부산대학교 도서관

Maimuna S. Paul; Sydney L. Michener; Hongling Pan; Hiuling Chan; Jessica M. Pfliger; Jill A. Rosenfeld; Vanesa C. Lerma; Alyssa Tran; Megan A. Longley; Richard A. Lewis; Monika Weisz-Hubshman; Mir Reza Bekheirnia; Nasim Bekheirnia; Lauren Massingham; Michael Zech; Matias Wagner; Hartmut Engels; Kirsten Cremer; Elisabeth Mangold; Sophia Peters; Jessica Trautmann; Claudia Perne; Jessica L. Mester; Maria J. Guillen Sacoto; Richard Person; Pamela P. McDonnell; Stacey R. Cohen; Laina Lusk; Ana S.A. Cohen; Jean-Baptiste Le Pichon; Tomi Pastinen; Dihong Zhou; Kendra Engleman; Caroline Racine; Laurence Faivre; Sébastien Moutton; Anne-Sophie Denommé-Pichon; Hyun Yong Koh; Annapurna Poduri; Jeffrey Bolton; Cordula Knopp; Dong Sun Julia Suh; Andrea Maier; Mehran Beiraghi Toosi; Ehsan Ghayoor Karimiani; Reza Maroofian; Gerald Bradley Schaefer; Vijayalakshmi Ramakumaran; Pradeep Vasudevan; Benito Banos-Pinero; Alistair T. Pagnamenta; Chitra Prasad; Matthew Osmond; Sarah Schuhmann; Georgia Vasileiou; Sophie Russ-Hall; Ingrid E. Scheffer; Gemma L. Carvill; Heather Mefford; Maria T. Acosta; Margaret Adam; David R. Adams; Raquel L. Alvarez; Justin Alvey; Laura Amendola; Ashley Andrews; Euan A. Ashley; Carlos A. Bacino; Guney Bademci; Ashok Balasubramanyam; Dustin Baldridge; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H. Beggs; Edward Behrens; Gill Bejerano; Hugo J. Bellen; Jimmy Bennett; Beverly Berg-Rood; Jonathan A. Bernstein; Gerard T. Berry; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Devon Bonner; Lorenzo Botto; Brenna Boyd; Lauren C. Briere; Gabrielle Brown; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; Peter Byers; William E. Byrd; John Carey; Olveen Carrasquillo; Thomas Cassini; Ta Chen Peter Chang; Sirisak Chanprasert; Hsiao-Tuan Chao; Ivan Chinn; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; Matthew Coggins; F. Sessions Cole; Heather A. Colley; Heidi Cope; Rosario Corona; William J. Craigen; Andrew B. Crouse; Michael Cunningham; Precilla D’Souza; Hongzheng Dai; Surendra Dasari; Joie Davis; Jyoti G. Dayal; Esteban C. Dell'Angelica; Katrina Dipple; Daniel Doherty; Naghmeh Dorrani; Argenia L. Doss; Emilie D. Douine; Dawn Earl; David J. Eckstein; Lisa T. Emrick; Christine M. Eng; Marni Falk; Elizabeth L. Fieg; Paul G. Fisher; Brent L. Fogel; Irman Forghani; William A. Gahl; Ian Glass; Bernadette Gochuico; Page C. Goddard; Rena A. Godfrey; Katie Golden-Grant; Alana Grajewski; Don Hadley; Sihoun Hahn; Meghan C. Halley; Rizwan Hamid; Kelly Hassey; Nichole Hayes; Frances High; Anne Hing; Fuki M. Hisama; Ingrid A. Holm; Jason Hom; Martha Horike-Pyne; Alden Huang; Sarah Hutchison; Wendy Introne; Rosario Isasi; Kosuke Izumi; Fariha Jamal; Gail P. Jarvik; Jeffrey Jarvik; Suman Jayadev; Orpa Jean-Marie; Vaidehi Jobanputra; Lefkothea Karaviti; Shamika Ketkar; Dana Kiley; Gonench Kilich; Shilpa N. Kobren; Isaac S. Kohane; Jennefer N. Kohler; Susan Korrick; Mary Kozuira; Deborah Krakow; Donna M. Krasnewich; Elijah Kravets; Seema R. Lalani; Byron Lam; Christina Lam; Brendan C. Lanpher; Ian R. Lanza; Kimberly LeBlanc; Brendan H. Lee; Roy Levitt; Pengfei Liu; Xue Zhong Liu; Nicola Longo; Sandra K. Loo; Joseph Loscalzo; Richard L. Maas; Ellen F. Macnamara; Calum A. MacRae; Valerie V. Maduro; Audrey Stephannie Maghiro; Rachel Mahoney; May Christine V. Malicdan; Laura A. Mamounas; Teri A. Manolio; Rong Mao; Kenneth Maravilla; Ronit Marom; Gabor Marth; Beth A. Martin; Martin G. Martin; Julian A. Martínez-Agosto; Shruti Marwaha; Jacob McCauley; Allyn McConkie-Rosell; Alexa T. McCray; Elisabeth McGee; J. Lawrence Merritt; Matthew Might; Ghayda Mirzaa; Eva Morava; Paolo Moretti; John Mulvihill; Mariko Nakano-Okuno; Stanley F. Nelson; John H. Newman; Sarah K. Nicholas; Deborah Nickerson; Shirley Nieves-Rodriguez; Donna Novacic; Devin Oglesbee; James P. Orengo; Laura Pace; Stephen Pak; J. Carl Pallais; Christina G.S. Palmer; Jeanette C. Papp; Neil H. Parker; John A. Phillips III; Jennifer E. Posey; Lorraine Potocki; Barbara N. Pusey Swerdzewski; Aaron Quinlan; Deepak A. Rao; Anna Raper; Wendy Raskind; Genecee Renteria; Chloe M. Reuter; Lynette Rives; Amy K. Robertson; Lance H. Rodan; Natalie Rosenwasser; Francis Rossignol; Maura Ruzhnikov; Ralph Sacco; Jacinda B. Sampson; Mario Saporta; Judy Schaechter; Timothy Schedl; Kelly Schoch; Daryl A. Scott; C. Ron Scott; Elaine Seto; Vandana Shashi; Jimann Shin; Edwin K. Silverman; Janet S. Sinsheimer; Kathy Sisco; Edward C. Smith; Kevin S. Smith; Lilianna Solnica-Krezel; Ben Solomon; Rebecca C. Spillmann; Joan M. Stoler; Kathleen Sullivan; Jennifer A. Sullivan; Angela Sun; Shirley Sutton; David A. Sweetser; Virginia Sybert; Holly K. Tabor; Queenie K.-G. Tan; Amelia L.M. Tan; Arjun Tarakad; Mustafa Tekin; Fred Telischi; Willa Thorson; Cynthia J. Tifft; Camilo Toro; Alyssa A. Tran; Rachel A. Ungar; Tiina K. Urv; Adeline Vanderver; Matt Velinder; Dave Viskochil; Tiphanie P. Vogel; Colleen E. Wahl; Melissa Walker; Stephanie Wallace; Nicole M. Walley; Jennifer Wambach; Jijun Wan; Lee-kai Wang; Michael F. Wangler; Patricia A. Ward; Daniel Wegner; Monika Weisz Hubshman; Mark Wener; Tara Wenger; Monte Westerfield; Matthew T. Wheeler; Jordan Whitlock; Lynne A. Wolfe; Kim Worley; Changrui Xiao; Shinya Yamamoto; John Yang; Zhe Zhang; Stephan Zuchner

Am. J. Hum. Genet. 111, 96-118 (2024)

Low, K.J.; Treneman-Evans, G.; Ingram, J.; Wynn, S.L.; Alsters, S.; Armstrong, R.; Ashraf, T.; Baker, Q.; Balasubramanian, M.; Baralle, D.; Berg, J.; Bhatnagar, I.; Bertoli, M.; Boddington, T.; Blyth, M.; Breen, C.; Brittain, H.; Bryson, L.; Carmichael, J.; Clement, E.; Coupar, T.; de Burca, A.; Dias, C.; van Dijk, F.S.; Dixit, A.; Donaldson, A.; Douglas, A.; Eason, J.; Elkhateeb, N.; Elkady, S.; Fauzi, F.; Fletcher, E.; Firth, H.V.; Foulds, N.; Furnell, C.; Fry, A.E.; Furness, L.; Gardner, J.; Gazdagh, G.; Gowie, M.; Green, A.; Hamad, A.; Harrison, R.; Hartill, V.; Harris, L.; Hay, E.; Higgs, J.; Hoffman, J.; Holden, S.; Iancu, D.; Irving, R.; Jain, V.; Jewell, R.; Johnson, D.; Jones, G.; Kaemba, B.; Kamath, A.; Kavasoglu, A.N.; Khan, T.; Kharbanda, M.; King, S.; Kini, U.; Kraus, A.; Kumar, A.; Lachlan, K.; Lakhani, N.; Lam, W.; Lampe, A.; Lazenbury, A.; Leitch, H.; Leveret, H.; Liebert, S.; Maiden, J.; Majumdar, A.; Male, A.; McNeil, A.; McGowan, R.; McHale, H.; McWilliam, C.; Memish, J.; Menzies, L.; Mohamed, R.; Montgomery, T.; Murch, O.; Osborne, F.; Parker, M.; Pottinger, C.; Ramakumaran, V.; Richardson, R.; Robertson, L.; Ross, A.; Searle, C.; Selah, W.; Seyara, R.; Shaw-Smith, C.; Somarathi, S.; Stanley, C.; Steel, E.; Stewart, A.; Stewart, H.; Templeton, K.; Tharakan, R.; Tooley, M.; Wafik, M.; Wakeling, E.; Wall, E.; Watford, A.; Wells, P.; Woods, E.; Wilson, L.

In: Health Expectations. (Health Expectations, August 2025, 28(4))

Yoon JG; Department of Genomic Medicine, Seoul National University Hospital, Seoul, Republic of Korea; Department of Laboratory Medicine, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea.; Lim SK; Department of Pharmacology, Seoul National University College of Medicine, Seoul, Republic of Korea; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea.; Seo H; Department of Transdisciplinary Medicine, Seoul National University Hospital, Seoul, Republic of Korea.; Lee S; Department of Genomic Medicine, Seoul National University Hospital, Seoul, Republic of Korea; Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Republic of Korea.; Cho J; Department of Genomic Medicine, Seoul National University Hospital, Seoul, Republic of Korea; Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Republic of Korea.; Kim SY; Department of Genomic Medicine, Seoul National University Hospital, Seoul, Republic of Korea; Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Republic of Korea.; Koh HY; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Poduri AH; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Ramakumaran V; LNR Genomic Medicine Service, University Hospitals of Leicester NHS Trust, Leicester, UK.; Vasudevan P; LNR Genomic Medicine Service, University Hospitals of Leicester NHS Trust, Leicester, UK.; de Groot MJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.; Ko JM; Department of Genomic Medicine, Seoul National University Hospital, Seoul, Republic of Korea; Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Republic of Korea.; Han D; Department of Transdisciplinary Medicine, Seoul National University Hospital, Seoul, Republic of Korea; Department of Medicine, Seoul National University College of Medicine, Seoul, Korea.; Chae JH; Department of Genomic Medicine, Seoul National University Hospital, Seoul, Republic of Korea; Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Republic of Korea. Electronic address: chaeped1@snu.ac.kr.; Lee CH; Department of Pharmacology, Seoul National University College of Medicine, Seoul, Republic of Korea; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea; Ischemic/hypoxic Disease Institute, Seoul National University College of Medicine, Seoul, Republic of Korea; Neuroscience Research Institute, Seoul National University College of Medicine, Seoul, Republic of Korea; Cancer Research Institute, Seoul National University College of Medicine, Seoul, Republic of Korea; Wide River Institute of Immunology, Seoul National University, Hongcheon, Republic of Korea; The Institute of Molecular Biology & Genetics, Seoul National University, Seoul, Republic of Korea. Electronic address: chulhwan@snu.ac.kr.

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

Paul MS; Michener SL; Pan H; Chan H; Pfliger JM; Rosenfeld JA; Lerma VC; Tran A; Longley MA; Lewis RA; Weisz-Hubshman M; Bekheirnia MR; Bekheirnia N; Massingham L; Zech M; Wagner M; Engels H; Cremer K; Mangold E; Peters S; Trautmann J; Perne C; Mester JL; Guillen Sacoto MJ; Person R; McDonnell PP; Cohen SR; Lusk L; Cohen ASA; Le Pichon JB; Pastinen T; Zhou D; Engleman K; Racine C; Faivre L; Moutton S; Denommé-Pichon AS; Koh HY; Poduri A; Bolton J; Knopp C; Julia Suh DS; Maier A; Toosi MB; Karimiani EG; Maroofian R; Schaefer GB; Ramakumaran V; Vasudevan P; Banos-Pinero B; Pagnamenta AT; Prasad C; Osmond M; Schuhmann S; Vasileiou G; Russ-Hall S; Scheffer IE; Carvill GL; Mefford H; Bacino CA; Lee BH; Chao 趙孝端 HT

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; PubMed not MEDLINE

Das Bhowmik A; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.; Salem Ramakumaran V; Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, India.; Dalal A; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.

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

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

Low KJ; Centre for Academic Child Health, Bristol Medical School, University of Bristol, Bristol, UK karen.low@bristol.ac.uk.; Clinical Genetics, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, England, UK.; Day H; Jean Golding Institute, University of Bristol, Bristol, UK.; Thanthilla MLK; Centre for academic child health, University of Bristol, Bristol, UK.; Davis C; Centre for academic child health, University of Bristol, Bristol, UK.; Firth HV; Cambridge University Addenbrooke's Hospital, Cambridge, UK.; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Cambridge, UK.; Wright C; College of Medicine and Health, University of Exeter Medical School Institute of Biomedical and Clinical Science, Exeter, Devon, UK.

Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE