부산대학교 도서관

Kristen Wigby; Monia Hammer; Mari Tokita; Priyanka Patel; Marilyn C. Jones; Austin Larson; Frances Velez Bartolomei; Natalie Dykzeul; Anne Slavotinek; Tiffany Yip; Sara Bandres‐Ciga; Brittany N. Simpson; Kristen Suhrie; Suma Shankar; Regan Veith; Jennifer Bragg; Cynthia Powell; Stephen F. Kingsmore; David Dimmock; Jill Maron; Jonathan Davis; Miguel Del Campo

American Journal of Medical Genetics Part A. 191:930-940

Verscaj CP; Stanford University, Palo Alto, California, USA.; Velez-Bartolomei F; University of Puerto Rico, School of Medicine, San Juan, PR, USA.; Bodle E; Stanford University, Palo Alto, California, USA.; Chan K; Stanford University, Palo Alto, California, USA.; Lyons MJ; Greenwood Genetic Center, Miami, Florida, USA.; Thorson W; University of Miami Miller School of Medicine, Miami, Florida, USA.; Tan WH; Boston Children's Hospital, Boston, Massachusetts, USA.; Rodig N; Boston Children's Hospital, Boston, Massachusetts, USA.; Graham JM Jr; Department of Pediatrics, Cedars-Sinai Medical Center, David Geffen School of Medicine, Los Angeles, California, USA.; Peron A; Medical Genetics, ASST Santi Paolo e Carlo, San Paolo Hospital, Milan, Italy.; Quintero-Rivera F; Departments of Pathology, Laboratory Medicine, and Pediatrics, Division of Genetic and Genomic Medicine School of Medicine, University of California Irvine, Irvine, California, USA.; Zackai EH; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Thomas MA; Departments of Medical Genetics and Pediatrics, University of Calgary, Calgary, Alberta, Canada.; Stevens CA; Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, Tennessee, USA.; Adam MP; University of Washington, Seattle, Washington, USA.; Bird LM; Department of Pediatrics, University of California San Diego and Rady Children's Hospital, San Diego, California, USA.; Jones MC; Department of Pediatrics, University of California San Diego and Rady Children's Hospital, San Diego, California, USA.; Matalon DR; Stanford University, Palo Alto, California, USA.

Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE

Alharbi H; Department of Pediatrics, Faculty of Medicine, University of Tabuk, Tabuk, Saudi Arabia.; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Daniel EJP; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Thies J; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, Washington, USA.; Chang I; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA.; Goldner DL; Division of Pediatric Gastroenterology, Hepatology and Nutrition, Columbia University Medical Center, New York, New York, USA.; Ng BG; Human Genetics Program, Sanford Burnham Prebys, La Jolla, California, USA.; Witters P; Department of Pediatric Gastroenterology, Hepatology and Nutrition, Center for Metabolic Diseases, University Hospital Leuven, Leuven, Belgium.; Department of Development and Regeneration, Faculty of Medicine, KU Leuven, University Hospitals Leuven, Leuven, Belgium.; Aqul A; Division of Pediatric Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, University of Texas Southwestern/Children's Medical Center, Dallas, Texas, USA.; Velez-Bartolomei F; Genetics Section, San Jorge Children and Women's Hospital in San Juan, San Juan, Puerto Rico, USA.; Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children's Hospital and Stanford University, Stanford, California, USA.; Enns GM; Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children's Hospital and Stanford University, Stanford, California, USA.; Hsu E; Division of Gastroenterology and Hepatology, Department of Pediatrics, Seattle Children's Hospital, University of Washington School of Medicine, Seattle, Washington, USA.; Kichula E; Division of Neurology, Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia and the Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Lee E; Genetic Services, Kaiser Permanente of Washington, Seattle, Washington, USA.; Lourenco C; Faculdade de Medicina de São José do Rio Preto (FAMERP), São Jose do Rio Preto - São Paulo, Brazil.; Personalized Medicine area, Special Education Sector at DLE/Grupo Pardini, Belo Horizonte - MG, Brazil.; Poskanzer SA; St. Luke's Health System, Boise, Idaho, USA.; Department of Pediatrics, School of Medicine, University of Washington, Seattle, Washington, USA.; Rasmussen S; Transplant Center, Department of Surgery, Seattle Children's Hospital University of Washington School of Medicine Seattle, Seattle, Washington, USA.; Saarela K; Division of Gastroenterology and Hepatology, Department of Pediatrics, Seattle Children's Hospital, University of Washington School of Medicine, Seattle, Washington, USA.; Wang YM; Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Cincinnati, Cincinnati, Ohio, USA.; Raymond KM; Department of Laboratory Medicine and Pathology, Laboratory Genetics and Genomics, Mayo Clinic, Rochester, Minnesota, USA.; Schultz MJ; Department of Laboratory Medicine and Pathology, Laboratory Genetics and Genomics, Mayo Clinic, Rochester, Minnesota, USA.; Freeze HH; Human Genetics Program, Sanford Burnham Prebys, La Jolla, California, USA.; Lam C; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA.; Edmondson AC; Department of Pediatrics, Division of Human Genetics, Section of Metabolism, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; He M; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

Tise CG; Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children's Hospital and Stanford University, Stanford, California, USA.; Morales JA; Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children's Hospital and Stanford University, Stanford, California, USA.; Lee AS; Division of Medical Genetics, Department of Pediatrics, Rady Children's Hospital and University of California, San Diego, California, USA.; Velez-Bartolomei F; Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children's Hospital and Stanford University, Stanford, California, USA.; Floyd BJ; Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children's Hospital and Stanford University, Stanford, California, USA.; Levy RJ; Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children's Hospital and Stanford University, Stanford, California, USA.; Cusmano-Ozog KP; Department of Pathology, Stanford University, Stanford, California, USA.; Feigenbaum AS; Division of Medical Genetics, Department of Pediatrics, Rady Children's Hospital and University of California, San Diego, California, USA.; Ruzhnikov MRZ; Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children's Hospital and Stanford University, Stanford, California, USA.; Division of Child Neurology, Department of Neurology, Lucile Packard Children's Hospital and Stanford University, Stanford, California, USA.; Lee CU; Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children's Hospital and Stanford University, Stanford, California, USA.; Enns GM; Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children's Hospital and Stanford University, Stanford, California, 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

Ramírez N; Department of Orthopaedic Surgery, Mayagüez Medical Center, Mayagüez, Puerto Rico.; School of Medicine, Ponce Health Sciences University, Ponce, Puerto Rico.; Monroig-Rivera C; School of Medicine, Ponce Health Sciences University, Ponce, Puerto Rico.; Department of Orthopaedic Surgery, Texas Scottish Rite Hospital for Children, Dallas, Texas.; De Jesús-Rojas W; School of Medicine, Ponce Health Sciences University, Ponce, Puerto Rico.; Department of Pediatrics and Basic Science, Ponce Health Science University, Ponce, Puerto Rico.; Rosado E; Atlantis Medical Center, Barceloneta, Puerto Rico.; Arciniegas Medina NJ; School of Medicine, Ponce Health Sciences University, Ponce, Puerto Rico.; Department of Pediatrics, Mayagüez Medical Center, Mayagüez, Puerto Rico.; Cornier AS; Department of Genetics, San Jorge Children's and Women Hospital, San Juan, Puerto Rico.; Department of Pediatrics, Universidad Central del Caribe School of Medicine, Bayamon, Puerto Rico.; Vélez-Bartolomei F; Genetics Division, Department of Pediatrics, University of Puerto Rico School of Medicine, San Juan, Puerto Rico.; Johnston CE; Department of Orthopaedic Surgery, Texas Scottish Rite Hospital for Children, Dallas, Texas.; Carlo S; School of Medicine, Ponce Health Sciences University, Ponce, Puerto Rico.; Department of Pediatrics, Mayagüez Medical Center, Mayagüez, Puerto Rico.; Department of Genetics, San Jorge Children's and Women Hospital, San Juan, Puerto Rico.; Department of Biochemistry, Ponce Health Sciences University, Ponce, Puerto Rico.

Publisher: Journal of Bone and Joint Surgery Country of Publication: United States NLM ID: 0014030 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1535-1386 (Electronic) Linking ISSN: 00219355 NLM ISO Abbreviation: J Bone Joint Surg Am Subsets: MEDLINE

Hernandez-Hernandez C; School of Medicine, Universidad Central del Caribe, Bayamon, PR, USA.; Pascual J; School of Medicine, Ponce Health Sciences University, Ponce, PR, USA.; Carlo S; Department of Biochemistry, Ponce Health Sciences University, Ponce, PR, USA.; Genetics Section, San Jorge Children's Hospital, San Juan, PR, USA.; Velez-Bartolomei F; Genetics Section, San Jorge Children's Hospital, San Juan, PR, USA.; Genetics, Stanford University, Stanford, CA, USA.; Rodriguez E; Cardiology, San Jorge Children's Hospital, San Juan, PR, USA.; Santiago Cornier A; Genetics Section, San Jorge Children's Hospital, San Juan, PR, USA.; Department of Pediatrics, Universidad Central del Caribe School of Medicine, Bayamon, PR, USA.; School of Public Health, Ponce Health Sciences University, Ponce, PR, USA.

Publisher: AME Publishing Company Country of Publication: China NLM ID: 101730832 Publication Model: eCollection Cited Medium: Internet ISSN: 2523-1995 (Electronic) Linking ISSN: 25231995 NLM ISO Abbreviation: AME Case Rep Subsets: PubMed not MEDLINE

Bodle EE; Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, California. Electronic address: Ethan.E.Bodle@kp.org.; Zhu W; Baylor Genetics, Houston, Texas.; Velez-Bartolomei F; Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, California.; Tesi-Rocha A; Department of Neurology, Stanford University School of Medicine, Stanford, California.; Liu P; Baylor Genetics, Houston, Texas; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Bernstein JA; Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, California.

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

Wigby, K.; Salz, L.; Wright, M.; Tokita, M.; Velez-Bartolomei, F.; Gomez-Ospina, N.; Larson, A.; Sweeney, N.; Kingsmore, S. F.; Jones, M.; del Campo, M.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A; APR 2020, 182 4, p931-p932, 2p.

Morales, J. A.; Velez-Bartolomei, F. P.; Ruzhnikov, M.; Enns, G. M.

JOURNAL OF INVESTIGATIVE MEDICINE; JAN 2022, 70 1, p194-p194, 1p.

Velez-Bartolomei, F.; Schelley, S.; Hanson-Kahn, A.; Walsh, L. K.; Smith, E.; Hudgins, L.; Manning, M.

JOURNAL OF INVESTIGATIVE MEDICINE; JAN 2020, 68 pA114-pA115, 2p. Supplement: 1

Zastrow, D. B.; Kohler, J.; Bonner, D.; Reuter, C.; Fernandez, L.; Chen, H.; Laurence, A.; Fresard, L.; Marwaha, S.; McCormack, C.; Majcherska, M.; Velez-Bartolomei, F.; Yang, Y.; Eng, C. M.; Fisher, P. G.; Ashley, E. A.; Uhlig, H. H.; Montgomery, S. B.; Wheeler, M. T.; Bernstein, J. A.; Undiagnosed Dis Network

AMERICAN JOURNAL OF MEDICAL GENETICS PART A; APR 2020, 182 4, p937-p937, 1p.

Velez-Bartolomei, F.; Bodle, E.; Chan, K.; Lyons, M.; Thorson, W.; Tan, W. H.; Zackai, E. H.; Thomas, M. A.; Stevens, C.; Adam, M. P.; Jones, M.; Hudgins, L.; Matalon, D. R.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A; APR 2020, 182 4, p935-p935, 1p.

Manning, M.; Velez-Bartolomei, F.; Schelley, S.; Hanson-Kahn, A.; Smith, E.; Hudgins, L.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A; APR 2020, 182 4, p938-p938, 1p.

Velez-Bartolomei, F.; Zastrow, D.; McCormack, C.; Kohler, J.; Ud, N.; Fisher, P.; Ashley, E.; Wheeler, M.; Bernstein, J.

JOURNAL OF INVESTIGATIVE MEDICINE; JAN 2019, 67 1, p208-p208, 1p.

Velez-Bartolomei F; Stanford University, Stanford, California; Lee C; Stanford University, Stanford, California; Enns G; Stanford University, Stanford, California

Publisher: University of Washington, Seattle Cited Medium: Internet