부산대학교 도서관

Helbig, KL; Lauerer, RJ; Bahr, JC; Souza, IA; Myers, CT; Uysal, B; Schwarz, N; Gandini, MA; Huang, S; Keren, B; Mignot, C; Afenjar, A; de Villemeur, TB; Heron, D; Nava, C; Valence, S; Buratti, J; Fagerberg, CR; Soerensen, KP; Kibaek, M; Kamsteeg, EJ; Koolen, DA; Gunning, B; Schelhaas, HJ; Kruer, MC; Fox, J; Bakhtiari, S; Jarrar, R; Padilla-Lopez, S; Lindstrom, K; Jin, SC; Zeng, X; Bilguvar, K; Papavasileiou, A; Xin, QH; Zhu, CL; Boysen, K; Vairo, F; Lanpher, BC; Klee, EW; Tillema, JM; Payne, ET; Cousin, MA; Kruisselbrink, TM; Wick, MJ; Baker, J; Haan, E; Smith, N; Corbett, MA; MacLennan, AH; Gecz, J; Biskup, S; Goldmann, E; Rodan, LH; Kichula, E; Segal, E; Jackson, KE; Asamoah, A; Dimmock, D; McCarrier, J; Botto, LD; Filloux, F; Tvrdik, T; Cascino, GD; Klingerman, S; Neumann, C; Wang, R; Jacobsen, JC; Nolan, MA; Snell, RG; Lehnert, K; Sadleir, LG; Anderlid, BM; Kvarnung, M; Guerrini, R; Friez, MJ; Lyons, MJ; Leonhard, J; Kringlen, G; Casas, K; El Achkar, CM; Smith, LA; Rotenberg, A; Poduri, A; Sanchis-Juan, A; Carss, KJ; Rankin, J; Zeman, A; Raymond, FL; Blyth, M; Kerr, B; Ruiz, K; Urquhart, J; Hughes, I; Banka, S; Hedrich, UBS; Scheffer, IE; Helbig, I; Zamponi, GW; Lerche, H; Mefford, HC

American journal of human genetics. 103(5):666-678

Helbig, KL; Lauerer, RJ; Bahr, JC; Souza, IA; Myers, CT; Uysal, B; Schwarz, N; Gandini, MA; Huang, S; Keren, B; Mignot, C; Afenjar, A; de Villemeur, TB; Heron, D; Nava, C; Valence, S; Buratti, J; Fagerberg, CR; Soerensen, KP; Kibaek, M; Kamsteeg, EJ; Koolen, DA; Gunning, B; Schelhaas, HJ; Kruer, MC; Fox, J; Bakhtiari, S; Jarrar, R; Padilla-Lopez, S; Lindstrom, K; Jin, SC; Zeng, X; Bilguvar, K; Papavasileiou, A; Xing, QH; Zhu, CL; Boysen, K; Vairo, F; Lanpher, BC; Klee, EW; Tillema, JM; Payne, ET; Cousin, MA; Kruisselbrink, TM; Wick, MJ; Baker, J; Haan, E; Smith, N; Sadeghpour, A; Davis, EE; Katsanis, N; Corbett, MA; MacLennan, AH; Gecz, J; Biskup, S; Goldmann, E; Rodan, LH; Kichula, E; Segal, E; Jackson, KE; Asamoah, A; Dimmock, D; McCarrier, J; Botto, LD; Filloux, F; Tvrdik, T; Cascino, GD; Klingerman, S; Neumann, C; Wang, R; Jacobsen, JC; Nolan, MA; Snell, RG; Lehnert, K; Sadleir, LG; Anderlid, BM; Kvarnung, M; Guerrini, R; Friez, MJ; Lyons, MJ; Leonhard, J; Kringlen, G; Casas, K; El Achkar, CM; Smith, LA; Rotenberg, A; Poduri, A; Sanchis-Juan, A; Carss, KJ; Rankin, J; Zeman, A; Raymond, FL; Blyth, M; Kerr, B; Ruiz, K; Urquhart, J; Hughes, I; Banka, S; Hedrich, UBS; Scheffer, IE; Helbig, I; Zamponi, GW; Lerche, H; Mefford, HC

American journal of human genetics. 104(3):562-562

Ross, SC; Tribble, CG; Linden, J; Gangemi, JJ; Lanpher, BC; Wang, AY; Krone, IL

JOURNAL OF HEART AND LUNG TRANSPLANTATION; OCT 1999, 18 10, p994-p1002, 9p.

DIXON, KH; LANPHER, BC; CHIU, J; KELLEY, K; COWAN, KH

JOURNAL OF BIOLOGICAL CHEMISTRY; JAN 7 1994, 269 1, p17-p20, 4p.

Ferrer A; Division of Hematology, Mayo Clinic, Rochester, MN, USA.; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Duffy P; Bioinformatics Systems, Information Technology, Mayo Clinic, Rochester, MN, USA.; Olson RJ; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Meiners MA; Bioinformatics Systems, Information Technology, Mayo Clinic, Rochester, MN, USA.; Schultz-Rogers L; Department of Pathology and Lab Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Macke EL; The Institute of Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.; Safgren S; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Morales-Rosado JA; Department of Pathology, Microbiology and Immunology, Vanderbilt University Medical Center, Nashville, TN, USA.; Cousin MA; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Oliver GR; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Rider D; Bioinformatics Systems, Information Technology, Mayo Clinic, Rochester, MN, USA.; Williams M; Bioinformatics Systems, Information Technology, Mayo Clinic, Rochester, MN, USA.; Pichurin PN; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Deyle DR; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Morava E; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Gavrilova RH; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Dhamija R; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Wierenga KJ; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Lanpher BC; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Babovic-Vuksanovic D; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Kaiwar C; Children's Hospital Colorado, Aurora, CO, USA.; Vitek CR; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; McAllister TM; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Wick MJ; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Schimmenti LA; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Departments of Otorhinolaryngology, Head and Neck Surgery, Ophthalmology, and Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA.; Lazaridis KN; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Division of Gastroenterology and Hepatology, Mayo Clinic, Rochester, MN, USA.; Vairo FPE; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA. Klee.Eric@mayo.edu.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA. Klee.Eric@mayo.edu.

Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

Stegmann JD; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, 53127, Germany. jil.stegmann@uni-bonn.de.; Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, Bonn, 53115, Germany. jil.stegmann@uni-bonn.de.; Kalanithy JC; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, 53127, Germany.; Institute of Neuroanatomy, Medical Faculty, University of Bonn, Bonn, 53115, Germany.; Dworschak GC; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, 53127, Germany.; Institute of Neuroanatomy, Medical Faculty, University of Bonn, Bonn, 53115, Germany.; Department of Neuropediatrics, University Hospital Bonn, Bonn, 53127, Germany.; Ishorst N; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, 53127, Germany.; Institute of Neuroanatomy, Medical Faculty, University of Bonn, Bonn, 53115, Germany.; Mingardo E; Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, Bonn, 53115, Germany.; Lopes FM; Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology Medicine and Health, University of Manchester, Manchester, UK.; Ho YM; Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology Medicine and Health, University of Manchester, Manchester, UK.; Grote P; Georg-Speyer-Haus, Institute for Tumor Biology and Experimental Therapy, 60596, Frankfurt am Main, Germany.; Lindenberg TT; Institute of Neuroanatomy, Medical Faculty, University of Bonn, Bonn, 53115, Germany.; Yilmaz Ö; Institute of Neuroanatomy, Medical Faculty, University of Bonn, Bonn, 53115, Germany.; Channab K; Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, Bonn, 53115, Germany.; Seltzsam S; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Shril S; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Hildebrandt F; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Boschann F; Institute of Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.; Heinen A; Department of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.; Jolly A; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Medical Scientist Training Program, Baylor College of Medicine, Houston, TX, USA.; Myers K; Center for Cardiovascular Research, Nationwide Children's Hospital, Department of Pediatrics, Ohio State University, Columbus, OH, USA.; McBride K; Center for Cardiovascular Research, Nationwide Children's Hospital, Department of Pediatrics, Ohio State University, Columbus, OH, USA.; Bekheirnia MR; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Pediatrics, Renal Service, Texas Children's Hospital, Houston, TX, 77030, USA.; Bekheirnia N; Department of Pediatrics, Renal Service, Texas Children's Hospital, Houston, TX, 77030, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.; Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16132, Genoa, Italy.; U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy.; Morleo M; Medical Genetics, Department of Precision Medicine, Università degli Studi della Campania 'Luigi Vanvitelli', via Luigi De Crecchio 7, 80138, Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.; Nigro V; Medical Genetics, Department of Precision Medicine, Università degli Studi della Campania 'Luigi Vanvitelli', via Luigi De Crecchio 7, 80138, Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.; Torella A; Medical Genetics, Department of Precision Medicine, Università degli Studi della Campania 'Luigi Vanvitelli', via Luigi De Crecchio 7, 80138, Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.; Pinelli M; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.; Department of Molecular Medicine and Medical Biotechnologies, University Federico II, Naples, Italy.; Capra V; Genomics and Clinical Genetics, IRCCS Gaslini, Genoa, Italy.; Accogli A; Division of Medical Genetics, Department of Specialized Medicine, McGill University, Montreal, QC, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada.; Maitz S; Medical Genetics Service, Oncology Department of Southern Switzerland, Ente Ospedaliero Cantonale, Lugano, Switzerland.; Spano A; MBBM Foundation, Monza, Italy.; Olson RJ; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.; Lanpher BC; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Jang SS; Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea.; Chae JH; Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea.; Department of Genomics Medicine, Rare Disease Center, Seoul National University Hospital, Seoul, Republic of Korea.; Steinbauer P; Division of Neonatology, Pediatric Intensive Care and Neuropediatrics, Comprehensive Center for Pediatrics, Medical University of Vienna, Vienna, Austria.; Rieder D; Division of Bioinformatics, Medical University of Innsbruck, 6020, Innsbruck, Austria.; Janecke AR; Department of Pediatrics I, Medical University of Innsbruck, 6020, Innsbruck, Austria.; Division of Human Genetics, Medical University of Innsbruck, 6020, Innsbruck, Austria.; Vodopiutz J; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Pulmonology, Allergology and Endocrinology, Comprehensive Center for Pediatrics, Medical University of Vienna, 1090, Vienna, Austria.; Vogel I; Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.; Blechingberg J; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.; Cohen JL; Division of Medical Genetics, Department of Pediatrics, Duke University, Durham, NC, USA.; Riley K; Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.; Klee V; Pediatric Neurology, Riley Hospital for Children Indiana University Health, Indianapolis, IN, USA.; Walsh LE; Pediatric Neurology, Riley Hospital for Children Indiana University Health, Indianapolis, IN, USA.; Begemann M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.; Elbracht M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.; Eggermann T; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.; Stoppe A; Division of Neuropediatrics and Social Pediatrics, Department of Pediatrics, Medical Faculty, RWTH Aachen University, 52074, Aachen, Germany.; Stuurman K; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; van Slegtenhorst M; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Mulhern MS; Department of Neurology, Columbia University Vagelos College of Physicians and Surgeons, New York, NY, USA.; Department of Pathology, Columbia University Vagelos College of Physicians and Surgeons, New York, NY, USA.; Sands TT; Division of Child Neurology, Department of Neurology, Columbia University Vagelos College of Physicians and Surgeons and NewYork-Presbyterian Morgan Stanley Children's Hospital, New York, NY, USA.; Department of Pediatrics, Columbia University Vagelos College of Physicians and Surgeons and NewYork-Presbyterian Morgan Stanley Children's Hospital, New York, NY, USA.; Institute for Genomic Medicine, Columbia University Vagelos College of Physicians and Surgeons, New York, NY, USA.; Cytrynbaum C; Department of Genetic Counselling, The Hospital for Sick Children, Toronto, ON, M5G 1X8, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, M5S 1A1, Canada.; Weksberg R; Department of Molecular Genetics, University of Toronto, Toronto, ON, M5S 1A1, Canada.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, M5G 1X8, Canada.; Isidori F; U.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.; Pippucci T; U.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.; Severi G; U.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.; Montanari F; U.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.; Kruer MC; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA.; Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA.; Darvish H; Neuroscience Research Center, Faculty of Medicine, Golestan University of Medical Sciences, Gorgan, Iran.; Reutter H; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, 53127, Germany.; Division Neonatology and Pediatric Intensive Care, Department of Pediatric and Adolescent Medicine, Friedrich-Alexander University of Erlangen-Nürnberg, Erlangen, Germany.; Institute of Human Genetics, Friedrich-Alexander University of Erlangen-Nürnberg, Erlangen, Germany.; Hagelueken G; Institute of Structural Biology, University Hospital Bonn, University of Bonn, Venusberg-Campus 1, 53127, Bonn, Germany.; Geyer M; Institute of Structural Biology, University Hospital Bonn, University of Bonn, Venusberg-Campus 1, 53127, Bonn, Germany.; Woolf AS; Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology Medicine and Health, University of Manchester, Manchester, UK.; Royal Manchester Children's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.; Posey JE; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Lupski JR; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.; Texas Children's Hospital, Houston, TX, 77030, USA.; Odermatt B; Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, Bonn, 53115, Germany.; Institute of Neuroanatomy, Medical Faculty, University of Bonn, Bonn, 53115, Germany.; Hilger AC; Department of Pediatric and Adolescent Medicine, Friedrich-Alexander University of Erlangen-Nürnberg, Erlangen, 91054, Germany. alina.hilger@uk-erlangen.de.; Research Center On Rare Kidney Diseases (RECORD), University Hospital Erlangen, 91054, Erlangen, Germany. alina.hilger@uk-erlangen.de.

Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE

Pillai NR; Division of Genetics and Metabolism, Department of Pediatrics, University of Minnesota, MN, USA. Electronic address: Pilla125@umn.edu.; Fabie NAV; Department of Genetics and Genomic Medicine, Children's Minnesota, MN, USA.; Kaye TV; Minnesota Department of Health (MDH), Public Health Laboratory, Newborn Screening, MN, USA.; Rosendahl SD; Minnesota Department of Health (MDH), Public Health Laboratory, Newborn Screening, MN, USA.; Ahmed A; Division of Genetics and Metabolism, Department of Pediatrics, University of Minnesota, MN, USA.; Hietala AD; Minnesota Department of Health (MDH), Public Health Laboratory, Newborn Screening, MN, USA.; Jorgenson AB; Children's Research Institute, Children's Minnesota, MN, USA.; Lanpher BC; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Whitley CB; Division of Genetics and Metabolism, Department of Pediatrics, University of Minnesota, MN, USA.

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

Klee EW; Cousin MA; Pinto E Vairo F; Morales-Rosado JA; Macke EL; Jenkinson WG; Ferrer A; Schultz-Rogers LE; Olson RJ; Oliver GR; Sigafoos AN; Schwab TL; Zimmermann MT; Urrutia RA; Kaiwar C; Gupta A; Blackburn PR; Boczek NJ; Prochnow CA; Lowy RJ; Mulvihill LA; McAllister TM; Aoudia SL; Kruisselbrink TM; Gunderson LB; Kemppainen JL; Fisher LJ; Tarnowski JM; Hager MM; Kroc SA; Bertsch NL; Agre KE; Jackson JL; Macklin-Mantia SK; Murphree MI; Rust LM; Summer Bolster JM; Beck SA; Atwal PS; Ellingson MS; Barnett SS; Rasmussen KJ; Lahner CA; Niu Z; Hasadsri L; Ferber MJ; Marcou CA; Clark KJ; Pichurin PN; Deyle DR; Morava-Kozicz E; Gavrilova RH; Dhamija R; Wierenga KJ; Lanpher BC; Babovic-Vuksanovic D; Farrugia G; Schimmenti LA; Stewart AK; Lazaridis KN

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: PubMed not MEDLINE; MEDLINE

Asumda FZ; Department of Pediatrics and Pathology, Medical College of Georgia - Augusta University Medical Center, Augusta, GA, USA.; Kraker JA; Department of Ophthalmology, Mayo Clinic, Rochester, MN, USA.; Thomas SC; Department of Pathology, Mayo Clinic, Rochester, MN, USA.; Maleszewski J; Department of Pathology, Mayo Clinic, Rochester, MN, USA.; Stone EM; Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA, USA.; Lanpher BC; Department of Clinical Genetics, Mayo Clinic, Rochester, MN, USA.; Schimmenti LA; Department of Clinical Genetics, Mayo Clinic, 201 1st St SW, Rochester, MN 55905, USA.; Department of Otorhinolaryngology - Head and Neck Surgery, Mayo Clinic, Rochester, MN, USA.; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA.; Department of Ophthalmology, Mayo Clinic, Rochester, MN, USA.

Publisher: Sage Country of Publication: England NLM ID: 9918557474706676 Publication Model: eCollection Cited Medium: Internet ISSN: 2633-0040 (Electronic) Linking ISSN: 26330040 NLM ISO Abbreviation: Ther Adv Rare Dis Subsets: PubMed not MEDLINE

Thompson WS; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.; Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, Minnesota, USA.; Bendel-Stenzel EM; Division of Neonatal Medicine, Mayo Clinic, Rochester, Minnesota, USA.; Lanpher BC; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA.; Arteaga GM; Division of Pediatric Critical Care Medicine, Mayo Clinic, Rochester, Minnesota, USA.; Stetson RC; Division of Neonatal Medicine, Mayo Clinic, Rochester, Minnesota, USA.; Mavis SC; Division of Neonatal Medicine, Mayo Clinic, Rochester, Minnesota, USA.

Publisher: Karger Country of Publication: Switzerland NLM ID: 101286577 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1661-7819 (Electronic) Linking ISSN: 16617800 NLM ISO Abbreviation: Neonatology Subsets: MEDLINE