부산대학교 도서관

Liang O; Precision Oncology Laboratory, Cancer Innovations, Centenary Institute, Sydney, NSW, Australia.; School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia.; White AL; Precision Oncology Laboratory, Cancer Innovations, Centenary Institute, Sydney, NSW, Australia.; School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia.; Fielder T; Department of Tissue Pathology and Diagnostic Oncology, Royal Prince Alfred Hospital, NSW Health Pathology, Sydney, NSW, Australia.; Shin JS; Department of Tissue Pathology and Diagnostic Oncology, Royal Prince Alfred Hospital, NSW Health Pathology, Sydney, NSW, Australia.; Central Clinical School, Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia.; Sagnella SM; Precision Oncology Laboratory, Cancer Innovations, Centenary Institute, Sydney, NSW, Australia.; Cell and Molecular Therapies, Royal Prince Alfred Hospital, Sydney Local Health District, Sydney, NSW, Australia.; Schmitz U; Central Clinical School, Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia.; Computational Biomedicine Lab, College of Science and Engineering, James Cook University, Townsville, QLD, Australia.; Yeo D; Precision Oncology Laboratory, Cancer Innovations, Centenary Institute, Sydney, NSW, Australia.; School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia.; Cell and Molecular Therapies, Royal Prince Alfred Hospital, Sydney Local Health District, Sydney, NSW, Australia.

Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101560960 Publication Model: eCollection Cited Medium: Internet ISSN: 1664-3224 (Electronic) Linking ISSN: 16643224 NLM ISO Abbreviation: Front Immunol Subsets: MEDLINE

Khoja IT; Resident in the Division of Laboratory Genetics and Genomics, Mayo Clinic School of Graduate Medical Education, Mayo Clinic College of Medicine and Science, Rochester, MN.; Peck DS; Division of Laboratory Genetics and Genomics, Mayo Clinic, Rochester, MN.; Gavrilov DK; Division of Laboratory Genetics and Genomics, Mayo Clinic, Rochester, MN.; McPheron MA; Riley Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN.; Oglesbee D; Division of Laboratory Genetics and Genomics, Mayo Clinic, Rochester, MN.; Bentz Pino G; Division of Laboratory Genetics and Genomics, Mayo Clinic, Rochester, MN.; Sapp KL; Riley Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN.; Schultz MJ; Division of Laboratory Genetics and Genomics, Mayo Clinic, Rochester, MN.; Studinski Jones AL; Division of Laboratory Genetics and Genomics, Mayo Clinic, Rochester, MN.; White AL; Division of Laboratory Genetics and Genomics, Mayo Clinic, Rochester, MN.; Tortorelli S; Division of Laboratory Genetics and Genomics, Mayo Clinic, Rochester, MN.; Matern D; Division of Laboratory Genetics and Genomics, Mayo Clinic, Rochester, MN.; Hall PL; Division of Laboratory Genetics and Genomics, Mayo Clinic, Rochester, MN. Electronic address: hall.patricia@mayo.edu.

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

Bontrager JE; Department of Neurology, University of Rochester Medical Center, NY.; White AL; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.; Brigatti KW; Clinic for Special Children, Gordonville, PA.; Laxen W; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.; Loken PR; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.; Grider T; Department of Neurology, University of Iowa Health Care, Iowa City, IA.; Oglesbee D; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.; Gavrilov DK; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.; Tortorelli S; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.; Hall PL; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.; Matern D; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.; Lauer E; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.; Pickart A; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.; Salsbery K; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.; Niu Z; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.; Smith C; Johns Hopkins University, School of Medicine, Baltimore, MD.; Albright A; Clinic for Special Children, Gordonville, PA.; Mukherjee-Clavin B; Johns Hopkins University, School of Medicine, Baltimore, MD.; Parmar P; Department of Neurology, Duke University School of Medicine, Durham, NC.; Mhoon J; Department of Neurology, Duke University School of Medicine, Durham, NC.; Massie R; Department of Neurology, Montreal Neurological Hospital, McGill University, QC, Canada.; Pilon-Cadieux C; Department of Neurology, Centre Hospitalier Universitaire Sainte-Justine, Universite de Montreal, QC, Canada; and.; Gauthier A; Department of Neurology, Centre Hospitalier Universitaire Sainte-Justine, Universite de Montreal, QC, Canada; and.; Alawneh J; Sheikh Shakhbout Medical City, Abu Dhabi, UAE.; Emilie Nguyen CT; Department of Neurology, Centre Hospitalier Universitaire Sainte-Justine, Universite de Montreal, QC, Canada; and.; Shy ME; Department of Neurology, University of Iowa Health Care, Iowa City, IA.; Koehler AE; Clinic for Special Children, Gordonville, PA.; Carson VJ; Clinic for Special Children, Gordonville, PA.; Herrmann DN; Department of Neurology, University of Rochester Medical Center, NY.; Schultz MJ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.

Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology Subsets: MEDLINE

Pino GB; Division of Laboratory Genetics and Genomics, Mayo Clinic, Rochester, MN, United States of America.; Quade MA; Division of Laboratory Genetics and Genomics, Mayo Clinic, Rochester, MN, United States of America.; Schultz MJ; Division of Laboratory Genetics and Genomics, Mayo Clinic, Rochester, MN, United States of America.; White AL; Division of Laboratory Genetics and Genomics, Mayo Clinic, Rochester, MN, United States of America.; Peck DS; Division of Laboratory Genetics and Genomics, Mayo Clinic, Rochester, MN, United States of America.; Studinski Jones AL; Division of Laboratory Genetics and Genomics, Mayo Clinic, Rochester, MN, United States of America.; Gavrilov DK; Division of Laboratory Genetics and Genomics, Mayo Clinic, Rochester, MN, United States of America.; Oglesbee D; Division of Laboratory Genetics and Genomics, Mayo Clinic, Rochester, MN, United States of America.; Tortorelli S; Division of Laboratory Genetics and Genomics, Mayo Clinic, Rochester, MN, United States of America.; Matern D; Division of Laboratory Genetics and Genomics, Mayo Clinic, Rochester, MN, United States of America.; Hall PL; Division of Laboratory Genetics and Genomics, Mayo Clinic, Rochester, MN, United States of America. Electronic address: hall.patricia@mayo.edu.

Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

Schultz MJ; Biochemical Genetics Laboratory, Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Rochester, Minnesota, USA.; Hall PL; Biochemical Genetics Laboratory, Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Rochester, Minnesota, USA.; Pino GB; Biochemical Genetics Laboratory, Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Rochester, Minnesota, USA.; White AL; Biochemical Genetics Laboratory, Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Rochester, Minnesota, USA.; Peck DS; Biochemical Genetics Laboratory, Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Rochester, Minnesota, USA.; Studinski AL; Biochemical Genetics Laboratory, Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Rochester, Minnesota, USA.; Thies JM; Biochemical Genetics Laboratory, Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Rochester, Minnesota, USA.; Gavrilov D; Biochemical Genetics Laboratory, Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Rochester, Minnesota, USA.; Oglesbee D; Biochemical Genetics Laboratory, Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Rochester, Minnesota, USA.; Tortorelli S; Biochemical Genetics Laboratory, Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Rochester, Minnesota, USA.; Matern D; Biochemical Genetics Laboratory, Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Rochester, Minnesota, USA.

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

Hall PL; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN. Electronic address: hall.patricia@mayo.edu.; White AL; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.; Peck D; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.; Pino G; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.; Studinski A; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.; Gavrilov D; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.; Oglesbee D; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.; Schultz MJ; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.; Tortorelli S; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.; Matern D; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.

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

Wegwerth PJ; Division of Laboratory Genetics and Genomics, Mayo Clinic, Rochester, Minnesota, USA.; White AL; Division of Laboratory Genetics and Genomics, Mayo Clinic, Rochester, Minnesota, USA.; Stoway SD; Department of Information Technology, Mayo Clinic, Rochester, Minnesota, USA.; Loken PR; Division of Laboratory Genetics and Genomics, Mayo Clinic, Rochester, Minnesota, USA.; Oglesbee D; Division of Laboratory Genetics and Genomics, Mayo Clinic, Rochester, Minnesota, USA.; Matern D; Division of Laboratory Genetics and Genomics, Mayo Clinic, Rochester, Minnesota, USA.; Tortorelli S; Division of Laboratory Genetics and Genomics, Mayo Clinic, Rochester, Minnesota, USA.; Raymond KM; Division of Laboratory Genetics and Genomics, Mayo Clinic, Rochester, Minnesota, USA.; Braverman NE; The Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada.; Gavrilov DK; Division of Laboratory Genetics and Genomics, Mayo Clinic, Rochester, Minnesota, 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

Caroline J. Ellison; Amy L. White

Annals of Leisure Research. 20:188-205

Sagnella SM; Cell & Molecular Therapies, Royal Prince Alfred Hospital, Sydney Local Health District, Camperdown 2050, Australia.; White AL; Faculty of Medicine and Health, The University of Sydney, Camperdown 2050, Australia.; Yeo D; Cell & Molecular Therapies, Royal Prince Alfred Hospital, Sydney Local Health District, Camperdown 2050, Australia; Faculty of Medicine and Health, The University of Sydney, Camperdown 2050, Australia; Li Ka Shing Cell & Gene Therapy Program, The University of Sydney, Camperdown 2050, Australia.; Saxena P; Faculty of Medicine and Health, The University of Sydney, Camperdown 2050, Australia; Division of Gastroenterology, Department of Medicine, Royal Prince Alfred Hospital, Sydney Local Health District, Camperdown 2050, Australia.; van Zandwijk N; Faculty of Medicine and Health, The University of Sydney, Camperdown 2050, Australia; Li Ka Shing Cell & Gene Therapy Program, The University of Sydney, Camperdown 2050, Australia; Concord Repatriation General Hospital, Sydney Local Health District, Concord 2139, Australia.; Rasko JEJ; Cell & Molecular Therapies, Royal Prince Alfred Hospital, Sydney Local Health District, Camperdown 2050, Australia; Faculty of Medicine and Health, The University of Sydney, Camperdown 2050, Australia; Li Ka Shing Cell & Gene Therapy Program, The University of Sydney, Camperdown 2050, Australia; Gene and Stem Cell Therapy Program Centenary Institute, The University of Sydney, Camperdown 2050, Australia. Electronic address: j.rasko@centenary.org.au.

Publisher: Elsevier Country of Publication: Netherlands NLM ID: 8907422 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-1186 (Electronic) Linking ISSN: 10436618 NLM ISO Abbreviation: Pharmacol Res Subsets: MEDLINE

Shimada S; Medical Genetic Branch, National Human Genome Research Institute, Bethesda, Maryland, USA s-shimada@juntendo.ac.jp.; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.; Ng BG; Human Genetics Program, Sanford-Burnham-Prebys Medical Discovery Institute, La Jolla, California, USA.; White AL; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.; Nickander KK; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.; Turgeon C; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.; Liedtke KL; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.; Lam CT; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.; Department of Pediatrics, University of Washington, Seattle, Washington, USA.; Font-Montgomery E; University Hospital Medical Genetics Clinic, University of Missouri, Columbia, Missouri, USA.; Lourenco CM; Department of Medical Genetics, School of Medicine, Neurogenetics Unit, University, Sao Paulo, Sao Paulo, Brazil.; Faculdade de Medicina, Centro Universitario Estácio de Ribeirão Preto, Ribeirão Preto, Brazil.; He M; Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Peck DS; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.; Umana LA; Division of Genetics and Metabolism, Department of Pediatrics, The University of Texas Southwestern Medical Center, Dallas, Texas, USA.; Uhles CL; Department of Genetics, Children's Medical Center Dallas, Dallas, Texas, USA.; Haynes D; Division of Genetics, Arnold Palmer Hospital for Children, Orlando, Florida, USA.; Wheeler PG; Division of Genetics, Arnold Palmer Hospital for Children, Orlando, Florida, USA.; Bamshad MJ; Department of Pediatrics, University of Washington, Seattle, Washington, USA.; Department of Genome Sciences, University of Washington, Seattle, Washington, USA.; Nickerson DA; Professor of Genome Sciences and Bioengineering, University of Washington, Seattle, Washington, USA.; Cushing T; Division of Pediatric Genetics, Department of Pediatrics, University of New Mexico School of Medicine, Albuquerque, New Mexico, USA.; Gates R; Division of Medical Genetics, Stanford University, Stanford, California, USA.; Gomez-Ospina N; Division of Medical Genetics, Stanford University, Stanford, California, USA.; Byers HM; Division of Medical Genetics, Stanford University, Stanford, California, USA.; Scalco FB; Laboratório de Erros Inatos do Metabolismo/LABEIM, Instituto de Química, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil.; Martinez NN; Center for Clinical Genetics, Sydney Children's Hospital Randwick, Randwick, New South Wales, Australia.; Sachdev R; Center for Clinical Genetics, Sydney Children's Hospital Randwick, Randwick, New South Wales, Australia.; School of Women's & Children's Health, University of New South Wales, Sydney, New South Wales, Australia.; Smith L; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.; Poduri A; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.; Malone S; Department of Neurosciences, Queensland Children's Hospital, South Brisbane, Queensland, Australia.; Harris RV; Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.; Scheffer IE; Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.; Department of Paediatrics, The University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia.; Rosenzweig SD; Department of Laboratory Medicine, Clinical Center, and Primary Immunodeficiency Clinic, National Institute of Allergy and Infectious Diseases, Bethesda, Maryland, USA.; Adams DR; Medical Genetic Branch, National Human Genome Research Institute, Bethesda, Maryland, USA.; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.; Gahl WA; Medical Genetic Branch, National Human Genome Research Institute, Bethesda, Maryland, USA.; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.; Malicdan MCV; Medical Genetic Branch, National Human Genome Research Institute, Bethesda, Maryland, USA.; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.; Raymond KM; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.; Freeze HH; Human Genetics Program, Sanford-Burnham-Prebys Medical Discovery Institute, La Jolla, California, USA.; Wolfe LA; Medical Genetic Branch, National Human Genome Research Institute, Bethesda, Maryland, USA.; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

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

Anderson KE; University of Texas Medical Branch, Galveston, TX, USA. Electronic address: kanderso@utmb.edu.; Lobo R; Quest Diagnostics, Nichols Institute, San Juan Capistrano, CA, USA.; Salazar D; Quest Diagnostics, Nichols Institute, San Juan Capistrano, CA, USA.; Schloetter M; Patient Advocate, Vista, CA, USA.; Spitzer G; Strategic Medical Testing Services, Greenville, SC, USA.; White AL; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.; Young RM; Special Chemistry Department, LabCorp Center for Esoteric Testing, Burlington, NC, USA.; Bonkovsky HL; NC Baptist Medical Center, Wake Forest University, Winston-Salem, NC, USA.; Frank EL; Department of Pathology and ARUP Laboratories, University of Utah, Salt Lake City, UT, USA.; Mora J; Alnylam Pharmaceuticals, Cambridge, MA, USA.; Tortorelli S; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.

Publisher: Elsevier Country of Publication: United States NLM ID: 0370506 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1538-2990 (Electronic) Linking ISSN: 00029629 NLM ISO Abbreviation: Am J Med Sci Subsets: MEDLINE

Guenzel AJ; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.; Turgeon CT; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.; Nickander KK; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.; White AL; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.; Peck DS; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.; Pino GB; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.; Studinski AL; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.; Prasad VK; Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.; Kurtzberg J; Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.; Escolar ML; Department of Pediatrics, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.; Lasio MLD; Department of Pediatrics, Washington University, St. Louis, MO, USA.; Pellegrino JE; Department of Pediatrics, Upstate Medical University, Syracuse, NY, USA.; Sakonju A; Department of Pediatrics, Upstate Medical University, Syracuse, NY, USA.; Hickey RE; Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Shallow NM; Vanderbilt University Medical Center, Nashville, TN, USA.; Ream MA; Nationwide Children's Hospital, Columbus, OH, USA.; Orsini JJ; Newborn Screening Program, Wadsworth Center, New York State Department of Health, Albany, NY, USA.; Gelb MH; Departments of Chemistry and Biochemistry, University of Washington, Seattle, WA, USA.; Raymond K; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.; Gavrilov DK; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.; Oglesbee D; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.; Rinaldo P; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.; Tortorelli S; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.; Matern D; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA. matern@mayo.edu.

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

Peck DS; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; lacey.jean@mayo.edu (J.M.L.); white.amy1@mayo.edu (A.L.W.); pino.gisele@mayo.edu (G.P.); studinski.april@mayo.edu (A.L.S.); gavrilov.dimitar@mayo.edu (D.G.); oglesbee.devin@mayo.edu (D.O.); raymond.kimiyo@mayo.edu (K.R.); matern@mayo.edu (D.M.); rinaldo@mayo.edu (P.R.).; Lacey JM; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; lacey.jean@mayo.edu (J.M.L.); white.amy1@mayo.edu (A.L.W.); pino.gisele@mayo.edu (G.P.); studinski.april@mayo.edu (A.L.S.); gavrilov.dimitar@mayo.edu (D.G.); oglesbee.devin@mayo.edu (D.O.); raymond.kimiyo@mayo.edu (K.R.); matern@mayo.edu (D.M.); rinaldo@mayo.edu (P.R.).; White AL; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; lacey.jean@mayo.edu (J.M.L.); white.amy1@mayo.edu (A.L.W.); pino.gisele@mayo.edu (G.P.); studinski.april@mayo.edu (A.L.S.); gavrilov.dimitar@mayo.edu (D.G.); oglesbee.devin@mayo.edu (D.O.); raymond.kimiyo@mayo.edu (K.R.); matern@mayo.edu (D.M.); rinaldo@mayo.edu (P.R.).; Pino G; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; lacey.jean@mayo.edu (J.M.L.); white.amy1@mayo.edu (A.L.W.); pino.gisele@mayo.edu (G.P.); studinski.april@mayo.edu (A.L.S.); gavrilov.dimitar@mayo.edu (D.G.); oglesbee.devin@mayo.edu (D.O.); raymond.kimiyo@mayo.edu (K.R.); matern@mayo.edu (D.M.); rinaldo@mayo.edu (P.R.).; Studinski AL; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; lacey.jean@mayo.edu (J.M.L.); white.amy1@mayo.edu (A.L.W.); pino.gisele@mayo.edu (G.P.); studinski.april@mayo.edu (A.L.S.); gavrilov.dimitar@mayo.edu (D.G.); oglesbee.devin@mayo.edu (D.O.); raymond.kimiyo@mayo.edu (K.R.); matern@mayo.edu (D.M.); rinaldo@mayo.edu (P.R.).; Fisher R; Division of Pediatric Genetics, Metabolism and Genomic Medicine, Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109, USA; firachel@med.umich.edu (R.F.); ayeshaah@med.umich.edu (A.A.).; Ahmad A; Division of Pediatric Genetics, Metabolism and Genomic Medicine, Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109, USA; firachel@med.umich.edu (R.F.); ayeshaah@med.umich.edu (A.A.).; Spencer L; Division of Genetic, Genomic and Metabolic Disorders, Children's Hospital of Michigan, Detroit, MI 48201, USA; lspencer@dmc.org.; Viall S; Rare Disease Institute, Children's National Health System, Washington, DC 20010, USA; sviall@childrensnational.org.; Shallow N; Division of Medical Genetics and Genomic Medicine, Monroe Carell Jr. Children's Hospital at Vanderbilt, Nashville, TN 37232, USA; natalie.shallow@vumc.org.; Siemon A; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH 43205, USA; amy.siemon@nationwidechildrens.org.; Hamm JA; Pediatric Genetics, East Tennessee Children's Hospital, Knoxville, TN 37916, USA; jahamm@etch.com.; Murray BK; Division of Medical Genetics and Metabolism, Children's Hospital of the King's Daughters, Norfolk, VA 23507, USA; brianna.murray@chkd.org (B.K.M.); kelly.jones@chkd.org (K.L.J.).; Jones KL; Division of Medical Genetics and Metabolism, Children's Hospital of the King's Daughters, Norfolk, VA 23507, USA; brianna.murray@chkd.org (B.K.M.); kelly.jones@chkd.org (K.L.J.).; Gavrilov D; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; lacey.jean@mayo.edu (J.M.L.); white.amy1@mayo.edu (A.L.W.); pino.gisele@mayo.edu (G.P.); studinski.april@mayo.edu (A.L.S.); gavrilov.dimitar@mayo.edu (D.G.); oglesbee.devin@mayo.edu (D.O.); raymond.kimiyo@mayo.edu (K.R.); matern@mayo.edu (D.M.); rinaldo@mayo.edu (P.R.).; Oglesbee D; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; lacey.jean@mayo.edu (J.M.L.); white.amy1@mayo.edu (A.L.W.); pino.gisele@mayo.edu (G.P.); studinski.april@mayo.edu (A.L.S.); gavrilov.dimitar@mayo.edu (D.G.); oglesbee.devin@mayo.edu (D.O.); raymond.kimiyo@mayo.edu (K.R.); matern@mayo.edu (D.M.); rinaldo@mayo.edu (P.R.).; Raymond K; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; lacey.jean@mayo.edu (J.M.L.); white.amy1@mayo.edu (A.L.W.); pino.gisele@mayo.edu (G.P.); studinski.april@mayo.edu (A.L.S.); gavrilov.dimitar@mayo.edu (D.G.); oglesbee.devin@mayo.edu (D.O.); raymond.kimiyo@mayo.edu (K.R.); matern@mayo.edu (D.M.); rinaldo@mayo.edu (P.R.).; Matern D; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; lacey.jean@mayo.edu (J.M.L.); white.amy1@mayo.edu (A.L.W.); pino.gisele@mayo.edu (G.P.); studinski.april@mayo.edu (A.L.S.); gavrilov.dimitar@mayo.edu (D.G.); oglesbee.devin@mayo.edu (D.O.); raymond.kimiyo@mayo.edu (K.R.); matern@mayo.edu (D.M.); rinaldo@mayo.edu (P.R.).; Rinaldo P; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; lacey.jean@mayo.edu (J.M.L.); white.amy1@mayo.edu (A.L.W.); pino.gisele@mayo.edu (G.P.); studinski.april@mayo.edu (A.L.S.); gavrilov.dimitar@mayo.edu (D.G.); oglesbee.devin@mayo.edu (D.O.); raymond.kimiyo@mayo.edu (K.R.); matern@mayo.edu (D.M.); rinaldo@mayo.edu (P.R.).; Tortorelli S; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; lacey.jean@mayo.edu (J.M.L.); white.amy1@mayo.edu (A.L.W.); pino.gisele@mayo.edu (G.P.); studinski.april@mayo.edu (A.L.S.); gavrilov.dimitar@mayo.edu (D.G.); oglesbee.devin@mayo.edu (D.O.); raymond.kimiyo@mayo.edu (K.R.); matern@mayo.edu (D.M.); rinaldo@mayo.edu (P.R.).

Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101665400 Publication Model: eCollection Cited Medium: Internet ISSN: 2409-515X (Electronic) Linking ISSN: 2409515X NLM ISO Abbreviation: Int J Neonatal Screen Subsets: PubMed not MEDLINE

Tan, Eric W; White, Amy L; Attar, Sarner; Petersen, Steven A

American Journal of Orthopedics (AM J ORTHOP), 2013 May; 42(5): 230-232. (3p)

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Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

White AL; Department of Medical Genetics, University of Wisconsin-Madison, 53705, USA.; Modaff P; Holland-Morris F; Pauli RM

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print Cited Medium: Print ISSN: 1552-4825 (Print) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE