부산대학교 도서관

Sidhu, Rohini; Kell, Pamela; Dietzen, Dennis J; Farhat, Nicole Y; Do, An Ngoc Dang; Porter, Forbes D; Berry-Kravis, Elizabeth; Reunert, Janine; Marquardt, Thorsten; Giugliani, Roberto; Lourenço, Charles M; Wang, Raymond Y; Movsesyan, Nina; Plummer, Ellen; Schaffer, Jean E; Ory, Daniel S; Jiang, Xuntian

Molecular Genetics and Metabolism. 131(4)

Sidhu, Rohini; Kell, Pamela; Dietzen, Dennis J; Farhat, Nicole Y; Do, An Ngoc Dang; Porter, Forbes D; Berry-Kravis, Elizabeth; Vite, Charles H; Reunert, Janine; Marquardt, Thorsten; Giugliani, Roberto; Lourenço, Charles M; Bodamer, Olaf; Wang, Raymond Y; Plummer, Ellen; Schaffer, Jean E; Ory, Daniel S; Jiang, Xuntian

Molecular Genetics and Metabolism. 129(4)

Rujano, Maria A; Serio, Magda Cannata; Panasyuk, Ganna; Péanne, Romain; Reunert, Janine; Rymen, Daisy; Hauser, Virginie; Park, Julien H; Freisinger, Peter; Souche, Erika; Guida, Maria Clara; Maier, Esther M; Wada, Yoshinao; Jäger, Stefanie; Krogan, Nevan J; Kretz, Oliver; Nobre, Susana; Garcia, Paula; Quelhas, Dulce; Bird, Thomas D; Raskind, Wendy H; Schwake, Michael; Duvet, Sandrine; Foulquier, Francois; Matthijs, Gert; Marquardt, Thorsten; Simons, Matias

Journal of Experimental Medicine. 214(12)

Penkl M; Klinik für Kinder- und Jugendmedizin, Universitätsklinikum Münster, Albert-Schweizer-Campus 1, 48149 Muenster, Germany.; Mayr JA; Universitätsklinik für Kinder- und Jugendheilkunde, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Müllner Hauptstraße 48, 5020 Salzburg, Austria.; Feichtinger RG; Universitätsklinik für Kinder- und Jugendheilkunde, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Müllner Hauptstraße 48, 5020 Salzburg, Austria.; Reilmann R; George-Huntington-Institut, Wilhelm-Schickard-Straße 15, 48149 Muenster, Germany.; Debus O; Clemenshospital Münster, Klinik für Kinder- und Jugendmedizin, Düesbergweg 124, 48153 Muenster, Germany.; Fobker M; Zentrale Einrichtung UKM Labor, Universitätsklinikum Münster, Albert-Schweitzer-Campus 1, 48149 Muenster, Germany.; Penkl A; Klinik für Kinder- und Jugendmedizin, Universitätsklinikum Münster, Albert-Schweizer-Campus 1, 48149 Muenster, Germany.; Reunert J; Klinik für Kinder- und Jugendmedizin, Universitätsklinikum Münster, Albert-Schweizer-Campus 1, 48149 Muenster, Germany.; Rust S; Klinik für Kinder- und Jugendmedizin, Universitätsklinikum Münster, Albert-Schweizer-Campus 1, 48149 Muenster, Germany.; Marquardt T; Klinik für Kinder- und Jugendmedizin, Universitätsklinikum Münster, Albert-Schweizer-Campus 1, 48149 Muenster, Germany.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101578790 Publication Model: Electronic Cited Medium: Print ISSN: 2218-1989 (Print) Linking ISSN: 22181989 NLM ISO Abbreviation: Metabolites Subsets: PubMed not MEDLINE

Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.; van de Locht M; Department of Physiology, Amsterdam UMC (location VUmc), Amsterdam, 1081 HV Netherlands.; Ronchi D; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, 20135, Italy.; Reunert J; Department of General Pediatrics, University of Münster, Münster, 48149, Germany.; McLean CA; Department of Anatomical Pathology, Alfred Hospital, Melbourne, Victoria, 3004, Australia.; Faculty of Medicine, Nursing, and Health Sciences, Monash University, Melbourne, Victoria, 3168, Australia.; Zaki M; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12622, Egypt.; Orbach R; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.; de Winter JM; Department of Physiology, Amsterdam UMC (location VUmc), Amsterdam, 1081 HV Netherlands.; Conijn S; Department of Physiology, Amsterdam UMC (location VUmc), Amsterdam, 1081 HV Netherlands.; Hoomoedt D; Department of Physiology, Amsterdam UMC (location VUmc), Amsterdam, 1081 HV Netherlands.; Neto OLA; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.; Magri F; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, 20122, Italy.; Viaene AN; Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, 19104 PA, USA.; Foley AR; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.; Gorokhova S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.; Department of Medical Genetics, Timone Children's Hospital, APHM, Marseille, 13005, France.; INSERM, U1251-MMG, Aix-Marseille Université, Marseille, 13009, France.; Bolduc V; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.; Hu Y; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.; Acquaye N; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.; Napoli L; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Disease Unit, Milan, 20122, Italy.; Park JH; Department of General Pediatrics, University Hospital Münster, Münster, 48149 Germany.; Immadisetty K; Department of Cell and Molecular Physiology, Loyola University, Chicago, IL 60153, USA.; Miles LB; School of Biological Sciences, Monash University, Melbourne, Victoria, 3800, Australia.; Essawi M; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12622, Egypt.; McModie S; Department of Neurology, Alfred Health, Melbourne, Victoria, 3004, Australia.; Ferreira LF; Department of Physiology, Amsterdam UMC (location VUmc), Amsterdam, 1081 HV Netherlands.; Department of Orthopaedic Surgery, Duke University School of Medicine, Durham, NC 27710, USA.; Zanotti S; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Disease Unit, Milan, 20122, Italy.; Neuhaus SB; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.; Medne L; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; ElBagoury N; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12622, Egypt.; Johnson KR; Bioinformatics Core, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.; Zhang Y; Bioinformatics Core, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.; Laing NG; Neurogenetics Unit, Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Western Australia, 6009, Australia.; Centre for Medical Research University of Western Australia, Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia, 6009, Australia.; Davis MR; Neurogenetics Unit, Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Western Australia, 6009, Australia.; Bryson-Richardson RJ; School of Biological Sciences, Monash University, Melbourne, Victoria, 3800, Australia.; Hwee DT; Research and Development, Cytokinetics Inc., South San Francisco, CA 94080, USA.; Hartman JJ; Research and Development, Cytokinetics Inc., South San Francisco, CA 94080, USA.; Malik FI; Research and Development, Cytokinetics Inc., South San Francisco, CA 94080, USA.; Kekenes-Huskey PM; Department of Cell and Molecular Physiology, Loyola University, Chicago, IL 60153, USA.; Comi GP; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, 20135, Italy.; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Disease Unit, Milan, 20122, Italy.; Sharaf-Eldin W; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12622, Egypt.; Marquardt T; Department of General Pediatrics, University of Münster, Münster, 48149, Germany.; Ravenscroft G; Centre for Medical Research University of Western Australia, Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia, 6009, Australia.; Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.; Ottenheijm CAC; Department of Physiology, Amsterdam UMC (location VUmc), Amsterdam, 1081 HV Netherlands.

Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101505086 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1946-6242 (Electronic) Linking ISSN: 19466234 NLM ISO Abbreviation: Sci Transl Med Subsets: MEDLINE

Gödiker, J.; Grüneberg, M.; DuChesne, I.; Reunert, J.; Rust, S.; Westermann, C.; Wada, Y.; Classen, G.; Langhans, C. D.; Schlingmann, K. P.; Rodenburg, R. J.; Pohlmann, R.; Marquardt, T.

Journal of Human Genetics. 63(6):707-716

Funke VLE; Department of Pediatric Hematology and Oncology, University Children's Hospital Münster, Albert-Schweitzer-Campus 1, 48149, Münster, Germany.; Sandmann S; Institute of Medical Informatics, University of Münster, 48149, Münster, Germany.; Melcher V; Department of Pediatric Hematology and Oncology, University Children's Hospital Münster, Albert-Schweitzer-Campus 1, 48149, Münster, Germany.; Seggewiss J; Institute of Human Genetics, University Hospital Münster, Münster, Germany.; Horvath J; Institute of Human Genetics, University Hospital Münster, Münster, Germany.; Jäger N; Hopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.; Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ) and German Cancer Consortium (DKTK), Heidelberg, Germany.; Kool M; Hopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.; Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ) and German Cancer Consortium (DKTK), Heidelberg, Germany.; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.; Jones DTW; Hopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.; Division of Pediatric Glioma Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.; Pfister SM; Hopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.; Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ) and German Cancer Consortium (DKTK), Heidelberg, Germany.; Department of Pediatric Oncology, Hematology and Immunology, Heidelberg University Hospital, Heidelberg, Germany.; National Center for Tumor Diseases (NCT), Heidelberg, Germany.; Milde T; Hopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.; Department of Pediatric Oncology, Hematology and Immunology, Heidelberg University Hospital, Heidelberg, Germany.; National Center for Tumor Diseases (NCT), Heidelberg, Germany.; Clinical Cooperation Unit Pediatric Oncology, German Cancer Research Center (DKFZ) and German Consortium for Translational Cancer Research (DKTK), Heidelberg, Germany.; Rutkowski S; Department of Pediatric Hematology and Oncology, University Medical Center Hamburg-Eppendorf, 20251, Hamburg, Germany.; Mynarek M; Department of Pediatric Hematology and Oncology, University Medical Center Hamburg-Eppendorf, 20251, Hamburg, Germany.; Mildred Scheel Cancer Career Center HaTriCS4, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Varghese J; Institute of Medical Informatics, University of Münster, 48149, Münster, Germany.; Sträter R; Department of Pediatric Hematology and Oncology, University Children's Hospital Münster, Albert-Schweitzer-Campus 1, 48149, Münster, Germany.; Rust S; Department of General Pediatrics, Metabolic Diseases, University Children's Hospital Münster, 48149, Münster, Germany.; Seelhöfer A; Department of General Pediatrics, Metabolic Diseases, University Children's Hospital Münster, 48149, Münster, Germany.; Reunert J; Department of General Pediatrics, Metabolic Diseases, University Children's Hospital Münster, 48149, Münster, Germany.; Fiedler B; Department of Neuropediatrics, University Children's Hospital, Münster, Germany.; Schüller U; Department of Pediatric Hematology and Oncology, University Medical Center Hamburg-Eppendorf, 20251, Hamburg, Germany.; Research Institute Children's Cancer Center, 20251, Hamburg, Germany.; Institute of Neuropathology, University Medical Center Hamburg-Eppendorf, 20251, Hamburg, Germany.; Marquardt T; Department of General Pediatrics, Metabolic Diseases, University Children's Hospital Münster, 48149, Münster, Germany.; Kerl K; Department of Pediatric Hematology and Oncology, University Children's Hospital Münster, Albert-Schweitzer-Campus 1, 48149, Münster, Germany. kornelius.kerl@ukmuenster.de.

Publisher: BioMed Central Country of Publication: England NLM ID: 101610673 Publication Model: Electronic Cited Medium: Internet ISSN: 2051-5960 (Electronic) Linking ISSN: 20515960 NLM ISO Abbreviation: Acta Neuropathol Commun Subsets: MEDLINE

Pediatrics Week. September 8, 2012, p77

Klank S; Department of Paediatrics, Metabolic Diseases, University of Münster, Albert-Schweitzer-Campus 1, 48149 Münster, Germany.; van Stein C; Department of Paediatrics, Metabolic Diseases, University of Münster, Albert-Schweitzer-Campus 1, 48149 Münster, Germany.; Grüneberg M; Department of Paediatrics, Metabolic Diseases, University of Münster, Albert-Schweitzer-Campus 1, 48149 Münster, Germany.; Ottolenghi C; UMR 1163, Université Paris Descartes, Sorbonne Paris Cité, Institut IMAGINE, 24 Boulevard du Montparnasse, 75015 Paris, France.; Biochimie Métabolomique et Protéomique, Hôpital Necker-Enfants Malades, 149 Rue de Sèvres, 75015 Paris, France.; Rauwolf KK; Department of Pediatric Hematology and Oncology, University of Münster, Albert-Schweitzer-Campus 1, 48149 Münster, Germany.; Division of Pediatric Oncology, University Children's Hospital Zürich, Steinwiesstraße 75, 8032 Zürich, Switzerland.; Grebe J; 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.; Harms E; Department of Paediatrics, Metabolic Diseases, University of Münster, Albert-Schweitzer-Campus 1, 48149 Münster, Germany.; Marquardt T; Department of Paediatrics, Metabolic Diseases, University of Münster, Albert-Schweitzer-Campus 1, 48149 Münster, Germany.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101534003 Publication Model: Electronic Cited Medium: Print ISSN: 1999-4923 (Print) Linking ISSN: 19994923 NLM ISO Abbreviation: Pharmaceutics Subsets: PubMed not MEDLINE

Dörre, K.; Olczak, M.; Wada, Y.; Sosicka, P.; Grüneberg, M.; Reunert, J.; Kurlemann, G.; Fiedler, B.; Biskup, S.; Hörtnagel, K.; Rust, S.; Marquardt, T.

Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. September 2015 38(5):931-940