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21
المؤلفون: Ashish K. Maurya, Piali Sengupta
مصطلحات موضوعية: Ciliopathy, medicine.anatomical_structure, Microtubule, Kinase, Cilium, Mutant, medicine, Regulator, Biology, medicine.disease, Joubert syndrome, Sensory neuron, Cell biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5fbf4ba3c1eb4cc6fcaa91168ede50bcTest
https://doi.org/10.1101/2021.05.09.443182Test -
22
المؤلفون: Tang K. Tang, Jhih-Jie Tsai, Rong-Bin Li, Ting-Yu Chen, I-Ling Lu, Pin-Yeh Lin, Chia-Hsiang Chang
المصدر: Genesdevelopment. 35(21-22)
مصطلحات موضوعية: Centriole, Cilium, Cell Cycle, Cell Cycle Proteins, Cell cycle, Biology, Kidney Diseases, Cystic, medicine.disease, Joubert syndrome, Retina, Cell biology, Ciliopathy, Cerebellum, Genetics, medicine, Humans, Abnormalities, Multiple, Cerebellar hypoplasia (non-human), Eye Abnormalities, Progenitor cell, Microtubule-Associated Proteins, Biogenesis, Developmental Biology, Centrioles
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9fbdcb360d0efb106e2eff114f66ead9Test
https://pubmed.ncbi.nlm.nih.gov/34711653Test -
23دورية أكاديمية
المؤلفون: Isabelle Perrault, Jan Halbritter, Jonathan D. Porath, Xavier Gérard, Daniela A. Braun, Heon Yung Gee, Hanan Fathy, Sophie Saunier, Valérie Cormier‐Daire, Sophie Thomas, Tania Attié‐Bitach, Nathalie Boddaert, Michael Taschner, Markus Schueler, Esben Lorentzen, Richard P. Lifton, Jennifer A. Lawson, Meriem Garfa-Traoré, Edgar A. Otto, Philippe Bastin, Catherine Caillaud, Josseline Kaplan, Jean‐Michel Rozet, Friedhelm Hildebrandt
مصطلحات موضوعية: Ciliopathies Genetic Disorders Involving Primary Cilia, Genetics, FOS Biological sciences, Biochemistry, Genetics and Molecular Biology, Life Sciences, Nephropathic Cystinosis Research, Pathology and Forensic Medicine, Medicine, Health Sciences, Development and Disorders of Fetal Brain, Pediatrics, Perinatology and Child Health, Intraflagellar Transport, Ciliopathies, Ciliopathy, Cilium, Biology, Bardet–Biedl syndrome, Ciliogenesis, Intraflagellar transport, GLI2, Phenotype, Joubert syndrome, Mutation, Gene, Cell biology, Sonic hedgehog, Mutant
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24دورية أكاديمية
المؤلفون: Albane A. Bizet, Anita Becker-Heck, Rebecca Ryan, Kristina Weber, Emilie Filhol, Pauline Krug, Jan Halbritter, Marion Delous, Marie-Christine Lasbennes, Bolan Linghu, Edward J. Oakeley, Mohammed Zarhrate, Patrick Nitschké, Meriem Garfa-Traoré, Fabrizio C. Serluca, Fan Yang, Tewis Bouwmeester, Lucile Pinson, Élisabeth Cassuto, P Dubot, Neveen A. Soliman, José‐Alain Sahel, Rémi Salomon, Iain A. Drummond, Marie‐Claire Gubler, Corinne Antignac, Salah‐Dine Chibout, Joseph D. Szustakowski, Friedhelm Hildebrandt, Esben Lorentzen, Andreas W. Sailer, Alexandre Benmerah, Pierre Saint-Mézard, Sophie Saunier
مصطلحات موضوعية: Ciliopathies Genetic Disorders Involving Primary Cilia, Genetics, FOS Biological sciences, Biochemistry, Genetics and Molecular Biology, Life Sciences, Development and Disorders of Fetal Brain, Pediatrics, Perinatology and Child Health, Medicine, Health Sciences, Brain Fluid Dynamics and Waste Clearance Mechanisms, Cellular and Molecular Neuroscience, Neuroscience, Ciliopathies, Cilium, Ciliogenesis, Microtubule, Biology, Cell biology, Nephronophthisis, Zebrafish, Protein subunit, Intraflagellar transport, Ciliopathy, Joubert syndrome, Mutant, Gene, Phenotype
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25
المؤلفون: Martin Preisel, Sandra P. Toelle, Saskia B. Wortmann, Anja Uhmann, G. Christoph Korenke, Ingrid Bader, Raimund Kottke, Eugen Boltshauser, Gökhan Yigit, Bernd Wollnik, Heidi Hahn, Yun Li, Simone Schröder, Janine Altmüller, Saskia Biskup, Sarah Wente-Schulz, Steffi Dreha-Kulaczewski, Knut Brockmann, Johannes A. Mayr, Andrea Bevot
المساهمون: University of Zurich, Brockmann, Knut
المصدر: Genetics in Medicine
مصطلحات موضوعية: 2716 Genetics (clinical), SUFU, Apraxias, Kruppel-Like Transcription Factors, 610 Medicine & health, Biology, Joubert syndrome, Article, 03 medical and health sciences, sonic hedgehog, 0302 clinical medicine, GLI1, GLI2, GLI3, medicine, Cogan Syndrome, Humans, Hedgehog Proteins, Genetics(clinical), Sonic hedgehog, congenital ocular motor apraxia, Genetics (clinical), Exome sequencing, Genetics, Cilium, medicine.disease, Repressor Proteins, 10036 Medical Clinic, 030221 ophthalmology & optometry, biology.protein, COMA, Technology Platforms, Smoothened, 030217 neurology & neurosurgery
وصف الملف: application/pdf; PIIS1098360021025399.pdf - application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9b7d222dd018bf76c63722c436e41b0Test
http://edoc.mdc-berlin.de/20495/1/20495oa.pdfTest -
26
المؤلفون: Joseph G. Gleeson, Qiong Song
المصدر: Developmental Cell. 51:661-663
مصطلحات موضوعية: 0303 health sciences, Cell signaling, Cerebellum, Cilium, Cell Biology, Biology, medicine.disease, General Biochemistry, Genetics and Molecular Biology, Joubert syndrome, 03 medical and health sciences, Ciliopathy, 0302 clinical medicine, medicine.anatomical_structure, medicine, Signal transduction, Molecular Biology, Protein kinase B, Neuroscience, 030217 neurology & neurosurgery, PI3K/AKT/mTOR pathway, 030304 developmental biology, Developmental Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a9295d19ac624f4355f018d798b13cf8Test
https://doi.org/10.1016/j.devcel.2019.11.017Test -
27
المؤلفون: Philip Booth, John A. Sayer, Seamus M. McLafferty, Laura A. Devlin, Kathryn White, Colin G. Miles, Meral Gunay-Aygun, Shalabh Srivastava, Elisa Molinari, Simon A. Ramsbottom, Sumaya Alkanderi
المصدر: Scientific Reports, Vol 9, Iss 1, Pp 1-13 (2019)
Scientific Reportsمصطلحات موضوعية: 0301 basic medicine, Nonsense mutation, lcsh:Medicine, Biology, Compound heterozygosity, Joubert syndrome, Article, Retina, Antisense oligonucleotide therapy, 03 medical and health sciences, Exon, 0302 clinical medicine, Ciliogenesis, Cerebellum, medicine, Humans, Abnormalities, Multiple, Cilia, Eye Abnormalities, lcsh:Science, Multidisciplinary, Paediatric kidney disease, Cilium, lcsh:R, Exons, Fibroblasts, Kidney Diseases, Cystic, medicine.disease, Exon skipping, Ciliopathies, Cell biology, Ciliopathy, Protein Transport, 030104 developmental biology, Mechanisms of disease, lcsh:Q, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19fc2779f7c9b1c9b2902fb07b63aa3aTest
http://link.springer.com/article/10.1038/s41598-019-47243-zTest -
28
المؤلفون: Catherine Hong Huan Hor, Eyleen Lk Goh
المصدر: Current Opinion in Genetics & Development. 56:61-68
مصطلحات موضوعية: GTPase, Biology, Ciliopathies, Joubert syndrome, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, Humans, Genetic Predisposition to Disease, Hedgehog Proteins, Cilia, Monomeric GTP-Binding Proteins, 030304 developmental biology, 0303 health sciences, ADP-Ribosylation Factors, Cilium, Disease mechanisms, medicine.disease, Carpenter syndrome, Hedgehog signalling, Signalling, rab GTP-Binding Proteins, Multigene Family, Neuroscience, 030217 neurology & neurosurgery, Signal Transduction, Developmental Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93bec835e47e457a5f1124be2e86ac49Test
https://doi.org/10.1016/j.gde.2019.07.009Test -
29
المؤلفون: Megan Davey, Amy M. Fraser
المصدر: Fraser, A & Davey, M 2019, ' TALPID3 in Joubert Syndrome and related ciliopathy disorders ', Current Opinion in Genetics and Development . https://doi.org/10.1016/j.gde.2019.06.010Test
مصطلحات موضوعية: Centriole, Embryonic Development, Cell Cycle Proteins, Biology, Ciliopathies, Joubert syndrome, 03 medical and health sciences, Ocular Motility Disorders, 0302 clinical medicine, Cerebellar Diseases, Organelle, Genetics, medicine, Animals, Humans, Abnormalities, Multiple, Cytoskeleton, 030304 developmental biology, 0303 health sciences, Cilium, Gene Expression Regulation, Developmental, medicine.disease, Ciliopathy, Muscle Hypotonia, Signal transduction, Neuroscience, 030217 neurology & neurosurgery, Developmental Biology
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9478b4faac9bc1db4511f241a538e1d7Test
https://doi.org/10.1016/j.gde.2019.06.010Test -
30
المؤلفون: Fowzan S. Alkuraya, Mais Hashem, Joseph G. Gleeson, Tarfa Al-Sheddi, Fatema Alzahrani, Firdous Abdulwahab, Nadia Saqati, Mohammad M. Al-Qattan, Valentina Stanley, Futwan Al-Mohanna, Nour Ewida, Eman Alobeid, Abduljabbar Alshenqiti, Fatma Mujgan Sonmez, Hamad Al-Zaidan, Ranad Shaheen, Damir Musaev, Niema Ibrahim, Nan Jiang
المصدر: The American Journal of Human Genetics. 104:731-737
مصطلحات موضوعية: Male, Adolescent, Turkey, Genes, Recessive, Biology, Nervous System Malformations, Ciliopathies, Retina, Joubert syndrome, Consanguinity, 03 medical and health sciences, Report, Cerebellum, Ciliogenesis, Genetics, medicine, Humans, Abnormalities, Multiple, Exome, Cilia, Eye Abnormalities, Alleles, Genetics (clinical), Exome sequencing, 030304 developmental biology, 0303 health sciences, Polydactyly, Genetic heterogeneity, Cilium, Homozygote, 030305 genetics & heredity, Sequence Analysis, DNA, Kidney Diseases, Cystic, Orofaciodigital Syndromes, medicine.disease, eye diseases, Cytoskeletal Proteins, Ciliopathy, Phenotype, Child, Preschool, Mutation, Signal Transduction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ae46f21cdaf9ed5cb81a3130d68fdd4Test
https://doi.org/10.1016/j.ajhg.2019.02.018Test