부산대학교 도서관

Chan, AJS; Engchuan, W; Reuter, MS; Wang, ZZ; Thiruvahindrapuram, B; Trost, B; Nalpathamkalam, T; Negrijn, C; Lamoureux, S; Pellecchia, G; Patel, R; Sung, WWL; MacDonald, JR; Howe, JL; Vorstman, J; Sondheimer, N; Takahashi, N; Miles, JH; Anagnostou, E; Tammimies, K; Zarrei, M; Merico, D; Stavropoulos, DJ; Yuen, RKC; Fernandez, BA; Scherer, SW

Nature communications. 13(1):6463

R. S. Smith; E. T. Ryan; C.-K. Hu; K. Motoyama; N. Lanzillo; D. Metzler; L. Jiang; J. Demarest; R. Quon; L. Gignac; C. Breslin; A. Giannetta; S. Wright

AIP Advances, Vol 9, Iss 2, Pp 025015-025015-9 (2019)

Zmajkovicova K; X4 Pharmaceuticals (Austria) GmbH, Vienna, Austria.; Pawar S; Formerly X4 Pharmaceuticals (Austria) GmbH, Vienna, Austria.; Sharapova SO; Research Department, Belarusian Research Center for Pediatric Oncology, Hematology, and Immunology, Minsk, Belarus.; Geier CB; Department of Rheumatology and Clinical Immunology, University Medical Center Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Center for Chronic Immunodeficiency, University Medical Center Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Wiest I; Formerly X4 Pharmaceuticals (Austria) GmbH, Vienna, Austria.; Nguyen C; X4 Pharmaceuticals (Austria) GmbH, Vienna, Austria.; Monticelli H; X4 Pharmaceuticals (Austria) GmbH, Vienna, Austria.; Maier-Munsa S; Formerly X4 Pharmaceuticals (Austria) GmbH, Vienna, Austria.; Chen K; X4 Pharmaceuticals, Boston, MA.; Sleasman JW; Division of Allergy, Immunology, Department of Pediatrics, Duke University School of Medicine, Durham, NC.; Aleshkevich S; Research Department, Belarusian Research Center for Pediatric Oncology, Hematology, and Immunology, Minsk, Belarus.; Polyakova E; Research Department, Belarusian Research Center for Pediatric Oncology, Hematology, and Immunology, Minsk, Belarus.; Sakovich I; Research Department, Belarusian Research Center for Pediatric Oncology, Hematology, and Immunology, Minsk, Belarus.; Warnatz K; Department of Rheumatology and Clinical Immunology, University Medical Center Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Center for Chronic Immunodeficiency, University Medical Center Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Grimbacher B; Department of Rheumatology and Clinical Immunology, University Medical Center Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Center for Chronic Immunodeficiency, University Medical Center Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Proietti M; Department of Rheumatology and Clinical Immunology, Hannover Medical School, Hannover, Germany.; RESIST-Cluster of Excellence 2155, Hannover Medical School, Hannover, Germany.; Sondheimer N; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; Ujhazi B; Division of Allergy and Immunology, Department of Medicine, Johns Hopkins All Children's Hospital, St Petersburg, FL.; Gordon S; Division of Allergy and Immunology, Department of Medicine, Johns Hopkins All Children's Hospital, St Petersburg, FL.; Ellison M; Division of Allergy and Immunology, Department of Medicine, Johns Hopkins All Children's Hospital, St Petersburg, FL.; Yilmaz M; Division of Allergy and Immunology, Department of Medicine, Johns Hopkins All Children's Hospital, St Petersburg, FL.; Division of Allergy & Immunology, Department of Pediatrics, Morsani College of Medicine, University of South Florida, Tampa, FL.; Walter JE; Division of Allergy and Immunology, Department of Medicine, Johns Hopkins All Children's Hospital, St Petersburg, FL.; Division of Allergy & Immunology, Department of Pediatrics, Morsani College of Medicine, University of South Florida, Tampa, FL.; Division of Allergy and Immunology, Massachusetts General Hospital for Children, Boston, MA.; Badarau A; Formerly X4 Pharmaceuticals (Austria) GmbH, Vienna, Austria.; Taveras AG; X4 Pharmaceuticals, Boston, MA.; Neff JL; Division of Hematopathology, Department of Pathology, Duke University, Durham, NC.; Bledsoe JR; Department of Pathology, Boston Children's Hospital, Boston, MA.; Tarrant TK; Division of Rheumatology and Immunology, Department of Medicine, Duke University, Durham, NC.; Durham Veterans Affairs Medical Center, Durham, NC.

Publisher: American Society of Hematology Country of Publication: United States NLM ID: 101698425 Publication Model: Print Cited Medium: Internet ISSN: 2473-9537 (Electronic) Linking ISSN: 24739529 NLM ISO Abbreviation: Blood Adv Subsets: MEDLINE

Fehlings DL; Division of Developmental Paediatrics, Holland Bloorview Kids Rehabilitation Hospital, Toronto, Ontario, Canada.; Department of Paediatrics, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.; Zarrei M; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Engchuan W; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Sondheimer N; Department of Paediatrics, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.; Thiruvahindrapuram B; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; MacDonald JR; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Higginbotham EJ; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.; Thapa R; Division of Developmental Paediatrics, Holland Bloorview Kids Rehabilitation Hospital, Toronto, Ontario, Canada.; Behlim T; Centre for Outcomes Research and Evaluation, Research Institute of the McGill University Health Centre, Montréal, Québec, Canada.; Aimola S; Division of Developmental Paediatrics, Holland Bloorview Kids Rehabilitation Hospital, Toronto, Ontario, Canada.; Switzer L; Division of Developmental Paediatrics, Holland Bloorview Kids Rehabilitation Hospital, Toronto, Ontario, Canada.; Ng P; Centre for Outcomes Research and Evaluation, Research Institute of the McGill University Health Centre, Montréal, Québec, Canada.; Wei J; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Danthi PS; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Pellecchia G; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Lamoureux S; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Ho K; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Pereira SL; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; de Rijke J; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Sung WWL; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Mowjoodi A; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Howe JL; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Nalpathamkalam T; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Manshaei R; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, Ontario, Canada.; Ghaffari S; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Whitney J; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Patel RV; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Hamdan O; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Shaath R; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Trost B; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Knights S; Department of Paediatrics, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.; Grandview Children's Centre, Oshawa, Ontario, Canada.; Samdup D; Department of Pediatrics, Queen's University, Kingston, Ontario, Canada.; McCormick A; Children's Hospital of Eastern Ontario and University of Ottawa, Ottawa, Ontario, Canada.; Hunt C; Grandview Children's Centre, Oshawa, Ontario, Canada.; Kirton A; Department of Pediatrics, Department of Clinical Neuroscience, University of Calgary, Calgary, Alberta, Canada.; Kawamura A; Division of Developmental Paediatrics, Holland Bloorview Kids Rehabilitation Hospital, Toronto, Ontario, Canada.; Department of Paediatrics, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.; Mesterman R; Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada.; Gorter JW; Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada.; Dlamini N; Department of Paediatrics, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.; Division of Neurology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Neurosciences and Mental Health Program, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada.; Merico D; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Deep Genomics Inc., Toronto, Ontario, Canada.; Vevo Therapeutics Inc., San Francisco, CA, USA.; Hilali M; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Hirschfeld K; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Grover K; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Bautista NX; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Han K; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Marshall CR; Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.; Yuen RKC; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.; Subbarao P; Department of Paediatrics, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.; Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada.; Department of Physiology, University of Toronto, Toronto, Ontario, Canada.; Azad MB; Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Manitoba, Canada.; Turvey SE; Department of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada.; Mandhane P; Faculty of Medicine & Dentistry, Pediatrics Department, University of Alberta, Edmonton, Alberta, Canada.; Moraes TJ; Department of Paediatrics, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.; Program in Translation Medicine & Division of Respiratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.; Simons E; Department of Pediatrics and Child Health, Section of Allergy and Clinical Immunology, University of Manitoba, Children's Hospital Research Institute of Manitoba, Winnipeg, Manitoba, Canada.; Maxwell G; Women's Health Integrated Research Center, Inova Women's Service Line, Inova Health System, Falls Church, VA, USA.; Shevell M; Centre for Outcomes Research and Evaluation, Research Institute of the McGill University Health Centre, Montréal, Québec, Canada.; Departments of Pediatrics and Department of Neurology and Neurosurgery, McGill University, Montréal, Québec, Canada.; Costain G; Department of Paediatrics, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Michaud JL; Departments of Pediatrics and Neurosciences, Université de Montréal, Montréal, Québec, Canada.; CHU Sainte-Justine Azrieli Research Center, Montréal, Québec, Canada.; Hamdan FF; CHU Sainte-Justine Azrieli Research Center, Montréal, Québec, Canada.; Department of Pediatrics, Université de Montréal, Montréal, Québec, Canada.; Gauthier J; CHU Sainte-Justine Azrieli Research Center, Montréal, Québec, Canada.; Department of Pediatrics, Université de Montréal, Montréal, Québec, Canada.; Uguen K; CHU Sainte-Justine Azrieli Research Center, Montréal, Québec, Canada.; Stavropoulos DJ; Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.; Wintle RF; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Oskoui M; Centre for Outcomes Research and Evaluation, Research Institute of the McGill University Health Centre, Montréal, Québec, Canada.; Departments of Pediatrics and Department of Neurology and Neurosurgery, McGill University, Montréal, Québec, Canada.; Scherer SW; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada. Stephen.Scherer@sickkids.ca.; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada. Stephen.Scherer@sickkids.ca.; Department of Molecular Genetics and McLaughlin Centre, University of Toronto, Toronto, Ontario, Canada. Stephen.Scherer@sickkids.ca.

Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

S. Pawar; I. Wiest; S. Maier-Munsa; B. Maierhofer; N. Sondheimer; A. G. Taveras; A. Badarau; K. Zmajkovicova

HemaSphere, Vol 6, Pp 688-689 (2022)

Koeberl D; Duke University School of Medicine, Durham, NC, USA.; Schulze A; Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.; Sondheimer N; Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.; Lipshutz GS; University of California at Los Angeles (UCLA), Los Angeles, CA, USA.; Geberhiwot T; University of Birmingham, Birmingham, UK.; Li L; Moderna, Inc., Cambridge, MA, USA.; Saini R; Moderna, Inc., Cambridge, MA, USA.; Luo J; Moderna, Inc., Cambridge, MA, USA.; Sikirica V; Moderna, Inc., Cambridge, MA, USA.; Jin L; Moderna, Inc., Cambridge, MA, USA.; Liang M; Moderna, Inc., Cambridge, MA, USA.; Leuchars M; Moderna, Inc., Cambridge, MA, USA.; Grunewald S; Great Ormond Street Hospital for Children and Institute for Child Health, NIHR Biomedical Research Centre, London, UK. Stephanie.Grunewald@gosh.nhs.uk.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: PubMed not MEDLINE; MEDLINE

Koeberl D; Duke University School of Medicine, Durham, NC, USA.; Schulze A; Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.; Sondheimer N; Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.; Lipshutz GS; University of California at Los Angeles (UCLA), Los Angeles, CA, USA.; Geberhiwot T; University of Birmingham, Birmingham, UK.; Li L; Moderna, Inc., Cambridge, MA, USA.; Saini R; Moderna, Inc., Cambridge, MA, USA.; Luo J; Moderna, Inc., Cambridge, MA, USA.; Sikirica V; Moderna, Inc., Cambridge, MA, USA.; Jin L; Moderna, Inc., Cambridge, MA, USA.; Liang M; Moderna, Inc., Cambridge, MA, USA.; Leuchars M; Moderna, Inc., Cambridge, MA, USA.; Grunewald S; Great Ormond Street Hospital for Children and Institute for Child Health, NIHR Biomedical Research Centre, London, UK. Stephanie.Grunewald@gosh.nhs.uk.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: PubMed not MEDLINE; MEDLINE

Iverson, R.; Taljaard, M.; Pugliese, M.; Tingley, K.; Coyle, D.; Wilson, K.; Little, J.; Potter, B.K.; Geraghty, M.T.; Langley, E.; Yu, A.C.; Chakraborty, P.; Kronick, J.B.; Austin, V.; Inbar-Feigenberg, M.; Mercimek-Andrews, S.; Nagy, L.; Schulze, A.; Sondheimer, N.; Brunel-Guitton, C.; Buhas, D.; Mitchell, J.J.; Trakadis, Y.; Butcher, N.J.; Offringa, M.; Chan, A.K.J.; Jain-Ghai, S.; Siriwardena, K.; Dyack, S.; Goobie, S.; Vandersteen, A.; Greenberg, C.R.; Mhanni, A.; Karp, N.; Prasad, C.; Ratko, S.; Kozenko, M.; MacKenzie, J.; Pender, A.; Potter, M.; Lines, M.; Turner, L.; Wilson, B.J.; Maranda, B.; Salvarinova, R.; Stockler-Ipsiroglu, S.; Tapscott, K.; Van Karnebeek, C.; Sparkes, R.; Walia, J.S.

In: BMC Pediatrics. (BMC Pediatrics, December 2024, 24(1))

Koeberl D; Duke University School of Medicine, Durham, NC, USA.; Schulze A; Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.; Sondheimer N; Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.; Lipshutz GS; University of California at Los Angeles (UCLA), Los Angeles, CA, USA.; Geberhiwot T; University of Birmingham, Birmingham, UK.; Li L; Moderna, Inc., Cambridge, MA, USA.; Saini R; Moderna, Inc., Cambridge, MA, USA.; Luo J; Moderna, Inc., Cambridge, MA, USA.; Sikirica V; Moderna, Inc., Cambridge, MA, USA.; Jin L; Moderna, Inc., Cambridge, MA, USA.; Liang M; Moderna, Inc., Cambridge, MA, USA.; Leuchars M; Moderna, Inc., Cambridge, MA, USA.; Grunewald S; Great Ormond Street Hospital for Children and Institute for Child Health, NIHR Biomedical Research Centre, London, UK. Stephanie.Grunewald@gosh.nhs.uk.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE

Perreault M; Synlogic, Inc., Cambridge, MA 02142, USA. Electronic address: mylene@synlogictx.com.; Means J; Synlogic, Inc., Cambridge, MA 02142, USA.; Gerson E; Synlogic, Inc., Cambridge, MA 02142, USA.; James M; Synlogic, Inc., Cambridge, MA 02142, USA.; Cotton S; Synlogic, Inc., Cambridge, MA 02142, USA.; Bergeron CG; Synlogic, Inc., Cambridge, MA 02142, USA.; Simon M; Ginkgo Bioworks, Boston, MA 02210, USA.; Carlin DA; Ginkgo Bioworks, Boston, MA 02210, USA.; Schmidt N; Ginkgo Bioworks, Boston, MA 02210, USA.; Moore TC; Ginkgo Bioworks, Boston, MA 02210, USA.; Blasbalg J; Synlogic, Inc., Cambridge, MA 02142, USA.; Sondheimer N; Synlogic, Inc., Cambridge, MA 02142, USA.; Ndugga-Kabuye K; Synlogic, Inc., Cambridge, MA 02142, USA.; Denney WS; Human Predictions LLC, Boston, MA 02115, USA.; Isabella VM; Synlogic, Inc., Cambridge, MA 02142, USA.; Lubkowicz D; Synlogic, Inc., Cambridge, MA 02142, USA.; Brennan A; Synlogic, Inc., Cambridge, MA 02142, USA.; Hava DL; Synlogic, Inc., Cambridge, MA 02142, USA.

Publisher: Cell Press Country of Publication: United States NLM ID: 101302316 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1934-6069 (Electronic) Linking ISSN: 19313128 NLM ISO Abbreviation: Cell Host Microbe Subsets: MEDLINE