부산대학교 도서관

Calame DG; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Guo T; School of Biomedical Sciences, Faculty of Medicine, the Chinese University of Hong Kong, Hong Kong SAR, China.; Wang C; School of Biomedical Sciences, Faculty of Medicine, the Chinese University of Hong Kong, Hong Kong SAR, China.; Garrett L; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany; Institute of Developmental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Jolly A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Medical Scientist Training Program, Baylor College of Medicine, Houston, TX, USA.; Dawood M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Medical Scientist Training Program, Baylor College of Medicine, Houston, TX, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Kurolap A; Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Henig NZ; Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Herman I; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Boys Town National Research Hospital, Boys Town, NE, USA.; Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Becker L; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Rathkolb B; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany; Institute of Molecular Animal Breeding and Biotechnology, Gene Center, Ludwig-Maximilians University Munich, Munich, Germany; German Center for Diabetes Research (DZD), Ingolstädter Landstr. 1, 85764 Neuherberg, Germany.; Gerlini R; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Seisenberger C; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Marschall S; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Hunter JV; Department of Radiology, Baylor College of Medicine, Houston, TX, USA; E.B. Singleton Department of Pediatric Radiology, Texas Children's Hospital, Houston, TX, USA.; Gerard A; Texas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Heidlebaugh A; Autism & Developmental Medicine Institute, Geisinger, Danville, PA, USA.; Challman T; Autism & Developmental Medicine Institute, Geisinger, Danville, PA, USA.; Spillmann RC; Department of Pediatrics, Duke University Medical Center, Duke University, Durham, NC, USA.; Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, University of Texas Health Science Center at Houston, Houston, TX, USA.; Lalani S; Texas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Liu L; School of Biomedical Sciences, Faculty of Medicine, the Chinese University of Hong Kong, Hong Kong SAR, China.; Revah-Politi A; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY, USA.; Iglesias A; Division of Clinical Genetics, Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA.; Guzman E; Division of Clinical Genetics, Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA.; Baugh E; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.; Boddaert N; Paediatric Radiology Department, AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, 75015 Paris, France.; Rondeau S; Service de Médecine Génomique des Maladies Rares - APHP, Hôpital Necker Enfants Malades, Université de Paris, Paris, France.; Ormieres C; Service de Médecine Génomique des Maladies Rares - APHP, Hôpital Necker Enfants Malades, Université de Paris, Paris, France.; Barcia G; Service de Médecine Génomique des Maladies Rares - APHP, Hôpital Necker Enfants Malades, Université de Paris, Paris, France.; Tan QKG; Department of Pediatrics, Duke University Medical Center, Duke University, Durham, NC, USA.; Thiffault I; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO, USA.; Pastinen T; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO, USA; University of Missouri Kansas City School of Medicine, Kansas City, MO, USA.; Sheikh K; Department of Neurology, UT Health Science Center at Houston, McGovern Medical School, Houston, TX, USA.; Biliciler S; Department of Neurology, UT Health Science Center at Houston, McGovern Medical School, Houston, TX, USA.; Mei D; Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy.; Melani F; Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy.; Shashi V; Department of Pediatrics, Duke University Medical Center, Duke University, Durham, NC, USA.; Yaron Y; Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Steele M; Lifetime Neurodevelopmental Care, San Francisco, CA, USA.; Wakeling E; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Østergaard E; Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.; Nazaryan-Petersen L; Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark; Department of Cellular and Molecular Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.; Millan F; GeneDx, Gaithersburg, MD, USA.; Santiago-Sim T; GeneDx, Gaithersburg, MD, USA.; Thevenon J; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Fédération Hospitalo-Universitaire Médecine TRANSLationnelle et Anomalies du Développement, Centre Hospitalier Universitaire Dijon, Equipe Genetics of Developmental Anomalies-INSERM UMR 1231, Dijon, France.; Bruel AL; Functional Unit for Diagnostic Innovation in Rare Diseases, FHU-TRANSLAD, Dijon Bourgogne University Hospital, Dijon, France; INSERM UMR1231 GAD 'Génétique des Anomalies du Développement,' FHU-TRANSLAD, University of Burgundy, Dijon, France.; Thauvin-Robinet C; INSERM UMR1231 GAD 'Génétique des Anomalies du Développement,' FHU-TRANSLAD, University of Burgundy, Dijon, France; Department of Genetics and Reference Center for Development Disorders and Intellectual Disabilities, Dijon Bourgogne University Hospital, Dijon, France.; Popp D; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Gawlinski P; Institute of Mother and Child, Kasprzaka 17a, 02-211 Warsaw, Poland.; Wiszniewski W; Oregon Health & Sciences University, 3181 SW Sam Jackson Park Road L103, Portland, OR, USA.; Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait.; Pehlivan D; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Gailus-Durner V; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Guerrini R; Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy; University of Florence, Florence, Italy.; Fuchs H; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Hrabě de Angelis M; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany; German Center for Diabetes Research (DZD), Ingolstädter Landstr. 1, 85764 Neuherberg, Germany; Chair of Experimental Genetics, TUM School of Life Sciences, Technische Universität München, Alte Akademie 8, 85354 Freising, Germany.; Hölter SM; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany; Institute of Developmental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany; Technische Universität München, Freising-Weihenstephan, Germany.; Cheung HH; School of Biomedical Sciences, Faculty of Medicine, the Chinese University of Hong Kong, Hong Kong SAR, China.; Gu S; School of Biomedical Sciences, Faculty of Medicine, the Chinese University of Hong Kong, Hong Kong SAR, China; Key Laboratory for Regenerative Medicine, Ministry of Education, School of Biomedical Sciences, Faculty of Medicine, the Chinese University of Hong Kong, Hong Kong SAR, China; Kunming Institute of Zoology Chinese Academy of Sciences, the Chinese University of Hong Kong Joint Laboratory of Bioresources and Molecular Research of Common Diseases, Hong Kong SAR, China. Electronic address: shengu@cuhk.edu.hk.; Lupski JR; Texas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA. Electronic address: jlupski@bcm.edu.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Biliciler, S.; Kwan, J.

In Neuromuscular Disorders October 2023 33 Supplement 1:S190-S190

Hafeez K; Baylor College of Medicine, Houston, TX, Nerve and Muscle Center of Texas, Houston, Texas, USA.; Kushlaf H; University of Cincinnati, Cincinnati, Ohio, USA.; Al-Sultani H; Baylor College of Medicine, Houston, TX, Nerve and Muscle Center of Texas, Houston, Texas, USA.; Joseph AC; West Point US Military Academy, West Point, New York, USA.; Zaeem Z; University of Alberta, Canada, University of Alberta, Alberta, Canada.; Siddiqi Z; University of Alberta, Canada, University of Alberta, Alberta, Canada.; Laboy S; University of Florida, Jacksonville, Florida, USA.; Pulley M; University of Florida, Jacksonville, Florida, USA.; Habib AA; University of California, Irvine, California, USA.; Robbins NM; Geisel School of Medicine at Dartmouth, Hanover, New Hampshire, USA.; Zadeh S; Geisel School of Medicine at Dartmouth, Hanover, New Hampshire, USA.; Hafeez MU; Baylor College of Medicine, Houston, TX, Nerve and Muscle Center of Texas, Houston, Texas, USA.; Hussain Y; Austin Neuromuscular Center, Austin, Texas, USA.; Melendez-Zaidi A; Baylor College of Medicine, Houston, TX, Nerve and Muscle Center of Texas, Houston, Texas, USA.; Kassardjian C; University of Toronto, Toronto, Canada.; Johnson K; Ochsner Clinic Foundation, New Orleans, Louisiana, USA.; Leonhard H; Ochsner Clinic Foundation, New Orleans, Louisiana, USA.; Biliciler S; UT Health Science Center at Houston, Houston, Texas, USA.; Patino Murillas JE; UT Health Science Center at Houston, Houston, Texas, USA.; Shaibani AI; Baylor College of Medicine, Houston, TX, Nerve and Muscle Center of Texas, Houston, Texas, USA.

Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 7803146 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-4598 (Electronic) Linking ISSN: 0148639X NLM ISO Abbreviation: Muscle Nerve Subsets: MEDLINE

Mammen, A.L.; Pinal-Fernandez, I.; Amato, A.A.; Dimachkie, M.M.; Chinoy, H.; Lilleker, J.B.; Hussain, Y.; Allenbach, Y.; Benveniste, O.; Boroojerdi, B.; Vanderkelen, M.; Delicha, E.M.; Koendgen, H.; Farzaneh-Far, R.; Duda, P.W.; Sayegh, C.; Amato, A.A.; Biliciler, S.; Dimachkie, M.M.; Edmundson, C.; Freimer, M.; Geraci, A.; Machado, P.; Mammen, A.L.; Mozaffar, T.; Soltanzadeh, P.; Suresh, N.; van der Kooi, A.; Appleby, M.; Barohn, R.J.; Champtiaux, N.; Doughty, C.; Farias, J.; Farmakidis, C.; Habib, A.A.; Karam, C.; Lorusso, S.; Pasnoor, M.; Querin, G.; Raaphorst, J.; Ransley, G.; Saba, S.; Sheikh, K.; Snedden, A.; Statland, J.; Vu, T.

In: The Lancet Rheumatology. (The Lancet Rheumatology, 01 February 2023, 5(2):e67-e76)

Biliciler, S.; Kwan, J.

NEUROMUSCULAR DISORDERS; OCT 2023, 33 pS190-pS190, 1p. Supplement: SUPP1

Calame, D.; Garrett, L.; Jolly, A.; Dawood, M.; Kurolap, A.; Henig, N.; Fatih, J.; Herman, I; Du, H.; Mitani, T.; Becker, L.; Rathkolb, B.; Seisenberger, C.; Marschall, S.; Hunter, J.; Gerard, A.; Heidlebaugh, A.; Challman, T.; Spillmann, R.; Jhangiani, S.; Coban-Akdemir, Z.; Lalani, S.; Revah-Politi, A.; Iglesias, A.; Guzman, E.; Baugh, E.; Boddaert, N.; Rondeau, S.; Clothide, O.; Barcia, G.; Tan, Q.; Thiffault, I; Sheikh, K.; Biliciler, S.; Mei, D.; Melani, F.; Shashi, V; Yaron, Y.; Marafi, D.; Pehlivan, D.; Posey, J.; Gibbs, R.; Gailus-Durner, V; Guerrini, R.; Fuchs, H.; de Angelis, Hrabe M.; Holter, S.; Lupski, J.; Undiagnosed Diseases Network

ANNALS OF NEUROLOGY; OCT 2022, 92 pS34-pS35, 2p. Supplement: 28

Barohn RJ; Department of Neurology, The University of Kansas Medical Center, Kansas City.; Gajewski B; Department of Biostatistics & Data Science, The University of Kansas Medical Center, Kansas City.; Pasnoor M; Department of Neurology, The University of Kansas Medical Center, Kansas City.; Brown A; Department of Biostatistics & Data Science, The University of Kansas Medical Center, Kansas City.; Herbelin LL; Department of Neurology, The University of Kansas Medical Center, Kansas City.; Kimminau KS; Department of Family Medicine, The University of Kansas Medical Center, Kansas City.; Mudaranthakam DP; Department of Biostatistics & Data Science, The University of Kansas Medical Center, Kansas City.; Jawdat O; Department of Neurology, The University of Kansas Medical Center, Kansas City.; Dimachkie MM; Department of Neurology, The University of Kansas Medical Center, Kansas City.; Iyadurai S; The Ohio State University, Columbus.; Stino A; The Ohio State University, Columbus.; Kissel J; The Ohio State University, Columbus.; Pascuzzi R; Indiana University, Bloomington, Indiana.; Brannagan T; Columbia University Medical Center, New York, New York.; Wicklund M; Pennsylvania State University, Centre County.; Ahmed A; Pennsylvania State University, Centre County.; Walk D; University of Minnesota, Minneapolis.; Smith G; University of Utah, Salt Lake City.; Quan D; University of Colorado-Denver, Denver.; Heitzman D; Texas Neurology, Dallas.; Tobon A; UT Health Science-San Antonio, San Antonio, Texas.; Ladha S; Barrow Neurology, Phoenix, Arizona.; Wolfe G; University at Buffalo, Buffalo, New York.; Pulley M; University of Florida Jacksonville, Jacksonville.; Hayat G; Saint Louis University, St Louis, Missouri.; Li Y; Cleveland Clinic, Cleveland, Ohio.; Thaisetthawatkul P; University of Nebraska Medical Center, Omaha.; Lewis R; Cedars-Sinai Medical Center, Los Angeles, California.; Biliciler S; University of Texas Health Science Center at Houston.; Sharma K; University of Miami, Miami, Florida.; Salajegheh K; Brigham and Women's Hospital, Boston, Massachusetts.; Trivedi J; UT Southwestern Medical Center, Dallas, Texas.; Mallonee W; Hutchinson Clinic, Hutchinson, Kansas.; Burns T; University of Virginia, Charlottesville.; Jacoby M; Mercy Medical Center, Des Moines, Iowa.; Bril V; University of Toronto, Toronto, Ontario, Canada.; Vu T; University of South Florida-Tampa, Tampa.; Ramchandren S; University of Michigan, Ann Arbor.; Bazant M; Norton Neurology Services, Louisville, Kentucky.; Austin S; Seton Brain and Spine, Austin, Texas.; Karam C; Oregon Health and Science University, Portland.; Hussain Y; Austin Neuromuscular Center, Austin, Texas.; Kutz C; Colorado Springs Neurological Associates, Colorado Springs.; Twydell P; Spectrum Health, Grand Rapids, Michigan.; Scelsa S; Mt Sinai Beth Israel, New York, New York.; Kushlaf H; University of Cincinnati, Cincinnati, Ohio.; Wymer J; University of Florida-Gainesville, Gainesville.; Hehir M; University of Vermont, Burlington.; Kolb N; University of Vermont, Burlington.; Ralph J; University of California, San Francisco.; Barboi A; NorthShore University Health System, Evanston, Illinois.; Verma N; Neurological Services of Orlando Research, Orlando, Florida.; Ahmed M; Grand Medical Clinic, Katy, Texas.; Memon A; Henry Ford Hospital, Detroit, Michigan.; Saperstein D; Phoenix Neurological, Phoenix, Arizona.; Lou JS; University of North Dakota, Grand Forks.; Swenson A; University of Iowa Hospitals and Clinics, Iowa City.; Cash T; University of California-Irvine, Irvine.

Publisher: American Medical Association Country of Publication: United States NLM ID: 101589536 Publication Model: Print Cited Medium: Internet ISSN: 2168-6157 (Electronic) Linking ISSN: 21686149 NLM ISO Abbreviation: JAMA Neurol Subsets: MEDLINE

Kwan J; National Institute of Neurological Disorders and Stroke, National Institutes of Health, Building 10, Room 1D45, MSC 1140, 10 Center Drive, Bethesda, MD 20814, USA. Electronic address: justin.kwan@nih.gov.; Biliciler S; Department of Neurology, The University of Texas Health Science Center at Houston, McGovern Medical School, 6431 Fannin Street MSE#466, Houston, TX 77030, USA.

Publisher: Elsevier Health Sciences Division Country of Publication: United States NLM ID: 8603766 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-8853 (Electronic) Linking ISSN: 07490690 NLM ISO Abbreviation: Clin Geriatr Med Subsets: MEDLINE

Biliciler S; Department of Neurology, UT Health Science Center in Houston, McGovern Medical School, 6341 Fannin Street, MSC #466, Houston, TX 77030, USA. Electronic address: suur.biliciler@uth.tmc.edu.; Kwan J; Department of Neurology, Temple University, Lewis Katz School of Medicine, 3401 North Broad Street Street, Suite C525, Philadelphia, PA 19410, USA.

Publisher: Saunders Country of Publication: United States NLM ID: 8219232 Publication Model: Print Cited Medium: Internet ISSN: 1557-9875 (Electronic) Linking ISSN: 07338619 NLM ISO Abbreviation: Neurol Clin Subsets: MEDLINE

Krish SN; Departments of Neurology; †Radiology; and ‡Pathology, University of Texas Health Science Center at Houston, Houston, TX.; Nguyen T; Biliciler S; Kumaravel M; Wahed A; Risin S; Sheikh KA

Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 100887391 Publication Model: Print Cited Medium: Internet ISSN: 1537-1611 (Electronic) Linking ISSN: 15220443 NLM ISO Abbreviation: J Clin Neuromuscul Dis Subsets: MEDLINE