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    Wyświetlanie 1-20 z 20
    Tytuł:
    KMT2C/D COMPASS complex-associated diseases [K CD COM-ADs]: an emerging class of congenital regulopathies.
    Autorzy:
    Lavery WJ; Division of Allergy and Immunology, Cincinnati Children's Hospital Medical Center (CCHMC), 3333 Burnet Avenue, Cincinnati, OH, 45229-3026, USA.
    Barski A; Division of Allergy and Immunology, Cincinnati Children's Hospital Medical Center (CCHMC), 3333 Burnet Avenue, Cincinnati, OH, 45229-3026, USA.; Division of Human Genetics, CCHMC, Cincinnati, OH, USA.
    Wiley S; Division of Developmental and Behavioral Pediatrics, CCHMC, Cincinnati, OH, USA.
    Schorry EK; Division of Human Genetics, CCHMC, Cincinnati, OH, USA.
    Lindsley AW; Division of Allergy and Immunology, Cincinnati Children's Hospital Medical Center (CCHMC), 3333 Burnet Avenue, Cincinnati, OH, 45229-3026, USA. .
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    Źródło:
    Clinical epigenetics [Clin Epigenetics] 2020 Jan 10; Vol. 12 (1), pp. 10. Date of Electronic Publication: 2020 Jan 10.
    Typ publikacji:
    Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review
    MeSH Terms:
    Abnormalities, Multiple/*genetics
    Craniofacial Abnormalities/*genetics
    DNA-Binding Proteins/*genetics
    Face/*abnormalities
    Heart Defects, Congenital/*genetics
    Hematologic Diseases/*genetics
    Intellectual Disability/*genetics
    Neoplasm Proteins/*genetics
    Rubinstein-Taybi Syndrome/*genetics
    Vestibular Diseases/*genetics
    Abnormalities, Multiple/diagnosis ; Chromosome Deletion ; Chromosomes, Human, Pair 9/genetics ; Craniofacial Abnormalities/diagnosis ; DNA-Binding Proteins/metabolism ; Female ; Heart Defects, Congenital/diagnosis ; Hematologic Diseases/diagnosis ; Humans ; Intellectual Disability/diagnosis ; Male ; Neoplasm Proteins/metabolism ; Phenotype ; Rubinstein-Taybi Syndrome/diagnosis ; Vestibular Diseases/diagnosis
    SCR Disease Name:
    Kabuki syndrome; Kleefstra Syndrome
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Reproducibility of cognitive endpoints in clinical trials: lessons from neurofibromatosis type 1.
    Autorzy:
    Payne JM; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.; Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, Victoria, Australia.
    Hearps SJC; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.
    Walsh KS; Center for Neuroscience and Behavioral Medicine, Children's National Health System, Washington, DC.
    Paltin I; Division of Oncology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
    Barton B; Kids Neuroscience Centre, The Children's Hospital at Westmead, Westmead, New South Wales, Australia.; Children's Hospital Education Research Institute, The Children's Hospital at Westmead, Westmead, New South Wales, Australia.; The University of Sydney Children's Hospital Westmead Clinical School, University of Sydney, Westmead, New South Wales, Australia.
    Ullrich NJ; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.
    Haebich KM; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.
    Coghill D; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.; Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, Victoria, Australia.
    Gioia GA; Center for Neuroscience and Behavioral Medicine, Children's National Health System, Washington, DC.
    Cantor A; Department of Preventative Medicine, University of Alabama at Birmingham, Birmingham, Alabama.
    Cutter G; School of Public Health, University of Alabama at Birmingham, Birmingham, Alabama.
    Tonsgard JH; Division of Neurology, The University of Chicago Medicine Comer Children's Hospital, Chicago, Illinois.
    Viskochil D; Department of Genetics, University of Utah, Salt Lake City, Utah.
    Rey-Casserly C; Center for Neuropsychology, Boston Children's Hospital, Boston, Massachusetts.
    Schorry EK; Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
    Ackerson JD; Department of Psychology, University of Alabama at Birmingham, Birmingham, Alabama.
    Klesse L; Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas.
    Fisher MJ; Division of Oncology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
    Gutmann DH; Department of Neurology, Washington University School of Medicine, St Louis, Missouri.
    Rosser T; Department of Neurology, Children's Hospital of Los Angeles, Los Angeles, California.
    Packer RJ; Center for Neuroscience and Behavioral Medicine, Children's National Health System, Washington, DC.
    Korf B; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama.
    Acosta MT; Center for Neuroscience and Behavioral Medicine, Children's National Health System, Washington, DC.; National Institutes of Health, National Human Genome Research Institute, Bethesda, Maryland.
    North KN; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.; Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, Victoria, Australia.
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    Corporate Authors:
    NF Clinical Trials Consortium
    Źródło:
    Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2019 Dec; Vol. 6 (12), pp. 2555-2565. Date of Electronic Publication: 2019 Dec 03.
    Typ publikacji:
    Clinical Trial, Phase II; Journal Article; Multicenter Study; Randomized Controlled Trial; Research Support, U.S. Gov't, Non-P.H.S.
    MeSH Terms:
    Neurofibromatosis 1*/complications
    Neurofibromatosis 1*/drug therapy
    Reproducibility of Results*
    Clinical Trials as Topic/*standards
    Cognitive Dysfunction/*diagnosis
    Outcome Assessment, Health Care/*standards
    Adolescent ; Biomarkers ; Child ; Cognitive Dysfunction/drug therapy ; Cognitive Dysfunction/etiology ; Double-Blind Method ; Female ; Humans ; Hydroxymethylglutaryl-CoA Reductase Inhibitors/pharmacology ; Lovastatin/pharmacology ; Male
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.
    Autorzy:
    Abrams AJ; 1] John P. Hussman Institute for Human Genomics, Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, USA. [2] Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, USA. [3] Department of Biology, University of Miami, Coral Gables, Florida, USA.
    Hufnagel RB; Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, Ohio, USA.
    Rebelo A; 1] John P. Hussman Institute for Human Genomics, Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, USA. [2] Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, USA.
    Zanna C; 1] Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Istituto delle Scienze Neurologiche di Bologna, Ospedale Bellaria, Bologna, Italy. [2] Neurology Unit, Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.
    Patel N; Department of Biology, University of Miami, Coral Gables, Florida, USA.
    Gonzalez MA; 1] John P. Hussman Institute for Human Genomics, Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, USA. [2] Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, USA.
    Campeanu IJ; Department of Biology, University of Miami, Coral Gables, Florida, USA.
    Griffin LB; 1] Cellular and Molecular Biology Program, University of Michigan, Ann Arbor, Michigan, USA. [2] Medical Scientist Training Program, University of Michigan, Ann Arbor, Michigan, USA.
    Groenewald S; Department of Biology, University of Miami, Coral Gables, Florida, USA.
    Strickland AV; 1] John P. Hussman Institute for Human Genomics, Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, USA. [2] Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, USA.
    Tao F; 1] John P. Hussman Institute for Human Genomics, Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, USA. [2] Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, USA.
    Speziani F; 1] John P. Hussman Institute for Human Genomics, Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, USA. [2] Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, USA.
    Abreu L; 1] John P. Hussman Institute for Human Genomics, Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, USA. [2] Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, USA.
    Schüle R; 1] John P. Hussman Institute for Human Genomics, Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, USA. [2] Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, USA. [3] Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany. [4] German Research Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
    Caporali L; Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Istituto delle Scienze Neurologiche di Bologna, Ospedale Bellaria, Bologna, Italy.
    La Morgia C; 1] Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Istituto delle Scienze Neurologiche di Bologna, Ospedale Bellaria, Bologna, Italy. [2] Neurology Unit, Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.
    Maresca A; 1] Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Istituto delle Scienze Neurologiche di Bologna, Ospedale Bellaria, Bologna, Italy. [2] Neurology Unit, Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.
    Liguori R; 1] Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Istituto delle Scienze Neurologiche di Bologna, Ospedale Bellaria, Bologna, Italy. [2] Neurology Unit, Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.
    Lodi R; Policlinico S. Orsola-Malpighi Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.
    Ahmed ZM; Department of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, Maryland, USA.
    Sund KL; Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, Ohio, USA.
    Wang X; Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, Ohio, USA.
    Krueger LA; Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, Ohio, USA.
    Peng Y; Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, Ohio, USA.
    Prada CE; Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, Ohio, USA.
    Prows CA; Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, Ohio, USA.
    Schorry EK; Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, Ohio, USA.
    Antonellis A; 1] Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan, USA. [2] Department of Neurology, University of Michigan Medical School, Ann Arbor, Michigan, USA.
    Zimmerman HH; Department of Pediatrics, Division of Medical Genetics, University of Mississippi Medical Center, Jackson, Mississippi, USA.
    Abdul-Rahman OA; Department of Pediatrics, Division of Medical Genetics, University of Mississippi Medical Center, Jackson, Mississippi, USA.
    Yang Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
    Downes SM; 1] Nuffield Department of Clinical Neuroscience, University of Oxford, John Radcliffe Hospital, Oxford, UK. [2] Oxford Eye Hospital National Health Service (NHS) Trust, Oxford, UK.
    Prince J; Department of Biology, University of Miami, Coral Gables, Florida, USA.
    Fontanesi F; Department of Biochemistry and Molecular Biology, University of Miami, Miami, Florida, USA.
    Barrientos A; 1] Department of Biochemistry and Molecular Biology, University of Miami, Miami, Florida, USA. [2] Department of Neurology, University of Miami, Miami, Florida, USA.
    Németh AH; 1] Nuffield Department of Clinical Neuroscience, University of Oxford, John Radcliffe Hospital, Oxford, UK. [2] Department of Clinical Genetics, Oxford University Hospitals NHS Trust, Oxford, UK.
    Carelli V; 1] Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Istituto delle Scienze Neurologiche di Bologna, Ospedale Bellaria, Bologna, Italy. [2] Neurology Unit, Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.
    Huang T; Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, Ohio, USA.
    Zuchner S; 1] John P. Hussman Institute for Human Genomics, Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, USA. [2] Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, USA.
    Dallman JE; Department of Biology, University of Miami, Coral Gables, Florida, USA.
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    Źródło:
    Nature genetics [Nat Genet] 2015 Aug; Vol. 47 (8), pp. 926-32. Date of Electronic Publication: 2015 Jul 13.
    Typ publikacji:
    Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Mutation*
    Genetic Predisposition to Disease/*genetics
    Mitochondrial Proteins/*genetics
    Optic Atrophy, Autosomal Dominant/*genetics
    Phosphate Transport Proteins/*genetics
    Animals ; Animals, Genetically Modified ; COS Cells ; Charcot-Marie-Tooth Disease/genetics ; Charcot-Marie-Tooth Disease/metabolism ; Chlorocebus aethiops ; Embryo, Nonmammalian/embryology ; Embryo, Nonmammalian/metabolism ; Embryo, Nonmammalian/ultrastructure ; Exome/genetics ; Female ; HEK293 Cells ; Humans ; Male ; Membrane Proteins/genetics ; Membrane Proteins/metabolism ; Microscopy, Confocal ; Microscopy, Electron, Transmission ; Mitochondrial Membranes/metabolism ; Mitochondrial Proteins/metabolism ; Muscle Proteins/genetics ; Muscle Proteins/metabolism ; Optic Atrophy, Autosomal Dominant/metabolism ; Optic Atrophy, Autosomal Dominant/pathology ; Pedigree ; Phosphate Transport Proteins/metabolism ; Protein Binding ; RNA Interference ; Saccharomyces cerevisiae Proteins/genetics ; Saccharomyces cerevisiae Proteins/metabolism ; Sequence Analysis, DNA ; Zebrafish/embryology ; Zebrafish/metabolism
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
      Wyświetlanie 1-20 z 20

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