부산대학교 도서관

Chung, Hyung-Lok; Rump, Patrick; Lu, Di; Glassford, Megan R; Mok, Jung-Wan; Fatih, Jawid; Basal, Adily; Marcogliese, Paul C; Kanca, Oguz; Rapp, Michele; Fock, Johanna M; Kamsteeg, Erik-Jan; Lupski, James R; Larson, Austin; Haninbal, Mark C; Bellen, Hugo; Harel, Tamar

Human Molecular Genetics; Oct2022, Vol. 31 Issue 19, p3231-3244, 14p

Glassford, Megan R. M; Purcell, Ryan H.; Pass, Sarah M; Murphy, Melissa M.; The, Emory 3q29 Project,; Bassell, Gary J.; Mulle, Jennifer G. MHS,; Glassford, Megan R; Pass, Sarah; Mulle, Jennifer G; Emory 3q29 Project,

Journal of Developmental & Behavioral Pediatrics; Feb/Mar2022, Vol. 43 Issue 2, pe94-e102, 9p

Alstrup M; Department of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark. Electronic address: MOCHHA@rm.dk.; Cesca F; Department of Life Sciences, University of Trieste, Trieste, Italy; IIT Center for Synaptic Neuroscience and Technology, Genova, Italy. Electronic address: fcesca@units.it.; Krawczun-Rygmaczewska A; Department of Life Sciences, University of Trieste, Trieste, Italy; IIT Center for Synaptic Neuroscience and Technology, Genova, Italy.; López-Menéndez C; Instituto de Investigaciones Biomédicas Sols-Morreale. Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid, Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III. Madrid, Spain.; Pose-Utrilla J; Instituto de Investigaciones Biomédicas Sols-Morreale. Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid, Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III. Madrid, Spain.; Castberg FC; Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark; Department of Pediatrics, North Zealand Hospital, Hilleroed, Denmark.; Bjerager MO; Department of Pediatrics, North Zealand Hospital, Hilleroed, Denmark.; Finnila C; Hudson Alpha Institute for Biotechnology, Huntsville, AL.; Kruer MC; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ.; Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ.; Padilla-Lopez S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ.; Manwaring L; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO.; Keren B; Département de génétique, AP-HP.Sorbonne Université, Hôpital Pitié-Salpêtrière, Paris, France.; Afenjar A; APHP. Sorbonne Université, Centre de Référence Malformations et maladies congénitales du cervelet et déficiences intellectuelles de causes rares, UF de génétique clinique, Hôpital Trousseau, Paris, France.; Galatolo D; Molecular Medicine and Neurogenetics, IRCCS Stella Maris Foundation, Calambrone, Pisa, Italy.; Scalise R; Molecular Medicine and Neurogenetics, IRCCS Stella Maris Foundation, Calambrone, Pisa, Italy.; Santorelli FM; Molecular Medicine and Neurogenetics, IRCCS Stella Maris Foundation, Calambrone, Pisa, Italy.; Shillington A; Department of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; Department of Pediatrics, University of Cincinnati, Cincinnati, OH.; Vezain M; Univ Rouen Normandie, Inserm U1245, Normandie Univ, Rouen, France.; Martinovic J; Department of Fetal Pathology, AP-HP Antoine Beclere Hospital, University Paris Saclay, Clamart, France.; Stevens C; Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, TN.; Gowda VK; Department of Pediatric Neurology, Indira Gandhi institute of child health, Bangalore, India.; Srinivasan VM; Department of Pediatric Neurology, Indira Gandhi institute of child health, Bangalore, India.; Thiffault I; Genomic Medicine Center, Children's Mercy Research Institute, Kansas City, MO; University of Missouri Kansas City School of Medicine, Kansas City, MO; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO.; Pastinen T; Genomic Medicine Center, Children's Mercy Research Institute, Kansas City, MO; University of Missouri Kansas City School of Medicine, Kansas City, MO.; Baranano K; Johns Hopkins University, The Johns Hopkins Hospital, Baltimore, MD.; Lee A; Department of Pediatrics, Division of Genetics and Genomics, Washington University, Saint Louis, MO.; Granadillo J; Department of Pediatrics, Division of Genetics and Genomics, Washington University, Saint Louis, MO.; Glassford MR; Department of Pediatrics, Division of Genetics, Metabolism, and Genomic Medicine, University of Michigan, Ann Arbor, MI; Department of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.; Keegan CE; Department of Pediatrics, Division of Genetics, Metabolism, and Genomic Medicine, University of Michigan, Ann Arbor, MI.; Matthews N; WVU Medicine Children's Hospital, Division of Genetics, Morgantown, WV.; Saugier-Veber P; Univ Rouen Normandie, Inserm U1245, Normandie Univ, Rouen, France; CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, Rouen, France.; Iglesias T; Instituto de Investigaciones Biomédicas Sols-Morreale. Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid, Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III. Madrid, Spain. Electronic address: tiglesias@iib.uam.es.; Østergaard E; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.

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

Steele JL; University of Connecticut School of Medicine, Farmington, Connecticut.; Morrow MM; GeneDx, Inc., Gaithersburg, Maryland.; Sarnat HB; Departments of Paediatrics, Pathology (Neuropathology), and Clinical Neurosciences, University of Calgary Cumming School of Medicine and Alberta Children's Hospital Research Institute, Calgary, Alberta, Canada.; Alkhunaizi E; Department of Obstetrics and Gynecology, The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.; Brandt T; GeneDx, Inc., Gaithersburg, Maryland.; Chitayat DA; Department of Obstetrics and Gynecology, The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.; DeFilippo CP; Division of Genomic Medicine, Department of Pediatrics, MIND Institute, University of California-Davis, Sacramento, California.; Douglas GV; GeneDx, Inc., Gaithersburg, Maryland.; Dubbs HA; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Elloumi HZ; GeneDx, Inc., Gaithersburg, Maryland.; Glassford MR; Division of Pediatric Genetics, Metabolism and Genomic Medicine, Department of Pediatrics, C. S. Mott Children's Hospital, University of Michigan, Ann Arbor, Michigan.; Hannibal MC; Division of Pediatric Genetics, Metabolism and Genomic Medicine, Department of Pediatrics, C. S. Mott Children's Hospital, University of Michigan, Ann Arbor, Michigan.; Héron B; Hôpital Armand Trousseau, Service de Neurologie Pédiatrique, Paris, France.; Kim LE; Department of Laboratory Medicine and Genetics, Trillium Health Partners, Mississauga, Ontario, Canada.; Marco EJ; Department of Neurodevelopmental Medicine, CorticaCare, San Diego, California.; Mignot C; Clinical Genetic Department, Pitié Salpétrière University Hospital, Paris, France.; Monaghan KG; GeneDx, Inc., Gaithersburg, Maryland.; Myers KA; Division of Neurology, Department of Pediatrics, McGill University Health Centre, Montreal, Canada.; Parikh S; Department of Mitochondrial Medicine & Genetics, Cleveland Clinic, Cleveland, Ohio.; Quinonez SC; Division of Pediatric Genetics, Metabolism and Genomic Medicine, Department of Pediatrics, C. S. Mott Children's Hospital, University of Michigan, Ann Arbor, Michigan.; Rajabi F; Division of Genetics and Genomics, Boston Children's Hospital; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts.; Shankar SP; Division of Genomic Medicine, Department of Pediatrics, MIND Institute, University of California-Davis, Sacramento, California.; Shinawi MS; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri.; van de Kamp JJP; Clinical Genetics, Amsterdam University Medical Centers, Amsterdam Netherlands.; Veerapandiyan A; Division of Neurology, Department of Pediatrics, Arkansas Children's Hospital, Little Rock, Arkansas.; Waldman AT; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Graf WD; Division of Neurology, Department of Pediatrics, Connecticut Children's, University of Connecticut, Farmington, Connecticut. Electronic address: wgraf@connecticutchildrens.org.

Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5150 (Electronic) Linking ISSN: 08878994 NLM ISO Abbreviation: Pediatr Neurol Subsets: MEDLINE

Glassford MR; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia.; Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Freedman AA; Department of Epidemiology, Rollins School of Public Health, Emory University, Atlanta, Georgia.; Zwick ME; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia.; Department of Pediatrics, Emory University School of Medicine, Atlanta, Georgia.; Mulle JG; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia.; Department of Epidemiology, Rollins School of Public Health, Emory University, Atlanta, Georgia.

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