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    Wyświetlanie 1-7 z 7
    Tytuł:
    Pediatric spinal ependymoma with chromothripsis of chromosome 6: a case report and review of the literature.
    Autorzy:
    Scott KR; Department of Pathology & Anatomical Sciences, University of Missouri-Columbia, 1 Hospital Drive M263, MSB, Columbia, MO, 65212, USA. .
    Gener MA; Department of Pathology & Laboratory Medicine Children's Mercy Kansas City, University of Missouri-Kansas City School of Medicine, Kansas City, MO, 64108, USA.
    Repnikova EA; Department of Pathology & Laboratory Medicine Children's Mercy Kansas City, University of Missouri-Kansas City School of Medicine, Kansas City, MO, 64108, USA.
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    Źródło:
    Journal of medical case reports [J Med Case Rep] 2024 Feb 14; Vol. 18 (1), pp. 95. Date of Electronic Publication: 2024 Feb 14.
    Typ publikacji:
    Review; Case Reports; Journal Article
    MeSH Terms:
    Chromothripsis*
    Spinal Cord Neoplasms*/diagnosis
    Spinal Cord Neoplasms*/genetics
    Spinal Cord Neoplasms*/pathology
    Ependymoma*/diagnosis
    Ependymoma*/genetics
    Ependymoma*/pathology
    Meningeal Neoplasms*
    Adult ; Humans ; Child ; Female ; Adolescent ; Chromosomes, Human, Pair 6 ; In Situ Hybridization, Fluorescence
    SCR Disease Name:
    Familial ependymoma
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.
    Autorzy:
    Mullegama SV; Department of Human and Molecular Genetics, Virginia Commonwealth University School of Medicine, Richmond, VA, USA.
    Rosenfeld JA; Signature Genomic Laboratories, PerkinElmer Inc., Spokane, WA, USA.
    Orellana C; Service of Genetics and Prenatal Diagnosis, University and Polytechnic Hospital La Fe, Valencia, Spain.
    van Bon BW; Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.
    Halbach S; Department of Human Genetics, University of Chicago, Chicago, IL, USA.
    Repnikova EA; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA.
    Brick L; Department of Pediatrics, Clinical Genetics Program, McMaster University Medical Center and McMaster Children's Hospital, Hamilton, Ontario, Canada.
    Li C; Department of Pediatrics, Clinical Genetics Program, McMaster University Medical Center and McMaster Children's Hospital, Hamilton, Ontario, Canada.
    Dupuis L; Department of Pediatrics, Division of Clinical and Metabolic Genetics, Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.
    Rosello M; Service of Genetics and Prenatal Diagnosis, University and Polytechnic Hospital La Fe, Valencia, Spain.
    Aradhya S; GeneDx, Gaithersburg, MD, USA.
    Stavropoulos DJ; 1] Cytogenetics Laboratory, Department of Pediatric Laboratory Medicine, Hospital for Sick Children, Toronto, Ontario, Canada [2] Department of Laboratory Medicine and Pathology, University of Toronto, Toronto, Ontario, Canada.
    Manickam K; Department of Pediatrics, Nationwide Children's Hospital, Columbus, OH, USA.
    Mitchell E; 1] Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA [2] Department of Medical Genetics, Mayo Clinic, Rochester, MN, USA.
    Hodge JC; 1] Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA [2] Department of Medical Genetics, Mayo Clinic, Rochester, MN, USA.
    Talkowski ME; 1] Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA, USA [2] Program in Medical and Population Genetics, Broad Institute of Harvard and M.I.T., Cambridge, MA, USA [3] Departments of Genetics and Neurology, Harvard Medical School, Cambridge, MA, USA.
    Gusella JF; 1] Program in Medical and Population Genetics, Broad Institute of Harvard and M.I.T., Cambridge, MA, USA [2] Departments of Genetics and Neurology, Harvard Medical School, Cambridge, MA, USA [3] Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA, USA.
    Keller K; Department of Molecular and Medical Genetics, Child Development and Rehabilitation Center, Oregon Health and Science University, Portland, OR, USA.
    Zonana J; Department of Molecular and Medical Genetics, Child Development and Rehabilitation Center, Oregon Health and Science University, Portland, OR, USA.
    Schwartz S; Laboratory Corporation of America, Research Triangle Park, Durham, NC, USA.
    Pyatt RE; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA.
    Waggoner DJ; Department of Human Genetics, University of Chicago, Chicago, IL, USA.
    Shaffer LG; Paw Print Genetics, Genetic Veterinary Sciences, Inc., Spokane, WA, USA.
    Lin AE; 1] Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA, USA [2] Medical Genetics, Massachusetts General Hospital for Children, Boston, MA, USA.
    de Vries BB; Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.
    Mendoza-Londono R; Department of Pediatrics, Division of Clinical and Metabolic Genetics, Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.
    Elsea SH; 1] Department of Human and Molecular Genetics, Virginia Commonwealth University School of Medicine, Richmond, VA, USA [2] Department of Pediatrics, Virginia Commonwealth University School of Medicine, Richmond, VA, USA [3] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
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    Źródło:
    European journal of human genetics : EJHG [Eur J Hum Genet] 2014 Jan; Vol. 22 (1), pp. 57-63. Date of Electronic Publication: 2013 May 01.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Child Development Disorders, Pervasive/*genetics
    DNA-Binding Proteins/*genetics
    Developmental Disabilities/*genetics
    Trisomy/*genetics
    Adolescent ; Child ; Child Development Disorders, Pervasive/etiology ; Child Development Disorders, Pervasive/pathology ; Child, Preschool ; Chromosome Deletion ; Chromosomes, Human, Pair 2/genetics ; Comparative Genomic Hybridization ; Developmental Disabilities/etiology ; Developmental Disabilities/pathology ; Epigenesis, Genetic ; Female ; Gene Dosage ; Humans ; Infant ; Male
    SCR Disease Name:
    Chromosome 2, trisomy 2q
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
      Wyświetlanie 1-7 z 7

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