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    Wyświetlanie 1-4 z 4
    Tytuł:
    Correction: Polygenic risk for triglyceride levels in the presence of a high impact rare variant.
    Autorzy:
    Ying S; Institute of Medical Science, University of Toronto, Toronto, ON, Canada.; Schulich School of Medicine and Dentistry, Western University, London, ON, Canada.; Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, ON, Canada.
    Heung T; Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, ON, Canada.; The Dalglish Family 22Q Clinic, University Health Network, Toronto, ON, Canada.
    Thiruvahindrapuram B; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.
    Engchuan W; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.
    Yin Y; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.
    Blagojevic C; Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, ON, Canada.
    Zhang Z; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; Donnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, ON, Canada.; Department of Computer Science, University of Toronto, Toronto, ON, Canada.
    Hegele RA; Schulich School of Medicine and Dentistry, Western University, London, ON, Canada.
    Yuen RKC; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.
    Bassett AS; Institute of Medical Science, University of Toronto, Toronto, ON, Canada. .; Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, ON, Canada. .; The Dalglish Family 22Q Clinic, University Health Network, Toronto, ON, Canada. .; Department of Psychiatry, University of Toronto, Toronto, ON, Canada. .; Toronto General Hospital Research Institute and Campbell Family Mental Health Research Institute, Toronto, ON, Canada. .
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    Źródło:
    BMC medical genomics [BMC Med Genomics] 2023 Nov 23; Vol. 16 (1), pp. 302. Date of Electronic Publication: 2023 Nov 23.
    Typ publikacji:
    Published Erratum
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Polygenic risk for triglyceride levels in the presence of a high impact rare variant.
    Autorzy:
    Ying S; Institute of Medical Science, University of Toronto, Toronto, ON, Canada.; Schulich School of Medicine and Dentistry, Western University, London, ON, Canada.; Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, ON, Canada.
    Heung T; Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, ON, Canada.; The Dalglish Family 22Q Clinic, University Health Network, Toronto, ON, Canada.
    Thiruvahindrapuram B; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.
    Engchuan W; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.
    Yin Y; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.
    Blagojevic C; Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, ON, Canada.
    Zhang Z; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; Donnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, ON, Canada.; Department of Computer Science, University of Toronto, Toronto, ON, Canada.
    Hegele RA; Schulich School of Medicine and Dentistry, Western University, London, ON, Canada.
    Yuen RKC; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.
    Bassett AS; Institute of Medical Science, University of Toronto, Toronto, ON, Canada. .; Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, ON, Canada. .; The Dalglish Family 22Q Clinic, University Health Network, Toronto, ON, Canada. .; Department of Psychiatry, University of Toronto, Toronto, ON, Canada. .; Toronto General Hospital Research Institute and Campbell Family Mental Health Research Institute, Toronto, ON, Canada. .
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    Źródło:
    BMC medical genomics [BMC Med Genomics] 2023 Nov 08; Vol. 16 (1), pp. 281. Date of Electronic Publication: 2023 Nov 08.
    Typ publikacji:
    Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, Non-P.H.S.
    MeSH Terms:
    Cardiovascular Diseases*
    Hypertriglyceridemia*/genetics
    Adult ; Humans ; Male ; Young Adult ; Risk Factors ; Obesity ; Triglycerides ; Genome-Wide Association Study
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Rare and low frequency genomic variants impacting neuronal functions modify the Dup7q11.23 phenotype.
    Autorzy:
    Qaiser F; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; Genetics & Genome Biology Program, The Hospital for Sick Children, 686 Bay St., Toronto, ON, M5G 0A4, Canada.
    Yin Y; Genetics & Genome Biology Program, The Hospital for Sick Children, 686 Bay St., Toronto, ON, M5G 0A4, Canada.
    Mervis CB; Department of Psychological and Brain Sciences, University of Louisville, Louisville, KY, USA.
    Morris CA; Department of Pediatrics, UNLV School of Medicine, Las Vegas, NV, USA.
    Klein-Tasman BP; Department of Psychology, University of Wisconsin-Milwaukee, Milwaukee, WI, USA.
    Tam E; Department of Medicine, University of Toronto, Toronto, ON, Canada.
    Osborne LR; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; Department of Medicine, University of Toronto, Toronto, ON, Canada.
    Yuen RKC; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada. ryan.yuen@sickkids.ca.; Genetics & Genome Biology Program, The Hospital for Sick Children, 686 Bay St., Toronto, ON, M5G 0A4, Canada. ryan.yuen@sickkids.ca.
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    Źródło:
    Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Jan 06; Vol. 16 (1), pp. 6. Date of Electronic Publication: 2021 Jan 06.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Autism Spectrum Disorder*/genetics
    Chromosome Deletion ; DNA Copy Number Variations/genetics ; Female ; Genomics ; Humans ; Phenotype ; Pregnancy
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly.
    Autorzy:
    Woodbury-Smith M; Institute of Neuroscience, Newcastle University, c/o Sir James Spence Institute, Queen Victoria Road, Newcastle upon Tyne, NE1 4LP UK.; Program in Genetics and Genome Biology, The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada.
    Deneault E; Program in Genetics and Genome Biology, The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada.
    Yuen RKC; Program in Genetics and Genome Biology, The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada.
    Walker S; Program in Genetics and Genome Biology, The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada.
    Zarrei M; Program in Genetics and Genome Biology, The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada.
    Pellecchia G; Program in Genetics and Genome Biology, The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada.
    Howe JL; Program in Genetics and Genome Biology, The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada.
    Hoang N; Autism Research Unit, The Hospital for Sick Children, Toronto, ON Canada.; Centre for Addiction and Mental Health, The Hospital for Sick Children and University of Toronto, Toronto, ON Canada.
    Uddin M; Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, UAE.
    Marshall CR; Program in Genetics and Genome Biology, The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada.
    Chrysler C; Department of Psychiatry and Behavioural Neurosciences, McMaster University, Hamilton, ON Canada.
    Thompson A; Department of Psychiatry and Behavioural Neurosciences, McMaster University, Hamilton, ON Canada.
    Szatmari P; Centre for Addiction and Mental Health, The Hospital for Sick Children and University of Toronto, Toronto, ON Canada.
    Scherer SW; Program in Genetics and Genome Biology, The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada.; McLaughlin Centre, University of Toronto, Toronto, ON Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON Canada.
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    Źródło:
    Molecular autism [Mol Autism] 2017 Nov 09; Vol. 8, pp. 59. Date of Electronic Publication: 2017 Nov 09 (Print Publication: 2017).
    Typ publikacji:
    Case Reports; Journal Article
    MeSH Terms:
    Autism Spectrum Disorder/*genetics
    Intellectual Disability/*genetics
    Megalencephaly/*genetics
    rab GTP-Binding Proteins/*genetics
    Alleles ; Autism Spectrum Disorder/complications ; Autism Spectrum Disorder/diagnosis ; CRISPR-Cas Systems/genetics ; Cells, Cultured ; Child ; Codon, Nonsense ; Female ; Fibroblasts/cytology ; Genotype ; Humans ; Induced Pluripotent Stem Cells/cytology ; Induced Pluripotent Stem Cells/metabolism ; Intellectual Disability/complications ; Intellectual Disability/diagnosis ; Male ; Megalencephaly/complications ; Megalencephaly/diagnosis ; Pedigree ; Phenotype ; Whole Genome Sequencing ; rab GTP-Binding Proteins/deficiency
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
      Wyświetlanie 1-4 z 4

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