부산대학교 도서관

Cusmano‐Ozog, Kristina P.; Renck, Alicia K.; Tise, Christina G.

JIMD Reports. November, 2022, Vol. 63 Issue 6, p563, 5 p.

Ehmke, Nadja ; Cusmano-Ozog, Kristina ; Koenig, Rainer ; Holtgrewe, Manuel ; Nur, Banu ; Mihci, Ercan ; Babcock, Holly ; Gonzaga-Jauregui, Claudia ; Overton, John D. ; Xiao, Jing ; Martinez, Ariel F. ; Muenke, Maximilian ; Balzer, Alexander ; Jochim, Judith ; El Choubassi, Naji ; Fischer-Zirnsak, Björn ; Huber, Céline ; Kornak, Uwe ; Elsea, Sarah H. ; Cormier-Daire, Valérie ; Ferreira, Carlos R.

In Bone April 2020 133

Frankel R; Stanford University, CA, USA.; Verscaj C; Stanford University, CA, USA.; Tise CG; Stanford University, CA, USA.; Cusmano-Ozog K; Stanford University, CA, USA.

Publisher: Sage on behalf of: American Federation for Medical Research Country of Publication: United States NLM ID: 101624758 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2324-7096 (Electronic) Linking ISSN: 23247096 NLM ISO Abbreviation: J Investig Med High Impact Case Rep Subsets: MEDLINE

Caterino, M; Chandler, RJ; Sloan, JL; Dorko, K; Cusmano-Ozog, K; Ingenito, L; Strom, SC; Imperlini, E; Scolamiero, E; Venditti, CP

MOLECULAR BIOSYSTEMS. 12(2):566-574

Galarreta CI; Medical Genetics and Metabolism Department, Valley Children's Hospital, Madera, California, USA.; Wong K; Department of Pediatrics, Valley Children's Hospital, Madera, California, USA.; Carmichael J; Medical Genetics and Metabolism Department, Valley Children's Hospital, Madera, California, USA.; Woods J; Medical Genetics and Metabolism Department, Valley Children's Hospital, Madera, California, USA.; Tise CG; Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children's Hospital and Stanford University, Stanford, California, USA.; Niehaus AD; Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children's Hospital and Stanford University, Stanford, California, USA.; Schildt AJ; Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children's Hospital and Stanford University, Stanford, California, USA.; Verscaj CP; Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children's Hospital and Stanford University, Stanford, California, USA.; Cusmano-Ozog KP; Department of Pathology, Stanford University, Stanford, California, USA.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Cusmano-Ozog K; Department of Pathology, Stanford University School of Medicine, Palo Alto, CA.; Matern D; Department of Laboratory Medicine and Pathology, Biochemical Genetics Laboratory, Mayo Clinic, Rochester, MN.; Long T; Department of Biostatistics, College of American Pathologists, Northfield, IL.; Longo N; Division of Clinical Genetics, Department of Human Genetics, University of California Los Angeles, Los Angeles, CA.; Young S; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC.

Publisher: Elsevier Inc Country of Publication: United States NLM ID: 9918734281906676 Publication Model: eCollection Cited Medium: Internet ISSN: 2949-7744 (Electronic) Linking ISSN: 29497744 NLM ISO Abbreviation: Genet Med Open Subsets: PubMed not MEDLINE

Manoli I.; Sysol J. R.; Li L.; Houillier P.; Garone C.; Wang C.; Zerfas P. M.; Cusmano-Ozog K.; Young S.; Trivedi N. S.; Cheng J.; Sloan J. L.; Chandler R. J.; Abu-Asab M.; Tsokos M.; Elkahloun A. G.; Rosen S.; Enns G. M.; Berry G. T.; Hoffmann V.; DiMauro S.; Schnermann J.; Venditti C. P.

Proceedings of the National Academy of Sciences. 110:13552-13557

Arnold, Georgianne L. ; Salazar, Denise ; Neidich, Julie A. ; Suwannarat, Pim ; Graham, Brett H. ; Lichter-Konecki, Uta ; Bosch, Annet M. ; Cusmano-Ozog, Kristina ; Enns, Greg ; Wright, Erica L. ; Lanpher, Brendan C. ; Owen, Natalie N. ; Lipson, Mark H. ; Cerone, Roberto ; Levy, Paul ; Wong, Lee-Jun C. ; Dezsofi, Antal

In Molecular Genetics and Metabolism August 2012 106(4):439-441

Billington CJ Jr; Children's National Rare Disease Institute, Washington, District of Columbia, USA.; Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota, USA.; Chapman KA; Children's National Rare Disease Institute, Washington, District of Columbia, USA.; Leon E; Children's National Rare Disease Institute, Washington, District of Columbia, USA.; Meltzer BW; Laboratory Medicine, Children's National Hospital, Washington, District of Columbia, USA.; Berger SI; Children's National Rare Disease Institute, Washington, District of Columbia, USA.; Olson M; HemoShear Therapeutics, Inc., Charlottesville, Virginia, USA.; Figler RA; HemoShear Therapeutics, Inc., Charlottesville, Virginia, USA.; Hoang SA; HemoShear Therapeutics, Inc., Charlottesville, Virginia, USA.; Wanxing C; Georgetown University Hospital, Washington, District of Columbia, USA.; Wamhoff BR; HemoShear Therapeutics, Inc., Charlottesville, Virginia, USA.; Collado MS; HemoShear Therapeutics, Inc., Charlottesville, Virginia, USA.; Cusmano-Ozog K; Department of Pathology, Stanford University Medical Center, Stanford, California, USA.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Chandler, R.J.; Tarasenko, T.N.; Cusmano-Ozog, K.; Sun, Q.; Sutton, V.R.; Venditti, C.P.; McGuire, P.J.

Gene Therapy. December 1, 2013, Vol. 20 Issue 12, p1188, 4 p.

Gregory M Enns; Tereza Moore; Anthony Le; Kondala Atkuri; Monisha K Shah; Kristina Cusmano-Ozog; Anna-Kaisa Niemi; Tina M Cowan

PLoS ONE, Vol 9, Iss 6, p e100001 (2014)

Zarate YA; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.; Bosanko KA; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.; Thomas MA; Departments of Medical Genetics and Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Miller DT; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; Cusmano-Ozog K; Department of Pathology, Stanford University Medical Center, Stanford, California, USA.; Martinez-Monseny A; Department of Clinical Genetics and Rare Disease Paediatric Unit, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.; Curry CJ; Genetic Medicine, Department of Pediatrics, University of California, San Francisco/Fresno, Fresno, California, USA.; Graham JM Jr; Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California, USA.; Velsher L; Genetics Division, North York General, Toronto, Ontario, Canada.; Bekheirnia MR; Departments of Pediatrics and Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Seidel V; Clinical Genetics, Department of Pediatrics, HGU Gregorio Marañón, Madrid, Spain.; Dedousis D; Department of Genetics and Genome Sciences, University Hospitals Center for Human Genetics, Cleveland, Ohio, USA.; Mitchell AL; Department of Genetics and Genome Sciences, University Hospitals Center for Human Genetics, Cleveland, Ohio, USA.; DiMarino AM; Division of Pediatric Pulmonology, UH Rainbow Babies and Children's Hospital, Cleveland, Ohio, USA.; Riess A; Institute of Medical Genetics and Applied Genomics, Medical faculty, University of Tuebingen, Tuebingen, Germany.; Balasubramanian M; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.; Fish JL; Department of Biological Sciences, University of Massachusetts Lowell, Lowell, Massachusetts, United States.; Caffrey AR; Health Outcomes, College of Pharmacy, University of Rhode Island, Kingston, Rhode Island, USA.; Fleischer N; FDNA Inc, Boston, Massachusetts, USA.; Pierson TM; Departments of Pediatrics and Neurology, The Board of Governors Regenerative Medicine Institute, Cedars Sinai Medical Center, Los Angeles, California, USA.; Lacro RV; Department of Cardiology, Boston Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.

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

Raible SE; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Roberts Individualized Medical Genetics Center (RIMGC), The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Mehta D; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Bettale C; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Fiordaliso S; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Kaur M; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Roberts Individualized Medical Genetics Center (RIMGC), The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Medne L; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Roberts Individualized Medical Genetics Center (RIMGC), The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Rio M; Department of Genetics, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.; Haan E; Australia and Faculty of Health and Medical Sciences, Adult Genetics Unit, Royal Adelaide Hospital, University of Adelaide, Adelaide, South Australia, Australia.; White SM; Department of Paediatrics, Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, University of Melbourne, Melbourne, Australia.; Cusmano-Ozog K; Rare Disease Institute, Children's National Health System, Washington, District of Columbia.; Nishi E; Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan.; Guo Y; Center for Data Driven Discovery in Biomedicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Wu H; Department of Pediatrics, The 307 Hospital, Beijing, China.; Shi X; Department of Pediatrics, The 307 Hospital, Beijing, China.; Zhao Q; Department of Pediatrics, The 307 Hospital, Beijing, China.; Zhang X; Department of Pediatrics, The 307 Hospital, Beijing, China.; Lei Q; Department of Pediatrics, The 307 Hospital, Beijing, China.; Lu A; Department of Pediatrics, The 307 Hospital, Beijing, China.; He X; Department of Pediatrics, The 307 Hospital, Beijing, China.; Okamoto N; Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan.; Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Piccione J; Division of Pulmonary Medicine and Center for Pediatric Airway Disorders, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Pediatrics, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.; Allen J; Division of Pulmonary Medicine and Center for Pediatric Airway Disorders, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Pediatrics, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.; Matsumoto N; Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan.; Pipan M; Department of Pediatrics, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.; Developmental Behavioral Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Krantz ID; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Roberts Individualized Medical Genetics Center (RIMGC), The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Pediatrics, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.; Izumi K; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Roberts Individualized Medical Genetics Center (RIMGC), The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Pediatrics, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Bosfield K; Genetics and Metabolism, University of Tennessee Health Science Center, LeBonheur Children's Hospital, Memphis, TN.; Albert J; Pathology and Laboratory Medicine, Children's National Hospital, Washington, DC.; Cheng N; Genetics and Metabolism, Rare Disease Institute, Children's National Hospital, Washington, DC.; Swaringer T; Genetics and Metabolism, Rare Disease Institute, Children's National Hospital, Washington, DC.; Cusmano-Ozog K; Department of Pathology, Stanford University School of Medicine, Stanford, CA.; Regier DS; Genetics and Metabolism, Rare Disease Institute, Children's National Hospital, Washington, DC. Electronic address: DRegier@childrensnational.org.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

K. Cusmano-Ozog; K. Chen; A. Kwan; L. Hudgins

Journal of Investigative Medicine. 54:137-138

Strovel ET; Department of Pathology, University of Maryland School of Medicine, Baltimore, MD.; Cusmano-Ozog K; Department of Pathology, Stanford University School of Medicine, Stanford, CA.; Wood T; Section of Genetics and Metabolism, Department of Pediatrics, School of Medicine, Children's Hospital Colorado Anschutz Medical Campus, Aurora, CO.; Yu C; Department of Genetics and Genomics Science, Icahn School of Medicine at Mount Sinai, New York, NY; Sema4, Stamford, CT.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Ferreira CR; National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.; Division of Genetics and Metabolism, Children's National Health System, Washington, District Of Columbia.; Devaney JM; Division of Laboratory Medicine, Children's National Health System, Washington, District Of Columbia.; Hofherr SE; Division of Laboratory Medicine, Children's National Health System, Washington, District Of Columbia.; Pollard LM; Biochemical Genetics Laboratory, Greenwood Genetic Center, Greenwood, South Carolina.; Cusmano-Ozog K; Division of Genetics and Metabolism, Children's National Health System, Washington, District Of Columbia.; Division of Laboratory Medicine, Children's National Health System, Washington, District Of Columbia.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

K. Cusmano-Ozog; K. Chen; A. Kwan; L. Hudgins

Journal of Investigative Medicine. 54:S137.6-S138

K. Cusmano-Ozog; F. Lorey; S. Levine; M. Martin; E. Nicholas; S. Packman; D. S. Rosenblatt; T. M. Cowan; G. M. Enns

Journal of Investigative Medicine. 55:S90

Miller MJ; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA.; Cusmano-Ozog K; Department of Pathology, Stanford University Medical Center, Stanford, CA, USA.; Oglesbee D; Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.; Young S; Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE