부산대학교 도서관

Vanlerberghe C; Univ. Lille, CHU Lille, ULR 7364 - RADEME - Maladies RAres du DÉveloppement embryonnaire et du Métabolisme, F-59000 Lille, France. Electronic address: clemence.vanlerberghe@chu-lille.fr.; Frénois F; Univ. Lille, CHU Lille, ULR 7364 - RADEME - Maladies RAres du DÉveloppement embryonnaire et du Métabolisme, F-59000 Lille, France.; Smol T; Univ. Lille, CHU Lille, ULR 7364 - RADEME - Maladies RAres du DÉveloppement embryonnaire et du Métabolisme, F-59000 Lille, France.; Jourdain AS; Univ. Lille, CHU Lille, ULR 7364 - RADEME - Maladies RAres du DÉveloppement embryonnaire et du Métabolisme, F-59000 Lille, France.; Escande F; Univ. Lille, CHU Lille, ULR 7364 - RADEME - Maladies RAres du DÉveloppement embryonnaire et du Métabolisme, F-59000 Lille, France.; Aït-Yahya E; CHU Lille, cellule bioinformatique, plateau commun de séquençage, Lille, France.; Aldeeri AA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA; King Saud University Medical City, Riyadh, Saudi Arabia.; Yu TW; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA.; Cormier-Daire V; Paris Cité University, Reference center for skeletal dysplasia, Imagine Institute, INSERM UMR 1163, Necker Hospital, Paris, France.; Ghoumid J; Univ. Lille, CHU Lille, ULR 7364 - RADEME - Maladies RAres du DÉveloppement embryonnaire et du Métabolisme, F-59000 Lille, France.; Jacob M; Institute of Human Genetics, Technical University of Munich, School of Medicine, Munich, Germany.; Newbury-Ecob R; Department of Clinical Genetics, University Hospitals Bristol NHS Foundation Trust, St Michael's Hospital, Southwell St, Bristol, UK.; Manouvrier S; Univ. Lille, CHU Lille, ULR 7364 - RADEME - Maladies RAres du DÉveloppement embryonnaire et du Métabolisme, F-59000 Lille, France.; Platon J; HEMATIM UR4666, Université Picardie Jules Verne, Amiens, France.; Sailer S; Institute of Human Genetics, Heidelberg University, Germany.; Brunelle P; Univ. Lille, CHU Lille, ULR 7364 - RADEME - Maladies RAres du DÉveloppement embryonnaire et du Métabolisme, F-59000 Lille, France.; Da Costa L; AP-HP, Service Hématologie Biologique, Hôpital Bicêtre, Le Kremlin-Bicêtre, France; HEMATIM UR4666, Université Picardie Jules Vernes, Amiens, France; U1170, Université Paris Saclay, Orsay, France.; Petit F; Univ. Lille, CHU Lille, ULR 7364 - RADEME - Maladies RAres du DÉveloppement embryonnaire et du Métabolisme, F-59000 Lille, France.

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

D'Gama AM; Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, MA; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA; Department of Pediatrics, Harvard Medical School, Boston, MA.; Wojcik MH; Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, MA; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA; Department of Pediatrics, Harvard Medical School, Boston, MA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA. Electronic address: monica.wojcik@childrens.harvard.edu.; Hills S; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA.; Douglas J; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA.; Yu TW; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA; Department of Pediatrics, Harvard Medical School, Boston, MA.; Agrawal PB; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA; Department of Pediatrics, Harvard Medical School, Boston, MA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA; Division of Neonatology, Department of Pediatrics, University of Miami Miller School of Medicine and Holtz Children's Hospital, Jackson Health System, Miami, FL.; Parker MG; Department of Pediatrics, UMass Chan School of Medicine, Worcester, MA.

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

Haviland I; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Hector RD; Simons Initiative for the Developing Brain & Patrick Wild Centre, Centre for Discovery Brain Sciences, University of Edinburgh, Edinburgh, UK.; Swanson LC; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Verran AS; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.; Sherrill E; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.; Frazier Z; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Denny AM; Division of Pediatric Neurology, University of Saskatchewan, Saskatoon, Saskatchewan, Canada.; Lucash J; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Zhang B; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; Dubbs HA; Division of Child Neurology, Children's Hospital of Philadelphia, Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Marsh ED; Division of Child Neurology, Children's Hospital of Philadelphia, Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Weisenberg JL; Department of Pediatric Neurology, Washington University School of Medicine, St. Louis, Missouri, USA.; Leonard H; Telethon Kids Institute, The University of Western Australia, Perth, Western Australia, Australia.; Crippa M; Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy.; Cogliati F; Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy.; Russo S; Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy.; Suter B; Division of Child Neurology, Texas Children's Hospital, Departments of Neurology and Pediatrics, Baylor College of Medicine, Houston, Texas, USA.; Rajaraman R; Division of Pediatric Neurology, UCLA Mattel Children's Hospital, Los Angeles, California, USA.; Percy AK; Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama, USA.; Schreiber JM; Division of Epilepsy, Neurophysiology, and Critical Care Neurology, Children's National Hospital, Washington, DC, USA.; Demarest S; Department of Pediatrics and Neurology, Precision Medicine Institute, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, Colorado, USA.; Benke TA; Department of Pediatrics, Pharmacology and Neurology, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, Colorado, USA.; Chopra M; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Yu TW; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.; Olson HE; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; Division of Epilepsy and Clinical Neurophysiology, Boston Children's Hospital, Boston, Massachusetts, 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

Pian JMY; Boston Children's Hospital, Boston, MA, USA. julia.pian@childrens.harvard.edu.; N=1 Collaborative, Boston, MA, USA. julia.pian@childrens.harvard.edu.; Owusu N; Columbia University Vagelos College of Physicians & Surgeons, New York, NY, USA.; Vitarello J; N=1 Collaborative, Boston, MA, USA.; Mila's Miracle Foundation, Boulder, CO, USA.; Yan WX; N=1 Collaborative, Boston, MA, USA.; Lo AW; MIT Sloan School of Management, MIT Laboratory for Financial Engineering, MIT Computer Science and Artificial Intelligence Laboratory, Cambridge, MA, USA.; Santa Fe Institute, Santa Fe, NM, USA.; Yu TW; Boston Children's Hospital, Boston, MA, USA. timothy.yu@childrens.harvard.edu.; N=1 Collaborative, Boston, MA, USA. timothy.yu@childrens.harvard.edu.; Harvard Medical School, Boston, MA, USA. timothy.yu@childrens.harvard.edu.

Publisher: Nature Publishing Company Country of Publication: United States NLM ID: 9502015 Publication Model: Print Cited Medium: Internet ISSN: 1546-170X (Electronic) Linking ISSN: 10788956 NLM ISO Abbreviation: Nat Med Subsets: MEDLINE

Lin CR; Department of Medical Education, Chang Gung Memorial Hospital, Linkou Branch, No. 5, Fuxing Street, Guishan District, Taoyuan City, 333, Taiwan.; Tsai SHL; Department of Orthopaedic Surgery, Chang Gung Memorial Hospital, Keelung Branch, and Chang Gung University, F7, No 222 Mai-King Road, Keelung, Taiwan.; Yu TW; Department of Medical Education, Kaohsiung Veterans General Hospital, No.386, Dazhong 1 Rd., Zuoying District, Kaohsiung City, 813414, Taiwan.; Lin PC; School of Medicine, College of Medicine, Fu Jen Catholic University, 510, Zhongzheng Rd., Xinzhuang District, New Taipei City, 24205, Taiwan.; Tsai ZD; School of Medicine, College of Medicine, Fu Jen Catholic University, 510, Zhongzheng Rd., Xinzhuang District, New Taipei City, 24205, Taiwan.; Lee KH; School of Traditional Chinese Medicine, Chang Gung University, 259 Wen-Hwa 1 Road, Kwei-Shan Tao-Yuan, Taiwan.; Fu TS; Department of Orthopaedic Surgery, Guishan District, Chang Gung Memorial Hospital, Linkou Branch, No. 5, Fuxing Street, Taoyuan City, 333, Taiwan.; Lai PL; Department of Orthopaedic Surgery, Guishan District, Chang Gung Memorial Hospital, Linkou Branch, No. 5, Fuxing Street, Taoyuan City, 333, Taiwan.; Tsai TT; Department of Orthopaedic Surgery, Guishan District, Chang Gung Memorial Hospital, Linkou Branch, No. 5, Fuxing Street, Taoyuan City, 333, Taiwan.; Hu YH; Department of Orthopaedic Surgery, Guishan District, Chang Gung Memorial Hospital, Linkou Branch, No. 5, Fuxing Street, Taoyuan City, 333, Taiwan. erichu10965@gmail.com.

Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 9301980 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-0932 (Electronic) Linking ISSN: 09406719 NLM ISO Abbreviation: Eur Spine J Subsets: MEDLINE

Yu TW; Laboratory of Veterinary Pharmacology, Cooperative Department of Veterinary Medicine, Tokyo University of Agriculture and Technology, Tokyo, Japan.; Yamamoto H; Laboratory of Veterinary Pharmacology, Cooperative Department of Veterinary Medicine, Tokyo University of Agriculture and Technology, Tokyo, Japan.; Morita S; Animal Emergency Medical Center, Tokyo University of Agriculture and Technology, Tokyo, Japan.; Fukushima R; Animal Emergency Medical Center, Tokyo University of Agriculture and Technology, Tokyo, Japan.; Elbadawy M; Laboratory of Veterinary Pharmacology, Cooperative Department of Veterinary Medicine, Tokyo University of Agriculture and Technology, Tokyo, Japan.; Department of Pharmacology, Faculty of Veterinary Medicine, Benha University, Elqaliobiya, Egypt.; Department of Pathology, College of Veterinary Medicine, University of Georgia, Athens, GA, USA.; Usui T; Laboratory of Veterinary Pharmacology, Cooperative Department of Veterinary Medicine, Tokyo University of Agriculture and Technology, Tokyo, Japan.; Sasaki K; Laboratory of Veterinary Pharmacology, Cooperative Department of Veterinary Medicine, Tokyo University of Agriculture and Technology, Tokyo, Japan.

Publisher: Japanese Society Of Veterinary Science Country of Publication: Japan NLM ID: 9105360 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1347-7439 (Electronic) Linking ISSN: 09167250 NLM ISO Abbreviation: J Vet Med Sci Subsets: MEDLINE

D'Gama AM; Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.; Hills S; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.; Douglas J; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.; Young V; Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.; Genetti CA; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Wojcik MH; Division of Newborn Medicine, Department of Pediatrics, Harvard Medical School, Boston Children's Hospital, Boston, Massachusetts, USA.; Division of Genetics and Genomics, Department of Pediatrics, Harvard Medical School, Boston Children's Hospital, Boston, Massachusetts, USA.; Feldman HA; Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.; Yu TW; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.; G Parker M; UMass Chan Medical School, Worcester, Massachusetts, USA.; Agrawal PB; Division of Neonatology, Department of Pediatrics, University of Miami Miller School of Medicine, Miami, Florida, USA pagrawal@miami.edu.; Jackson Health System, Holtz Children's Hospital, Miami, Florida, USA.

Publisher: BMJ Publishing Group Ltd Country of Publication: England NLM ID: 101552874 Publication Model: Electronic Cited Medium: Internet ISSN: 2044-6055 (Electronic) Linking ISSN: 20446055 NLM ISO Abbreviation: BMJ Open Subsets: MEDLINE

Yuan CH; Yu TW; Pan JY; Lin WC

Publisher: IEEE Computer Society Country of Publication: United States NLM ID: 9891704 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1941-0506 (Electronic) Linking ISSN: 10772626 NLM ISO Abbreviation: IEEE Trans Vis Comput Graph Subsets: MEDLINE

Lai J; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Program in Neuroscience, Harvard University, Boston, MA 02115, USA.; Demirbas D; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Kim J; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Jeffries AM; Department of Molecular, Cell, and Cancer Biology, University of Massachusetts Medical School, Worcester, MA 01605, USA.; Tolles A; Department of Molecular, Cell, and Cancer Biology, University of Massachusetts Medical School, Worcester, MA 01605, USA.; Park J; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Chittenden TW; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA; Computational Statistics and Bioinformatics Group, Genuity AI Research Institute, Genuity Science, Boston, MA 02114, USA.; Buckley PG; Genuity Genomics Centre, Genuity Science, D18 K7W4 Dublin, Ireland.; Yu TW; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Lodato MA; Department of Molecular, Cell, and Cancer Biology, University of Massachusetts Medical School, Worcester, MA 01605, USA. Electronic address: michael.lodato@umassmed.edu.; Lee EA; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA. Electronic address: ealee@childrens.harvard.edu.

Publisher: Cell Press Country of Publication: United States NLM ID: 101573691 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2211-1247 (Electronic) NLM ISO Abbreviation: Cell Rep Subsets: MEDLINE

Zhao B; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA; Harvard Medical School, Boston, MA, USA.; Nguyen MA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Woo S; Graduate School of Medical Science and Engineering, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, Republic of Korea.; Kim J; Graduate School of Medical Science and Engineering, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, Republic of Korea.; Yu TW; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA; Harvard Medical School, Boston, MA, USA. Electronic address: timothy.yu@childrens.harvard.edu.; Lee EA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA; Harvard Medical School, Boston, MA, USA. Electronic address: ealee@childrens.harvard.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