int J Mol Epidemiol Genet] 2021 Oct 15; Vol. 12 (5), pp. 71-89. Date of Electronic Publication: 2021 Oct 15 (Print Publication: 2021).
نوع المنشور: Journal Article; Review
بيانات الدورية: Publisher: e-Century Pub. Corp Country of Publication: United States NLM ID: 101525762 Publication Model: eCollection Cited Medium: Print ISSN: 1948-1756 (Print) Linking ISSN: 19481756 NLM ISO Abbreviation: Int J Mol Epidemiol Genet Subsets: PubMed not MEDLINE
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6دورية أكاديمية
المؤلفون: Richter-Pechańska P; Department of Pediatric Oncology, Hematology, and Immunology, University of Heidelberg, Heidelberg, Germany.; Molecular Medicine Partnership Unit, European Molecular Biology Laboratory, University of Heidelberg, Heidelberg, Germany., Kunz JB; Department of Pediatric Oncology, Hematology, and Immunology, University of Heidelberg, Heidelberg, Germany.; Molecular Medicine Partnership Unit, European Molecular Biology Laboratory, University of Heidelberg, Heidelberg, Germany.; German Consortium for Translational Cancer Research (DKTK), Heidelberg, Germany., Hof J; Department of Pediatric Oncology/Hematology, Charité Universitätsmedizin Berlin, Berlin, Germany., Zimmermann M; Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany., Rausch T; Molecular Medicine Partnership Unit, European Molecular Biology Laboratory, University of Heidelberg, Heidelberg, Germany.; European Molecular Biology Laboratory, University of Heidelberg, Heidelberg, Germany., Bandapalli OR; Department of Pediatric Oncology, Hematology, and Immunology, University of Heidelberg, Heidelberg, Germany.; Molecular Medicine Partnership Unit, European Molecular Biology Laboratory, University of Heidelberg, Heidelberg, Germany.; German Consortium for Translational Cancer Research (DKTK), Heidelberg, Germany., Orlova E; Department of Pediatric Oncology, Hematology, and Immunology, University of Heidelberg, Heidelberg, Germany.; Molecular Medicine Partnership Unit, European Molecular Biology Laboratory, University of Heidelberg, Heidelberg, Germany., Scapinello G; Department of Pediatric Oncology, Hematology, and Immunology, University of Heidelberg, Heidelberg, Germany.; University of Padua, Padua, Italy., Sagi JC; Department of Pediatric Oncology, Hematology, and Immunology, University of Heidelberg, Heidelberg, Germany.; Molecular Medicine Partnership Unit, European Molecular Biology Laboratory, University of Heidelberg, Heidelberg, Germany., Stanulla M; Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany., Schrappe M; Department of Pediatrics, University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany., Cario G; Department of Pediatrics, University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany., Kirschner-Schwabe R; Department of Pediatric Oncology/Hematology, Charité Universitätsmedizin Berlin, Berlin, Germany., Eckert C; Department of Pediatric Oncology/Hematology, Charité Universitätsmedizin Berlin, Berlin, Germany., Benes V; European Molecular Biology Laboratory, University of Heidelberg, Heidelberg, Germany., Korbel JO; Molecular Medicine Partnership Unit, European Molecular Biology Laboratory, University of Heidelberg, Heidelberg, Germany.; European Molecular Biology Laboratory, University of Heidelberg, Heidelberg, Germany., Muckenthaler MU; Department of Pediatric Oncology, Hematology, and Immunology, University of Heidelberg, Heidelberg, Germany.; Molecular Medicine Partnership Unit, European Molecular Biology Laboratory, University of Heidelberg, Heidelberg, Germany., Kulozik AE; Department of Pediatric Oncology, Hematology, and Immunology, University of Heidelberg, Heidelberg, Germany.; Molecular Medicine Partnership Unit, European Molecular Biology Laboratory, University of Heidelberg, Heidelberg, Germany.; German Consortium for Translational Cancer Research (DKTK), Heidelberg, Germany.
المصدر: Blood cancer journal [Blood Cancer J] 2017 Feb 03; Vol. 7 (2), pp. e523. Date of Electronic Publication: 2017 Feb 03.
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: United States NLM ID: 101568469 Publication Model: Electronic Cited Medium: Internet ISSN: 2044-5385 (Electronic) Linking ISSN: 20445385 NLM ISO Abbreviation: Blood Cancer J Subsets: MEDLINE