부산대학교 도서관

Psychodynamic Practice. May2025, Vol. 31 Issue 2, p190-198. 9p.

Savarirayan R; Skeletal Biology, Murdoch Children's Research Institute, Parkville, Melbourne, Australia.; Royal Children's Hospital, Parkville, Melbourne, Australia.; Department of Pediatrics, University of Melbourne, Parkville, Melbourne, Australia.; McDonnell C; Paediatric Endocrinology and Diabetes, Children's Health Ireland at Temple Street, Dublin, Ireland.; Paediatric Endocrinology, University of Dublin, Trinity College, Dublin, Ireland.; Bacino CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Hoernschemeyer DG; Pediatric Intensive Care Unit, University of Missouri Children's Hospital, Columbia.; Legare JM; Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison.; Abuzzahab MJ; McNeely Pediatric Diabetes Center and Endocrine Clinic, Children's Minnesota, Minneapolis.; Hofman PL; Clinical Research Unit, The Liggins Institute, University of Auckland, Auckland, New Zealand.; Campeau PM; Department de Pediatrie, Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, Quebec, Canada.; de Bergua Domingo JM; Department of Orthopedics, Unidad de Cirugía Artroscópica, Vithas Vitoria Hospital, Vitoria-Gasteiz, Spain.; Ward LM; Pediatric Bone Health, University of Ottawa, Ottawa, Ontario, Canada.; Paediatric Orthopaedic Surgery, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Smit K; Pediatric Bone Health, University of Ottawa, Ottawa, Ontario, Canada.; Paediatric Orthopaedic Surgery, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Smith A; Endocrine Sciences, Ascendis Pharma, Palo Alto, California.; Mao M; Endocrine Sciences, Ascendis Pharma, Palo Alto, California.; Ominsky MS; Endocrine Sciences, Ascendis Pharma, Palo Alto, California.; Freiberg LC; Endocrine Sciences, Ascendis Pharma, Hellerup, Denmark.; Shu AD; Endocrine Sciences, Ascendis Pharma, Palo Alto, California.; Hove HB; Department of Clinical Genetics and Paediatrics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.

Publisher: American Medical Association Country of Publication: United States NLM ID: 101589544 Publication Model: Print Cited Medium: Internet ISSN: 2168-6211 (Electronic) Linking ISSN: 21686203 NLM ISO Abbreviation: JAMA Pediatr Subsets: MEDLINE

McDonnell C; Discipline of Paediatrics, Children's Health Ireland at Temple Street, Dublin, Ireland.; Trinity College, University of Dublin, Dublin, Ireland.; Hove HB; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Irving M; Guy's and St Thomas' NHS Foundation Trust, Evelina Children's Hospital, London, UK.; White KK; Department of Pediatric Orthopedic Surgery, Children's Hospital Colorado, Aurora, Colorado, USA.; Fontecha CG; Orthopaedics and Traumatology Service, Hospital Sant Joan de Déu, Barcelona, Spain.; Legare JM; Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA.; Högler W; Department of Pediatrics and Adolescent Medicine, Johannes Kepler University Linz, Linz, Austria.; Hoernschemeyer DG; Pediatric Orthopedics, University of Missouri Children's Hospital, Columbia, Missouri, USA.; Schnabel D; Center for Chronically Sick Children, Charité - University Medicine Berlin, Berlin, Germany.; Unger S; Division of Genetic Medicine, Lausanne University Hospital, Lausanne, Switzerland.; Bacino CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Hofman P; The Liggins Institute, University of Auckland, Auckland, New Zealand.; Yu Y; Department of Pediatric Endocrinology and Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.; Ma H; Department of Pediatrics, The First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, China.; Gong C; Department of Endocrine and Genetics and Metabolism, Beijing Children's Hospital, Capital Medical University, National Centre for Children's Health, Beijing, China.; Luo X; Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.; Burrow TA; Department of Pediatrics, University of Arkansas for Medical Sciences College of Medicine, Little Rock, Arkansas, USA.; Baujat G; Service de Médecine Génomique des Maladies Rares Hôpital Universitaire Necker-Enfants Malades, Institut Imagine, Université Paris Cité, Paris, France.; Mora S; Department of Pediatrics, Laboratory of Pediatric Endocrinology, IRCCS Ospedale San Raffaele, Milan, Italy.; Fiscaletti M; CHU Sainte-Justine Azrieli Research Centre, University of Montreal, Montreal, Québec, Canada.; Zhao C; Ascendis Pharma Inc., Palo Alto, California, USA.; Makara MA; Ascendis Pharma Inc., Palo Alto, California, USA.; Shu AD; Ascendis Pharma Inc., Palo Alto, California, USA.; Savarirayan R; Skeletal Biology, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia, ravi.savarirayan@mcri.edu.au.; University of Melbourne, Parkville, Victoria, Australia, ravi.savarirayan@mcri.edu.au.

Publisher: Karger Country of Publication: Switzerland NLM ID: 101525157 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1663-2826 (Electronic) Linking ISSN: 16632818 NLM ISO Abbreviation: Horm Res Paediatr Subsets: MEDLINE

Maroni MJ; Neuroscience Graduate Group, University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.; Barton M; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.; Cell and Molecular Biology Graduate Group, University of Pennsylvania, Philadelphia, PA 19104, USA.; Lynch K; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.; Deshwar AR; Program in Developmental and Stem Cell Biology, Sickkids Research Institute, Toronto, ON M5G 0A4, Canada.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1E8, Canada.; Department of Paediatrics, University of Toronto, Toronto, ON M5S 1A1, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A1, Canada.; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON M5G 0A4, Canada.; Campbell PD; Department of Psychiatry, University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Cell and Developmental Biology, University of Pennsylvania, Philadelphia, PA 19104, USA.; Millard J; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Cell and Developmental Biology, University of Pennsylvania, Philadelphia, PA 19104, USA.; Lee R; Department of Biochemistry and Molecular Pharmacology, New York University Grossman School of Medicine, New York, NY 10016, USA.; Cohen A; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.; Cell and Molecular Biology Graduate Group, University of Pennsylvania, Philadelphia, PA 19104, USA.; Ahmad R; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.; Paranjapye A; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.; Faundes V; Laboratorio de Genética y Enfermedades Metabólicas, Instituto de Nutrición y Tecnología de los Alimentos, Universidad de Chile, Santiago 7830490, Chile.; Repetto GM; Rare Diseases Program, Center for Genetics and Genomics, Institute for Science and Innovation in Medicine, Facultad de Medicina, Clínica Alemana-Universidad del Desarrollo, Las Condes 7610671, Chile.; McKenna C; Northern Ireland Regional Genetics Service, Belfast BT9 7AB, Northern Ireland.; Shillington AL; Department of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.; Phornphutkul C; Division of Human Genetics, Rhode Island Hospital, Providence, RI 0290, USA.; Hove HB; Member of ERNBond, Rare Diseases Unit, Department of Pediatrics and Adolescent Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen 2100, Denmark.; Mancini GMS; Department of Clinical Genetics, Erasmus MC University Medical Center, GD Rotterdam 3015, The Netherlands.; Schot R; Department of Clinical Genetics, Erasmus MC University Medical Center, GD Rotterdam 3015, The Netherlands.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, GD Rotterdam 3015, The Netherlands.; Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, GD Rotterdam 3015, The Netherlands.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, GD Rotterdam 3015, The Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, GD Rotterdam 3015, The Netherlands.; Richmond CM; Genetic Health Queensland, Royal Brisbane & Women's Hospital, Herston, Queensland 4006, Australia.; School of Medicine, Griffith University, Gold Coast, Queensland 4215, Australia.; Lauzon J; Alberta Children's Hospital, Calgary AB Canada Department of Medical Genetics, Cummings School of Medicine, University of Calgary, Calgary AB T2N 1N4, Canada.; Ibrahim AIE; Brody School of Medicine, East Carolina University, Greenville, NC 27834, USA.; Nava C; Institut du Cerveau-Paris Brain Institute-ICM, Sorbonne Université, Inserm, CNRS, Hôpital Pitié Salpêtrière, 75013 Paris, France.; Département de Génétique, Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Hôpital Pitié-Salpêtrière, 75651 Paris, France.; Héron D; Département de Génétique, Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Hôpital Pitié-Salpêtrière, 75651 Paris, France.; van Aalst MMA; Department of Clinical Genetics, Erasmus MC University Medical Center, GD Rotterdam 3015, The Netherlands.; Atemin S; Genetic Medico-Diagnostic Laboratory 'Genica', Sofia 1612, Bulgaria.; Sleptsova M; Genetic Medico-Diagnostic Laboratory 'Genica', Sofia 1612, Bulgaria.; Department of Medical Chemistry and Biochemistry, Medical University Sofia, Sofia 1431, Bulgaria.; Aleksandrova I; Clinic of Child Neurology, MHATNP 'St. Naum', Medical University Sofia, Sofia 1431, Bulgaria.; Todorova A; Genetic Medico-Diagnostic Laboratory 'Genica', Sofia 1612, Bulgaria.; Department of Medical Chemistry and Biochemistry, Medical University Sofia, Sofia 1431, Bulgaria.; Watkins DL; Department of Genetics, McMaster Children's Hospital, Hamilton, ON L8N 3Z5, Canada.; Kozenko MA; Department of Genetics, McMaster Children's Hospital, Hamilton, ON L8N 3Z5, Canada.; Natera-de Benito D; Neuromuscular Unit, Hospital Sant Joan de Deu, Barcelona 08950, Spain.; Ortez C; Neuromuscular Unit, Hospital Sant Joan de Deu, Barcelona 08950, Spain.; Estevez-Arias B; Neuromuscular Unit, Hospital Sant Joan de Deu, Barcelona 08950, Spain.; Laboratory of Neurogenetics and Molecular Medicine, Institut de Recerca Sant Joan de Deu, Barcelona 08950, Spain.; Lecoquierre F; Department of Genetics and Reference Center for Developmental Disorders, Univ Rouen Normandie, Inserm U1245 and CHU Rouen, Rouen 76000, France.; Cassinari K; Department of Genetics and Reference Center for Developmental Disorders, Univ Rouen Normandie, Inserm U1245 and CHU Rouen, Rouen 76000, France.; Guerrot AM; Department of Genetics and Reference Center for Developmental Disorders, Univ Rouen Normandie, Inserm U1245 and CHU Rouen, Rouen 76000, France.; Levy J; Department of Genetics, APHP-Robert Debré University Hospital, Paris 75019, France.; Laboratoire de biologie médicale multisites SeqOIA-FMG2025, Paris 75014, France.; Latypova X; Department of Genetics, APHP-Robert Debré University Hospital, Paris 75019, France.; Laboratoire de biologie médicale multisites SeqOIA-FMG2025, Paris 75014, France.; Verloes A; Department of Genetics, APHP-Robert Debré University Hospital, Paris 75019, France.; Laboratoire de biologie médicale multisites SeqOIA-FMG2025, Paris 75014, France.; Innes AM; University of Calgary Department of Medical Genetics, Alberta Children's Hospital Research Institute, Calgary, AB T3B 6A8, Canada.; Yang XR; University of Calgary Department of Medical Genetics, Alberta Children's Hospital Research Institute, Calgary, AB T3B 6A8, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, BC V6T 1Z4, Canada.; Banka S; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9WL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK.; Vill K; Department of Pediatric Neurology and Developmental Medicine and LMU Center for Children with Medical Complexity, Dr. von Hauner Children's Hospital, LMU Hospital, Ludwig-Maximilians-University, Munich 80539, Germany.; Jacob M; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Kruer M; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Neurology, Cellular and Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.; Skidmore P; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Neurology, Cellular and Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.; College of Health Solutions, Arizona State University, Tempe, AZ 85287, USA.; Galaz-Montoya CI; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Neurology, Cellular and Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.; Genetics, GIDP PhD Program, Tucson, AZ 85721, USA.; Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Neurology, Cellular and Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.; Mester JL; GeneDx, Gaithersburg, MD 20877, USA.; Granato M; Department of Cell and Developmental Biology, University of Pennsylvania, Philadelphia, PA 19104, USA.; Armache KJ; Department of Biochemistry and Molecular Pharmacology, New York University Grossman School of Medicine, New York, NY 10016, USA.; Costain G; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1E8, Canada.; Department of Paediatrics, University of Toronto, Toronto, ON M5S 1A1, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A1, Canada.; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON M5G 0A4, Canada.; Korb E; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

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In Physics Letters B March 2026 874

Buciek LH; Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Department of Pediatrics, Center for Rare Diseases, Rigshospitalet, Copenhagen, Denmark.; Jacobsen JR; Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Department of Pediatrics, Center for Rare Diseases, Rigshospitalet, Copenhagen, Denmark.; Raj S; Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Adams AM; Respiratory and Sleep Medicine, The Royal Children's Hospital Melbourne, Melbourne, Victoria, Australia.; Vandeleur M; Respiratory and Sleep Medicine, The Royal Children's Hospital Melbourne, Melbourne, Victoria, Australia.; Hove HB; Department of Pediatrics, Center for Rare Diseases, Rigshospitalet, Copenhagen, Denmark.; Buchwald CV; Department of Otorhinolaryngology, Head and Neck Surgery, and Audiology, Rigshospitalet, Copenhagen, Denmark.; Kiaer EK; Department of Otorhinolaryngology, Head and Neck Surgery, and Audiology, Rigshospitalet, Copenhagen, Denmark.; Griffiths A; Respiratory and Sleep Medicine, The Royal Children's Hospital Melbourne, Melbourne, Victoria, Australia.; Savarirayan R; Molecular Therapies, Murdoch Children's Research Institute, Parkville, Victoria, Australia ravi.savarirayan@mcri.edu.au.

Publisher: BMJ Pub. Group [etc.] Country of Publication: England NLM ID: 0372434 Publication Model: Electronic Cited Medium: Internet ISSN: 1468-2044 (Electronic) Linking ISSN: 00039888 NLM ISO Abbreviation: Arch Dis Child Subsets: MEDLINE

Andersen PF; Department of Clinical Genetics, Center of Diagnostics. Copenhagen University Hospital -Rigshospitalet, Copenhagen, Denmark. Electronic address: peter.foerster.andersen@regionh.dk.; Ek J; Department of Clinical Genetics, Center of Diagnostics. Copenhagen University Hospital -Rigshospitalet, Copenhagen, Denmark.; Karstensen HG; Department of Clinical Genetics, Center of Diagnostics. Copenhagen University Hospital -Rigshospitalet, Copenhagen, Denmark.; Bak M; Department of Clinical Genetics, Center of Diagnostics. Copenhagen University Hospital -Rigshospitalet, Copenhagen, Denmark.; Grønborg SW; Department of Clinical Genetics, Center of Diagnostics. Copenhagen University Hospital -Rigshospitalet, Copenhagen, Denmark; Department of Paediatrics and Adolescent Medicine, Center for Rare Diseases, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark.; Hove HB; Department of Paediatrics and Adolescent Medicine, Center for Rare Diseases, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark.; Diness B; Department of Clinical Genetics, Center of Diagnostics. Copenhagen University Hospital -Rigshospitalet, Copenhagen, Denmark; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.; Hjortshøj TD; Department of Clinical Genetics, Center of Diagnostics. Copenhagen University Hospital -Rigshospitalet, Copenhagen, Denmark.; Hammer TB; Department of Clinical Genetics, Center of Diagnostics. Copenhagen University Hospital -Rigshospitalet, Copenhagen, Denmark.; Høi-Hansen C; Department of Paediatrics and Adolescent Medicine, Center for Rare Diseases, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark.; Schönewolf-Greulich B; Department of Clinical Genetics, Center of Diagnostics. Copenhagen University Hospital -Rigshospitalet, Copenhagen, Denmark.; Bisgaard AM; Department of Paediatrics and Adolescent Medicine, Center for Rare Diseases, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark.; Duno M; Department of Clinical Genetics, Center of Diagnostics. Copenhagen University Hospital -Rigshospitalet, Copenhagen, Denmark.; Østergaard E; Department of Clinical Genetics, Center of Diagnostics. Copenhagen University Hospital -Rigshospitalet, Copenhagen, Denmark; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.

Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE

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In The Lancet 21-27 April 2018 391(10130):1589-1598

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