يعرض 1 - 4 نتائج من 4 نتيجة بحث عن '"JOUBERT syndrome"', وقت الاستعلام: 0.95s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Joubert syndrome causing mutation in C2 domain of CC2D2A affects structural integrity of cilia and cellular signaling molecules.

    المؤلفون: Jayarajan, Roopasree O.1,2 (AUTHOR), Chakraborty, Soura3 (AUTHOR), Raghu, Kozhiparambil Gopalan1,2 (AUTHOR), Purushothaman, Jayamurthy1,2 (AUTHOR), Veleri, Shobi4 (AUTHOR) shobi.veleri@icmr.gov.in

    المصدر: Experimental Brain Research. Mar2024, Vol. 242 Issue 3, p619-637. 19p.

    مصطلحات موضوعية: *JOUBERT syndrome, *CELL communication, *CILIA & ciliary motion, *GENE ontology, *CELL physiology, *GENE expression profiling


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  2. 2
    Yeast as a simple eukaryotic model to study human diseases linked to membrane trafficking

    المؤلفون: J De Craene, Hélène Dollfus, Sylvie Friant, Vincent Marion, Jocelyn Laporte, Séverine Bär

    المصدر: Cilia

    مصطلحات موضوعية: Genetics, biology, Myotubularin, Endosome, Cilium, Saccharomyces cerevisiae, Cell Biology, medicine.disease, biology.organism_classification, Ciliopathies, Joubert syndrome, Cell biology, Poster Presentation, medicine, Centronuclear myopathy, Gene

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e4c259383b5436cee713bb70a7bced2Test


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  3. 3
    Joubert syndrome and related disorders: a paradigm to understand splitting and lumping in ciliopathies

    المؤلفون: EM Valente

    المصدر: Cilia, Vol 1, Iss Suppl 1, p O27 (2012)
    Cilia

    مصطلحات موضوعية: Genetics, Polydactyly, lcsh:Cytology, Genetic heterogeneity, Cilium, Cell Biology, Biology, Bioinformatics, medicine.disease, Ciliopathies, Joubert syndrome, Ciliopathy, Nephronophthisis, medicine, Oral Presentation, lcsh:QH573-671, Oculomotor apraxia

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f8b3596ae935380c7481133b8f40acfTest


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  4. 4
    The ciliary proteins Meckelin and Jouberin are required for retinoic acid-dependent neural differentiation of mouse embryonic stem cells

    المؤلفون: Sveva Romani, Enza Maria Valente, R De Mori, Barbara Illi, Joseph G. Gleeson

    المصدر: Cilia, Vol 1, Iss Suppl 1, p P77 (2012)
    Cilia

    مصطلحات موضوعية: lcsh:Cytology, Cilium, Retinoic acid, Cell Biology, Biology, medicine.disease, Embryonic stem cell, Ciliopathies, Hedgehog signaling pathway, Joubert syndrome, Cell biology, chemistry.chemical_compound, chemistry, Poster Presentation, medicine, lcsh:QH573-671, Meckel syndrome, Developmental biology

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d23efc6a3d2734c368f1974892e1b403Test


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