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Wyszukujesz frazę ""Cehajic-Kapetanovic J"" wg kryterium: Autor


Wyświetlanie 1-3 z 3
Tytuł:
Clinical applications of microperimetry in RPGR-related retinitis pigmentosa: a review.
Autorzy:
Buckley TMW; Oxford Eye Hospital, Oxford University Hospitals NHS Trust, Oxford, UK.
Jolly JK; Oxford Eye Hospital, Oxford University Hospitals NHS Trust, Oxford, UK.; Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, Oxford Biomedical Research Centre, University of Oxford, Oxford, UK.
Josan AS; Oxford Eye Hospital, Oxford University Hospitals NHS Trust, Oxford, UK.; Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, Oxford Biomedical Research Centre, University of Oxford, Oxford, UK.
Wood LJ; Oxford Eye Hospital, Oxford University Hospitals NHS Trust, Oxford, UK.; Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, Oxford Biomedical Research Centre, University of Oxford, Oxford, UK.
Cehajic-Kapetanovic J; Oxford Eye Hospital, Oxford University Hospitals NHS Trust, Oxford, UK.; Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, Oxford Biomedical Research Centre, University of Oxford, Oxford, UK.
MacLaren RE; Oxford Eye Hospital, Oxford University Hospitals NHS Trust, Oxford, UK.; Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, Oxford Biomedical Research Centre, University of Oxford, Oxford, UK.
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Źródło:
Acta ophthalmologica [Acta Ophthalmol] 2021 Dec; Vol. 99 (8), pp. 819-825. Date of Electronic Publication: 2021 Mar 29.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Mutation*
DNA/*genetics
Eye Proteins/*genetics
Retina/*diagnostic imaging
Retinitis Pigmentosa/*diagnosis
Visual Field Tests/*methods
DNA Mutational Analysis ; Electroretinography ; Eye Proteins/metabolism ; Humans ; Pedigree ; Retina/physiopathology ; Retinitis Pigmentosa/genetics ; Retinitis Pigmentosa/physiopathology ; Tomography, Optical Coherence/methods ; Visual Acuity
Czasopismo naukowe
Tytuł:
A novel homozygous c.67C>T variant in retinol binding protein 4 (RBP4) associated with retinitis pigmentosa and childhood acne vulgaris.
Autorzy:
Cehajic-Kapetanovic J; Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust , Oxford, UK.; Nuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences, Oxford University , Oxford, UK.
Jasani KM; Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust , Oxford, UK.
Shanks M; Genetics Laboratories, Churchill Hospital, Oxford University Hospitals NHS Foundation Trust , Oxford, UK.
Clouston P; Genetics Laboratories, Churchill Hospital, Oxford University Hospitals NHS Foundation Trust , Oxford, UK.
MacLaren RE; Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust , Oxford, UK.; Nuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences, Oxford University , Oxford, UK.
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Źródło:
Ophthalmic genetics [Ophthalmic Genet] 2020 Jun; Vol. 41 (3), pp. 288-292. Date of Electronic Publication: 2020 Apr 23.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Homozygote*
Mutation*
Acne Vulgaris/*pathology
Retinitis Pigmentosa/*pathology
Retinol-Binding Proteins, Plasma/*genetics
Acne Vulgaris/complications ; Acne Vulgaris/genetics ; Female ; Genes, Recessive ; Humans ; Male ; Middle Aged ; Pedigree ; Phenotype ; Retinitis Pigmentosa/complications ; Retinitis Pigmentosa/genetics
Czasopismo naukowe
Tytuł:
A novel splice-site variant in CDH23 in a patient with Usher syndrome type 1.
Autorzy:
Menghini M; Nuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences, Oxford University, Oxford, UK.; Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Cehajic-Kapetanovic J; Nuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences, Oxford University, Oxford, UK.; Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Yusuf IH; Nuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences, Oxford University, Oxford, UK.; Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
MacLaren RE; Nuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences, Oxford University, Oxford, UK.; Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
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Źródło:
Ophthalmic genetics [Ophthalmic Genet] 2019 Dec; Vol. 40 (6), pp. 545-548. Date of Electronic Publication: 2019 Nov 22.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Mutation*
Cadherins/*genetics
RNA Splicing/*genetics
Usher Syndromes/*genetics
Usher Syndromes/*pathology
Adult ; Cadherin Related Proteins ; Female ; Genotype ; Humans
Czasopismo naukowe
    Wyświetlanie 1-3 z 3

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