부산대학교 도서관

Helman, G.; Mendes, M. I.; Nicita, F.; Darbelli, L.; Sherbini, O.; Moore, T.; Derksen, A.; Amy, Pizzino; Carrozzo, R.; Torraco, A.; Catteruccia, M.; Aiello, C.; Goffrini, P.; Figuccia, S.; Smith, D. E. C.; Hadzsiev, K.; Hahn, A.; Biskup, S.; Brösse, I.; Kotzaeridou, U.; Gauck, D.; Grebe, T. A.; Elmslie, F.; Stals, K.; Gupta, R.; Bertini, E.; Thiffault, I.; Taft, R. J.; Schiffmann, R.; Brandl, U.; Haack, T. B.; Salomons, G. S.; Simons, C.; Bernard, G.; van der Knaap, M. S.; Vanderver, A.; Husain, R. A.

Helman, G, Mendes, M I, Nicita, F, Darbelli, L, Sherbini, O, Moore, T, Derksen, A, Amy Pizzino, P, Carrozzo, R, Torraco, A, Catteruccia, M, Aiello, C, Goffrini, P, Figuccia, S, Smith, D E C, Hadzsiev, K, Hahn, A, Biskup, S, Brösse, I, Kotzaeridou, U, Gauck, D, Grebe, T A, Elmslie, F, Stals, K, Gupta, R, Bertini, E, Thiffault, I, Taft, R J, Schiffmann, R, Brandl, U, Haack, T B, Salomons, G S, Simons, C, Bernard, G, van der Knaap, M S, Vanderver, A & Husain, R A 2021, 'Expanded phenotype of AARS1-related white matter disease', Genetics in Medicine, vol. 23, no. 12, pp. 2352-2359. https://doi.org/10.1038/s41436-021-01286-8

Chan, Bunyeth; Hogan, Zeb S.; Grant, Michael I.; Chhuoy, Samol; Chhut, Chheana; Heng, Kong; Brosse, Sebastien

BIOLOGICAL CONSERVATION; NOV 2024, 299 p110814 6p.

Forum Qualitative Sozialforschung / Forum: Qualitative Social Research, 24, 1

Baechli, H; Elsässer, M; Fluhr, H; Rom, J; Pöschl, J; Beedgen, B; Ronellenfitsch, S; Brösse, I; Schreckenberger, R; El Damaty, A; Sohn, C; Unterberg, AW

70. Jahrestagung der Deutschen Gesellschaft für Neurochirurgie (DGNC), Joint Meeting mit der Skandinavischen Gesellschaft für Neurochirurgie; 20190512-20190515; Würzburg; DOCV025 /20190508/

I. Brösse; B. Assmann; J. Reunert; M. Ries; S. Kölker; G. Hoffmann; T. Marquardt; S. Syrbe

Neuropediatrics. 48:S1-S45

S. Christ; F. Leypoldt; B. Hanebeck; B. Haber; I. Brösse; C. Schmitt; G. Hoffmann; S. Syrbe; A. Ziegler

Neuropediatrics. 48:S1-S45

Lim, Burton K.; Engstrom, Mark D.; Patton, John C.; Bickham, John W.

Mammalia. 70(1-2):120-125

J Pöschl; A El Damaty; M Elsässer; B Beedgen; C Sohn; I Brösse; A Unterberg; H Bächli

Zeitschrift für Geburtshilfe und Neonatologie.

Neuser S; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Brechmann B; Department of Neurology, The F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Department of Pediatrics, Hospital for Children and Adolescents, Heidelberg University Hospital, Heidelberg, Germany.; Heimer G; Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Brösse I; Department of Pediatrics, Hospital for Children and Adolescents, Heidelberg University Hospital, Heidelberg, Germany.; Schubert S; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; O'Grady L; Department of Pediatrics, Division of Medical Genetics and Metabolism, Massachusetts General Hospital, Boston, Massachusetts, USA.; Zech M; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.; Srivastava S; Department of Neurology, The F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Sweetser DA; Department of Pediatrics, Division of Medical Genetics and Metabolism, Massachusetts General Hospital, Boston, Massachusetts, USA.; Dincer Y; Lehrstuhl für Sozialpädiatrie, Department of Pediatrics, Technische Universität München, Germany.; Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ), Martinsried, Germany.; Mall V; Lehrstuhl für Sozialpädiatrie, Department of Pediatrics, Technische Universität München, Germany.; kbo-Kinderzentrum München, Munich, Germany.; Winkelmann J; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.; Lehrstuhl für Neurogenetik, Technische Universität München, Munich, Germany.; Munich Cluster for Systems Neurology (Synergy), Ludwig-Maximilians-Universität München, Munich, Germany.; Behrends C; Munich Cluster for Systems Neurology (Synergy), Ludwig-Maximilians-Universität München, Munich, Germany.; Darras BT; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Graham RJ; Department of Anesthesia, Critical Care and Pain Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Jayakar P; Nicklaus Children's Hospital, Miami, Florida, USA.; Byrne B; Powell Gene Therapy Center, University of Florida, Gainesville, Florida, USA.; Bar-Aluma BE; Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Haberman Y; Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Cincinnati Children's Hospital Medical Center and the University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.; Szeinberg A; Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Aldhalaan HM; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Hashem M; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Al Tenaiji A; Sheikh Khalifa Medical City, Abu Dhabi, United Arab Emirates.; Ismayl O; Sheikh Khalifa Medical City, Abu Dhabi, United Arab Emirates.; Al Nuaimi AE; Sheikh Khalifa Medical City, Abu Dhabi, United Arab Emirates.; Maher K; Sheikh Khalifa Medical City, Abu Dhabi, United Arab Emirates.; Ibrahim S; Department of Paediatrics and Child Health, Aga Khan University Hospital, Karachi, Pakistan.; Khan F; Department of Paediatrics and Child Health, Aga Khan University Hospital, Karachi, Pakistan.; Houlden H; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.; Ramakumaran VS; Oxford Centre for Genomic Medicine, Oxford, UK.; Pagnamenta AT; NIHR Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Tan WH; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; ElGhazali G; Sheikh Khalifa Medical City, Abu Dhabi, United Arab Emirates.; Herman I; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Department of Pediatrics, Section of Pediatric Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, Texas, USA.; Muñoz T; Facultad de Medicina, Clinica Alemana Universidad del Desarrollo, Santiago, Chile.; Repetto GM; Facultad de Medicina, Clinica Alemana Universidad del Desarrollo, Santiago, Chile.; Seitz A; Department of Diagnostic and Interventional Radiology, Heidelberg University Hospital, Heidelberg, Germany.; Krumbiegel M; Institute of Human Genetics, Friedrich-Alexander-Universität (FAU), Erlangen, Germany.; Poli MC; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.; Facultad de Medicina, Clinica Alemana Universidad del Desarrollo, Santiago, Chile.; Kini U; Oxford Centre for Genomic Medicine, Oxford, UK.; Efthymiou S; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.; Meiler J; Department of Chemistry, Vanderbilt University, Nashville, Tennessee, USA.; Institute for Drug Discovery, University of Leipzig Medical Center, Leipzig, Germany.; Maroofian R; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.; Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Popp B; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Ben-Zeev B; Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Ebrahimi-Fakhari D; Department of Neurology, The F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

I. Brösse; C. Vogelsang; A. Ziegler; G. Hoffmann

Neuropediatrics. 47

E. Schuler; A. Ziegler; A.-S. Kaiser; J.-H. Doering; G. Hoffmann; I. Brösse

Neuropediatrics. 47

Harris, Holly K.; Nakayama, Tojo; Lai, Jenny; Zhao, Boxun; Argyrou, Nikoleta; Gubbels, Cynthia S.; Soucy, Aubrie; Genetti, Casie A.; Suslovitch, Victoria; Rodan, Lance H.; Tiller, George E.; Lesca, Gaetan; Gripp, Karen W.; Asadollahi, Reza; Hamosh, Ada; Applegate, Carolyn D.; Turnpenny, Peter D.; Simon, Marleen E. H.; Volker-Touw, Catharina M. L.; van Gassen, Koen L. I.; van Binsbergen, Ellen; Pfundt, Rolph; Gardeitchik, Thatjana; de Vries, Bert B. A.; Immken, LaDonna L.; Buchanan, Catherine; Willing, Marcia; Toler, Tomi L.; Fassi, Emily; Baker, Laura; Vansenne, Fleur; Wang, Xiadong; Ambrus, Julian L., Jr.; Fannemel, Madeleine; Posey, Jennifer E.; Agolini, Emanuele; Novelli, Antonio; Rauch, Anita; Boonsawat, Paranchai; Fagerberg, Christina R.; Larsen, Martin J.; Kibaek, Maria; Labalme, Audrey; Poisson, Alice; Payne, Katelyn K.; Walsh, Laurence E.; Aldinger, Kimberly A.; Balciuniene, Jorune; Skraban, Cara; Gray, Christopher; Murrell, Jill; Bupp, Caleb P.; Pascolini, Giulia; Grammatico, Paola; Broly, Martin; Kury, Sebastien; Nizon, Mathilde; Rasool, Iqra Ghulam; Zahoor, Muhammad Yasir; Kraus, Cornelia; Reis, Andre; Iqbal, Muhammad; Uguen, Kevin; Audebert-Bellanger, Severine; Ferec, Claude; Redon, Sylvia; Baker, Janice; Wu, Yunhong; Zampino, Guiseppe; Syrbe, Steffan; Brosse, Ines; Jamra, Rami Abou; Dobyns, William B.; Cohen, Lilian L.; Blomhoff, Anne; Mignot, Cyril; Keren, Boris; Courtin, Thomas; Agrawal, Pankaj B.; Beggs, Alan H.; Yu, Timothy W.

GENETICS IN MEDICINE; JUN 2021, 23 6, p1028-p1040, 13p.

Itai T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.; Hamanaka K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.; Sasaki K; Department of Molecular Biology, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.; Wagner M; Institute of Human Genetics, School of Medicine, Technische Universität München, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany.; Kotzaeridou U; Department of Child Neurology and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Brösse I; Department of Child Neurology and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Ries M; Department of Child Neurology and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Kobayashi Y; Department of Child Neurology, National Hospital Organization Nishiniigata Chuo Hospital, Niigata, Niigata, Japan.; Tohyama J; Department of Child Neurology, National Hospital Organization Nishiniigata Chuo Hospital, Niigata, Niigata, Japan.; Kato M; Department of Pediatrics, Showa University School of Medicine, Shinagawa-ku, Tokyo, Japan.; Ong WP; Department of Genetics, Kuala Lumpur Hospital, Jalan Pahang, Kuala Lumpur, Malaysia.; Chew HB; Department of Genetics, Kuala Lumpur Hospital, Jalan Pahang, Kuala Lumpur, Malaysia.; Rethanavelu K; Department of Genetics, Kuala Lumpur Hospital, Jalan Pahang, Kuala Lumpur, Malaysia.; Ranza E; Swiss Institute of Genomic Medicine, Medigenome, Geneva, Switzerland.; Blanc X; Swiss Institute of Genomic Medicine, Medigenome, Geneva, Switzerland.; Uchiyama Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.; Rare Disease Genomics Department, Yokohama City University Hospital, Yokohama, Kanagawa, Japan.; Tsuchida N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.; Rare Disease Genomics Department, Yokohama City University Hospital, Yokohama, Kanagawa, Japan.; Fujita A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.; Azuma Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.; Koshimizu E; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.; Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.; Takata A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.; Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.; Takahashi H; Department of Molecular Biology, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.; Miyagi E; Department of Obstetrics and Gynecology, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.; Tsurusaki Y; Faculty of Nutritional Science, Sagami Women's University, Sagamihara, Kanagawa, Japan.; Doi H; Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.; Taguri M; Department of Data Science, Yokohama City University School of Data Science, Yokohama, Kanagawa, Japan.; Antonarakis SE; Swiss Institute of Genomic Medicine, Medigenome, Geneva, Switzerland.; Department of Genetic Medicine, University of Geneva Medical School, Geneva, Switzerland.; Nakashima M; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Shizuoka, Japan.; Saitsu H; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Shizuoka, Japan.; Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.; Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Kanagawa, Japan.; Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

N Heiner; V Distel; I Brösse; R Kaiser; A Trotter

Klinische Pädiatrie. 222

Saffari A; Division of Child Neurology and Metabolic Medicine, Center for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Brösse I; Division of Child Neurology and Metabolic Medicine, Center for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Wiemer-Kruel A; Clinic for Children and Adolescents, Epilepsy Centre Kork, Kehl-Kork, Germany.; Wilken B; Department of Pediatric Neurology, Kassel Hospital, Kassel, Germany.; Kreuzaler P; Department of Child Neurology, University Hospital, Gießen, Germany.; Hahn A; Department of Child Neurology, University Hospital, Gießen, Germany.; Bernhard MK; Department of Neuropediatrics, University Hospital of Children, Leipzig, Germany.; van Tilburg CM; Hopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.; Clinical Cooperation Unit Pediatric Oncology, German Cancer Research Center (DKFZ) and German Consortium for Translational Cancer Research (DKTK), Heidelberg, Germany.; KiTZ Clinical Trial Unit (ZIPO), Department of Pediatric Hematology and Oncology, Heidelberg University Hospital, Heidelberg, Germany.; Hoffmann GF; Division of Child Neurology and Metabolic Medicine, Center for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Gorenflo M; Department for Congenital Heart Defects/Paediatric Cardiology, Heidelberg University Hospital, Heidelberg, Germany.; Hethey S; Auf der Bult - Center for Children and Adolescents, Hannover, Germany.; Kaiser O; Department of Paediatrics I, Paediatric Neurology, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.; Kölker S; Division of Child Neurology and Metabolic Medicine, Center for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Wagner R; Department of Pediatric Cardiology, University of Leipzig, Heart Center, Leipzig, Germany.; Witt O; Hopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.; Clinical Cooperation Unit Pediatric Oncology, German Cancer Research Center (DKFZ) and German Consortium for Translational Cancer Research (DKTK), Heidelberg, Germany.; KiTZ Clinical Trial Unit (ZIPO), Department of Pediatric Hematology and Oncology, Heidelberg University Hospital, Heidelberg, Germany.; Merkenschlager A; Department of Neuropediatrics, University Hospital of Children, Leipzig, Germany.; Möckel A; Sana Kliniken Leipziger Land, Borna, Germany.; Roser T; Department of Paediatric Neurology and Developmental Medicine, Hauner Children's Hospital, University of Munich, Munich, Germany.; Schlump JU; Division for Children and Adolescents, Evangelical Hospital Oberhausen, Oberhausen, Germany.; Serfling A; Sana Kliniken Leipziger Land, Borna, Germany.; Spiegler J; Department of Pediatrics, University Medical Center Schleswig-Holstein, Campus Lübeck, Germany.; Milde T; Hopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.; Clinical Cooperation Unit Pediatric Oncology, German Cancer Research Center (DKFZ) and German Consortium for Translational Cancer Research (DKTK), Heidelberg, Germany.; KiTZ Clinical Trial Unit (ZIPO), Department of Pediatric Hematology and Oncology, Heidelberg University Hospital, Heidelberg, Germany.; Ziegler A; Division of Child Neurology and Metabolic Medicine, Center for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Syrbe S; Division of Child Neurology and Metabolic Medicine, Center for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany. steffen.syrbe@med.uni-heidelberg.de.

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

Simangunsong, E.; Ziegler-Devin, I.; Chrusciel, L.; Girods, P.; Wistara, N. J.; Brosse, N.

WASTE AND BIOMASS VALORIZATION; FEB 2020, 11 2, p625-p633, 9p.

Laurencin, C.; Lancelot, S.; Brosse, S.; Redoute, J.; Merida, I.; Le Bars, D.; Costes, N.; Thobois, S.; Boulinguez, P.; Ballanger, B.

MOVEMENT DISORDERS; SEP 2024, 39 pS464-pS464, 1p. Supplement: 1

Laurencin, C.; Lancelot, S.; Huddlestone, M.; Brosse, S.; Merida, I.; Costes, N.; Redoute, J.; Thobois, S.; Boulinguez, P.; Ballanger, B.

MOVEMENT DISORDERS; AUG 2023, 38 pS694-pS695, 2p. Supplement: 1

Brahim, M.; Boussetta, N.; Grimi, N.; Vorobiev, E.; Zieger-Devin, I.; Brosse, N.

INDUSTRIAL CROPS AND PRODUCTS; JAN 2017, 95 p643-p650, 8p.

Trably, C.; Brosse, A.; Plotton, I.; Berthillier, J.; Du Mesnildot, P.; Hadj, S.; Lornage, J.; Salle, B.

GYNECOLOGIE OBSTETRIQUE & FERTILITE; NOV 2015, 43 11, p722-p727, 6p.