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    Wyświetlanie 1-2 z 2
    Tytuł:
    Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.
    Autorzy:
    Simons C; Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia.
    Rash LD; Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia.
    Crawford J; Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia.
    Ma L; Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia.
    Cristofori-Armstrong B; Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia.
    Miller D; 1] Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia. [2] Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.
    Ru K; Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia.
    Baillie GJ; Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia.
    Alanay Y; Pediatric Genetics, Department of Pediatrics, Acibadem University School of Medicine, Istanbul, Turkey.
    Jacquinet A; Center for Human Genetics, Centre Hospitalier Universitaire and University of Liège, Liège, Belgium.
    Debray FG; Center for Human Genetics, Centre Hospitalier Universitaire and University of Liège, Liège, Belgium.
    Verloes A; 1] Department of Genetics, Assistance Publique des Hôpitaux de Paris (AP-HP), Robert Debré Hospital, Paris, France. [2] INSERM UMR 1141, Robert Debré Hospital, Paris, France.
    Shen J; Medical Genetics and Metabolism, Children's Hospital Central California, Madera, California, USA.
    Yesil G; Department of Medical Genetics, Bezmialem Vakif University School of Medicine, Istanbul, Turkey.
    Guler S; Department of Medical Genetics, Bezmialem Vakif University School of Medicine, Istanbul, Turkey.
    Yuksel A; Department of Medical Genetics, Bezmialem Vakif University School of Medicine, Istanbul, Turkey.
    Cleary JG; Real Time Genomics, Ltd., Hamilton, New Zealand.
    Grimmond SM; 1] Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia. [2] Wolfson Wohl Cancer Research Centre, Institute for Cancer Sciences, University of Glasgow, Glasgow, UK.
    McGaughran J; 1] Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia. [2] School of Medicine, The University of Queensland, Brisbane, Queensland, Australia.
    King GF; Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia.
    Gabbett MT; 1] Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia. [2] School of Medicine, Griffith University, Gold Coast, Queensland, Australia.
    Taft RJ; 1] Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia. [2] Department of Integrated Systems Biology, School of Medicine and Health Sciences, George Washington University, Washington, DC, USA. [3] Department of Pediatrics, School of Medicine and Health Sciences, George Washington University, Washington, DC, USA. [4] Illumina, Inc., San Diego, California, USA.
    Pokaż więcej
    Źródło:
    Nature genetics [Nat Genet] 2015 Jan; Vol. 47 (1), pp. 73-7. Date of Electronic Publication: 2014 Nov 24.
    Typ publikacji:
    Case Reports; Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Mutation, Missense*
    Epilepsy/*genetics
    Ether-A-Go-Go Potassium Channels/*genetics
    Hallux/*abnormalities
    Intellectual Disability/*genetics
    Nails, Malformed/*genetics
    Thumb/*abnormalities
    Amino Acid Sequence ; Animals ; Child ; Child, Preschool ; Conserved Sequence ; Ether-A-Go-Go Potassium Channels/chemistry ; Ether-A-Go-Go Potassium Channels/physiology ; Exons/genetics ; Female ; HEK293 Cells ; Humans ; Infant ; Male ; Molecular Sequence Data ; Mosaicism ; Oocytes ; Protein Conformation ; Recombinant Fusion Proteins/metabolism ; Sequence Homology, Amino Acid ; Xenopus laevis
    SCR Disease Name:
    Temple-Baraitser Syndrome
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Corrigendum: Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.
    Autorzy:
    Simons C
    Rash LD
    Crawford J
    Ma L
    Cristofori-Armstrong B
    Miller D
    Ru K
    Baillie GJ
    Alanay Y
    Jacquinet A
    Debray FG
    Verloes A
    Shen J
    Yesil G
    Guler S
    Yuksel A
    Cleary JG
    Grimmond SM
    McGaughran J
    King GF
    Gabbett MT
    Taft RJ
    Pokaż więcej
    Źródło:
    Nature genetics [Nat Genet] 2015 Mar; Vol. 47 (3), pp. 304.
    Typ publikacji:
    Published Erratum
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
      Wyświetlanie 1-2 z 2

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