Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Pfau RB"'
Autor:
Koo SC; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Department of Pathology, The Ohio State University, Columbus, Ohio, USA., Schieffer KM; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA., Lee K; Department of Pathology, The Ohio State University, Columbus, Ohio, USA.; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Department of Pediatrics, The Ohio State University, Columbus, Ohio, USA., Gupta A; Department of Hematology, Oncology, and BMT, Nationwide Children's Hospital, Columbus, Ohio, USA., Pfau RB; Department of Pathology, The Ohio State University, Columbus, Ohio, USA.; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA., Avenarius MR, Stonerock E; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA., LaHaye S; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA., Fitch J; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA., Setty BA; Department of Hematology, Oncology, and BMT, Nationwide Children's Hospital, Columbus, Ohio, USA., Roberts R; Department of Hematology, Oncology, and BMT, Nationwide Children's Hospital, Columbus, Ohio, USA., Ranalli M; Department of Hematology, Oncology, and BMT, Nationwide Children's Hospital, Columbus, Ohio, USA., Conces MR; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Department of Pathology, The Ohio State University, Columbus, Ohio, USA., Bu F; Department of Pathology, The Ohio State University, Columbus, Ohio, USA.; Department of Pediatrics, The Ohio State University, Columbus, Ohio, USA., Mardis ER; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Department of Pediatrics, The Ohio State University, Columbus, Ohio, USA., Cottrell CE; Department of Pathology, The Ohio State University, Columbus, Ohio, USA.; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Department of Pediatrics, The Ohio State University, Columbus, Ohio, USA.
Publikováno v:
Genes, chromosomes & cancer [Genes Chromosomes Cancer] 2023 Jan; Vol. 62 (1), pp. 17-26. Date of Electronic Publication: 2022 Jul 25.
Autor:
Abreu NJ; Center for Gene Therapy The Abigail Wexner Research Institute of Nationwide Children's Hospital Columbus Ohio USA.; Division of Neurology Nationwide Children's Hospital Columbus Ohio USA., Siemon AE; Division of Genetic & Genomic Medicine Nationwide Children's Hospital Columbus Ohio USA., Baylis AL; Department of Plastic and Reconstructive Surgery Nationwide Children's Hospital Columbus Ohio USA.; Department of Pediatrics The Ohio State University College of Medicine Columbus Ohio USA.; Department of Plastic and Reconstructive Surgery The Ohio State University College of Medicine Columbus Ohio USA.; Department of Speech and Hearing Science The Ohio State University College of Arts and Sciences Columbus Ohio USA., Kirschner RE; Department of Plastic and Reconstructive Surgery Nationwide Children's Hospital Columbus Ohio USA.; Department of Pediatrics The Ohio State University College of Medicine Columbus Ohio USA.; Department of Plastic and Reconstructive Surgery The Ohio State University College of Medicine Columbus Ohio USA., Pfau RB; Department of Pediatrics The Ohio State University College of Medicine Columbus Ohio USA.; The Steve and Cindy Rasmussen Institute for Genomic Medicine The Abigail Wexner Research Institute of Nationwide Children's Hospital Columbus Ohio USA.; Department of Pathology The Ohio State University College of Medicine Columbus Ohio USA., Ho ML; Department of Radiology Nationwide Children's Hospital Columbus Ohio USA.; Department of Radiology The Ohio State University College of Medicine Columbus Ohio USA., Hickey SE; Division of Genetic & Genomic Medicine Nationwide Children's Hospital Columbus Ohio USA.; Department of Pediatrics The Ohio State University College of Medicine Columbus Ohio USA., Truxal KV; Division of Genetic & Genomic Medicine Nationwide Children's Hospital Columbus Ohio USA.; Department of Pediatrics The Ohio State University College of Medicine Columbus Ohio USA.
Publikováno v:
Clinical case reports [Clin Case Rep] 2022 Feb 11; Vol. 10 (2), pp. e05277. Date of Electronic Publication: 2022 Feb 11 (Print Publication: 2022).
Autor:
Melas M; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA., Kautto EA; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA., Franklin SJ; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA., Mori M; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Department of Pediatrics, The Ohio State University, Columbus, Ohio, USA., McBride KL; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Department of Pediatrics, The Ohio State University, Columbus, Ohio, USA.; Center for Cardiovascular Research, The Research Institute at Nationwide Children's Hospital, Columbus, Ohio, USA., Mosher TM; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Department of Pediatrics, The Ohio State University, Columbus, Ohio, USA., Pfau RB; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Department of Pediatrics, The Ohio State University, Columbus, Ohio, USA.; Department of Pathology, The Ohio State University, Columbus, Ohio, USA., Hernandez-Gonzalez ME; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA., McGrath SD; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA., Magrini VJ; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Department of Pediatrics, The Ohio State University, Columbus, Ohio, USA., White P; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Department of Pediatrics, The Ohio State University, Columbus, Ohio, USA., Samora JB; Department of Orthopedic Surgery, Nationwide Children's Hospital, Columbus, Ohio, USA., Koboldt DC; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Department of Pediatrics, The Ohio State University, Columbus, Ohio, USA., Wilson RK; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Department of Pediatrics, The Ohio State University, Columbus, Ohio, USA.
Publikováno v:
Human mutation [Hum Mutat] 2022 Feb; Vol. 43 (2), pp. 189-199. Date of Electronic Publication: 2021 Dec 16.
Autor:
Avenarius MR; Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio., Miller CR; Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio; Department of Pathology, Wexner Medical Center, The Ohio State University, Columbus, Ohio., Arnold MA; Department of Pathology, Wexner Medical Center, The Ohio State University, Columbus, Ohio; Department of Pathology, Nationwide Children's Hospital, Columbus, Ohio., Koo S; Department of Pathology, Wexner Medical Center, The Ohio State University, Columbus, Ohio; Department of Pathology, Nationwide Children's Hospital, Columbus, Ohio., Roberts R; Department of Hematology and Oncology, Nationwide Children's Hospital, Columbus, Ohio., Hobby M; Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio., Grossman T; Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio., Moyer Y; Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio., Wilson RK; Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio; Department of Pediatrics, Wexner Medical Center, The Ohio State University, Columbus, Ohio., Mardis ER; Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio; Department of Pediatrics, Wexner Medical Center, The Ohio State University, Columbus, Ohio., Gastier-Foster JM; Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio; Department of Pediatrics, Wexner Medical Center, The Ohio State University, Columbus, Ohio., Pfau RB; Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio; Department of Pathology, Wexner Medical Center, The Ohio State University, Columbus, Ohio. Electronic address: ruthann.pfau@nationwidechildrens.org.
Publikováno v:
The Journal of molecular diagnostics : JMD [J Mol Diagn] 2020 Oct; Vol. 22 (10), pp. 1238-1245. Date of Electronic Publication: 2020 Aug 01.
Autor:
Miller CR; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.; Department of Pathology., Lee K; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.; Department of Pathology., Pfau RB; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.; Department of Pathology.; Department of Pediatrics, The Ohio State University, Columbus, Ohio 43210, USA., Reshmi SC; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.; Department of Pathology.; Department of Pediatrics, The Ohio State University, Columbus, Ohio 43210, USA., Corsmeier DJ; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA., Hashimoto S; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA., Dave-Wala A; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA., Jayaraman V; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA., Koboldt D; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.; Department of Pediatrics, The Ohio State University, Columbus, Ohio 43210, USA., Matthews T; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA., Mouhlas D; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA., Stein M; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA., McKinney A; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA., Grossman T; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA., Kelly BJ; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA., White P; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.; Department of Pediatrics, The Ohio State University, Columbus, Ohio 43210, USA., Magrini V; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.; Department of Pediatrics, The Ohio State University, Columbus, Ohio 43210, USA., Wilson RK; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.; Department of Pediatrics, The Ohio State University, Columbus, Ohio 43210, USA., Mardis ER; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.; Department of Pediatrics, The Ohio State University, Columbus, Ohio 43210, USA., Cottrell CE; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.; Department of Pathology.; Department of Pediatrics, The Ohio State University, Columbus, Ohio 43210, USA.
Publikováno v:
Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2020 Jun 12; Vol. 6 (3). Date of Electronic Publication: 2020 Jun 12 (Print Publication: 2020).
Autor:
Lee WY; Department of Pathology, Michigan Medicine, University of Michigan, Ann Arbor, Michigan 48109-2800, USA., Pfau RB; Institute of Genomic Medicine, Nationwide Children's Hospital and Department of Pathology, the Ohio State University, Columbus, Ohio 43205-2664, USA., Choi SM; Department of Pathology, Michigan Medicine, University of Michigan, Ann Arbor, Michigan 48109-2800, USA., Yang J; Department of Pathology, Michigan Medicine, University of Michigan, Ann Arbor, Michigan 48109-2800, USA., Xiao H; Department of Pathology, Michigan Medicine, University of Michigan, Ann Arbor, Michigan 48109-2800, USA., Putnam EM; Department of Pathology, Michigan Medicine, University of Michigan, Ann Arbor, Michigan 48109-2800, USA., Ryan RJ; Department of Pathology, Michigan Medicine, University of Michigan, Ann Arbor, Michigan 48109-2800, USA., Bixby DL; Division of Hematology and Medical Oncology, Department of Internal Medicine, Michigan Medicine, University of Michigan, Ann Arbor, Michigan 48109-2800, USA., Shao L; Department of Pathology, Michigan Medicine, University of Michigan, Ann Arbor, Michigan 48109-2800, USA.
Publikováno v:
Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2020 Apr 01; Vol. 6 (2). Date of Electronic Publication: 2020 Apr 01 (Print Publication: 2020).
Autor:
Barrie ES; The Institute for Genomic Medicine at Nationwide Children's Hospital, Columbus, Ohio 43215, USA., Alfaro MP; The Institute for Genomic Medicine at Nationwide Children's Hospital, Columbus, Ohio 43215, USA.; Department of Pathology, The Ohio State University College of Medicine, Columbus, Ohio 43210, USA., Pfau RB; The Institute for Genomic Medicine at Nationwide Children's Hospital, Columbus, Ohio 43215, USA.; Department of Pathology, The Ohio State University College of Medicine, Columbus, Ohio 43210, USA., Goff MJ; Division of Genetic and Genomic Medicine., McBride KL; Division of Genetic and Genomic Medicine.; Center for Cardiovascular Research, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio 43210, USA., Manickam K; Division of Genetic and Genomic Medicine.; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio 43210, USA., Zmuda EJ; The Institute for Genomic Medicine at Nationwide Children's Hospital, Columbus, Ohio 43215, USA.; Department of Pathology, The Ohio State University College of Medicine, Columbus, Ohio 43210, USA.
Publikováno v:
Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2019 Aug 01; Vol. 5 (4). Date of Electronic Publication: 2019 Aug 01 (Print Publication: 2019).
Autor:
Pfau RB; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA., Thrush DL, Hamelberg E, Bartholomew D, Botes S, Pastore M, Tan C, del Gaudio D, Gastier-Foster JM, Astbury C
Publikováno v:
European journal of medical genetics [Eur J Med Genet] 2013 Nov; Vol. 56 (11), pp. 609-13. Date of Electronic Publication: 2013 Sep 27.
Autor:
Hickey SE; Section of Human and Molecular Genetics, Nationwide Children's Hospital, Columbus, Ohio, USA., Walters-Sen L, Mosher TM, Pfau RB, Pyatt R, Snyder PJ, Sotos JF, Prior TW
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2013 Sep; Vol. 161A (9), pp. 2294-9. Date of Electronic Publication: 2013 Jul 29.
Autor:
Harrison TA; Genetic Services Section, Washington State Department of Health, 20435 72nd Ave S, Suite 200, Kent, WA 98032, USA. Tabitha.Harrison@doh.wa.gov, Doyle DL, McGowan C, Cohen L, Repass E, Pfau RB, Brown T
Publikováno v:
Journal of genetic counseling [J Genet Couns] 2010 Feb; Vol. 19 (1), pp. 38-43. Date of Electronic Publication: 2009 Oct 07.