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المؤلفون: Katsumi Hayakawa, Hirotomo Saitsu, Hiroko Matsushita, Takuya Hiraide, Sozo Okano, Mitsuhiro Kato, Mitsuko Nakashima
المصدر: Brain and Development. 44:161-165
مصطلحات موضوعية: endocrine system, Pathology, medicine.medical_specialty, business.industry, Cilium, General Medicine, medicine.disease, Compound heterozygosity, Ciliopathies, Hypotonia, Joubert syndrome, Developmental Neuroscience, Nephronophthisis, Pediatrics, Perinatology and Child Health, Polycystic kidney disease, Medicine, Neurology (clinical), medicine.symptom, Oculomotor apraxia, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::4c027a1854a2e077406d573caf5966a4Test
https://doi.org/10.1016/j.braindev.2021.10.004Test -
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المؤلفون: Alanna Strong, Dong Li, Hakon Hakonarson, Frank D. Mentch
المصدر: American Journal of Medical Genetics Part A. 185:1266-1269
مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, business.industry, Cilium, 030105 genetics & heredity, medicine.disease, Joubert syndrome, 03 medical and health sciences, Situs inversus, Dysgenesis, Ciliopathy, 030104 developmental biology, Nephronophthisis, Genetics, medicine, business, Heterotaxy, Genetics (clinical), Primary ciliary dyskinesia
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d92c6f3388a4b8a97bec3facf2bf3f37Test
https://doi.org/10.1002/ajmg.a.62093Test -
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المؤلفون: Dan Doherty, Nadine Bachmann, Rachel H. Giles, Erica E. Davis, Asbjørn Holmgren, Dulika S. Sumathipala, Barbara Käsmann-Kellner, Lokuliyange D S Senaratne, Suzanne Crowley, Sebastian Patzke, Nicholas Katsanis, Petter Strømme, Daniel Epting, Christian Decker, Kari-Anne M Frikstad, Carsten Bergmann, Manuela Zucknick, Diana Bracht, Tuva Barøy, Elisabeth Ott, Eva Decker, Soeren S. Lienkamp, Doriana Misceo, Ian G. Phelps, Heymut Omran, Miriam Schmidts, Alma Sikiric, Selma Mujezinovic Larsen, Julia Wallmeier, Eirik Frengen
المصدر: Human Mutation
مصطلحات موضوعية: Male, Pathology, Ciliopathies, whole exome sequencing, CBY1, Cerebellum, Eye Abnormalities, Child, Research Articles, Zebrafish, Genetics (clinical), Exome sequencing, 0303 health sciences, Polydactyly, Cilium, Homozygote, 030305 genetics & heredity, Nuclear Proteins, Kidney Diseases, Cystic, Magnetic Resonance Imaging, Smoothened Receptor, Pedigree, 3. Good health, Phenotype, Child, Preschool, primary cilia defect, Female, medicine.symptom, Research Article, medicine.medical_specialty, Adolescent, Biology, Retina, Joubert syndrome, Young Adult, 03 medical and health sciences, Genetics, medicine, Animals, Humans, Abnormalities, Multiple, Cilia, 030304 developmental biology, Cerebellar ataxia, Genetic heterogeneity, Infant, Newborn, Infant, Fibroblasts, medicine.disease, Ciliopathy, ciliopathy, Mutation, Carrier Proteins
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff060a6ff69fa03ce10682a61d2879e7Test
https://doi.org/10.1002/humu.24127Test -
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المؤلفون: Melissa R. Bentley-Ford, Reagan S. Andersen, Mandy J. Croyle, Courtney J. Haycraft, Kelsey R. Clearman, Jeremy B. Foote, Jeremy F. Reiter, Bradley K. Yoder
المصدر: Frontiers in Cell and Developmental Biology
Frontiers in Cell and Developmental Biology, Vol 9 (2021)مصطلحات موضوعية: Pathology, medicine.medical_specialty, kidney, QH301-705.5, acinar-to-ductal metaplasia (ADM), heart, Biology, Joubert syndrome, Cell and Developmental Biology, Nephronophthisis, medicine, Glucose homeostasis, pancreas, Biology (General), Original Research, Kidney, Embryonic heart, Cilium, cilia, Cell Biology, medicine.disease, ataxin 10 (ATXN10), Ciliopathy, medicine.anatomical_structure, Spinocerebellar ataxia, epithelial-to-mesenchymal transition (EMT), Developmental Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5aa419a7768890a294be280429ab05bdTest
http://europepmc.org/articles/PMC8712648Test -
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المؤلفون: Karen L. David, Carlos Ferreira, Theo Heller, Ellen Macnamara, Camilo Toro, William A. Gahl, Michele Nehrebecky, Thierry Vilboux, Joseph Snow, Audrey Thurm, Meral Gunay-Aygun, Isabel Hardee, Ariane Soldatos, Mariska Davids, Wadih M. Zein, May Christine V. Malicdan
مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Ataxia, Adolescent, Biology, Joubert syndrome, Article, Retina, 03 medical and health sciences, Young Adult, Ciliogenesis, Cerebellum, INPP5E, Genetics, medicine, Humans, Abnormalities, Multiple, Cilia, Eye Abnormalities, Genetics (clinical), Polydactyly, Cilium, Homozygote, Fibroblasts, Kidney Diseases, Cystic, medicine.disease, Magnetic Resonance Imaging, Hypotonia, eye diseases, Ciliopathies, Phosphoric Monoester Hydrolases, Pedigree, Ciliopathy, 030104 developmental biology, Phenotype, Mutation, Female, medicine.symptom
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c6616fe51f019d946740c41ddc5e43fTest
https://europepmc.org/articles/PMC5685896Test/ -
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المؤلفون: Yu-ichi Goto, Takashi Saito, Takeki Furue, Keishi Narita, Hirotsugu Kitayama, Keiko Maeda, Eihiko Takahashi, Shinji Yamakura, Shuhei Ide, Yuji Iwasaki, Sen Takeda, Kiyoshi Matsui, Hongmei Dai, Masayuki Itoh, Masataka Arima
المصدر: Braindevelopment. 40(4)
مصطلحات موضوعية: 0301 basic medicine, Pathology, Cell Cycle Proteins, 030105 genetics & heredity, Compound heterozygosity, Cerebellum, Eye Abnormalities, Cells, Cultured, Sanger sequencing, Polycystic Kidney Diseases, Cilium, General Medicine, Kidney Diseases, Cystic, Immunohistochemistry, Neoplasm Proteins, Coloboma, symbols, Female, Adult, medicine.medical_specialty, Adolescent, Biology, Joubert syndrome, Retina, 03 medical and health sciences, symbols.namesake, Young Adult, Developmental Neuroscience, Microscopy, Electron, Transmission, Antigens, Neoplasm, Cerebellar Diseases, Ciliogenesis, Exome Sequencing, medicine, Humans, Abnormalities, Multiple, Family, Cilia, Gene, Ciliary membrane, Centrosome, Fibroblasts, medicine.disease, Molecular Weight, Cytoskeletal Proteins, 030104 developmental biology, Pediatrics, Perinatology and Child Health, Mutation, Neurology (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::edc121cac4186b7a23dd2d43235e9ca6Test
https://pubmed.ncbi.nlm.nih.gov/29217415Test -
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المؤلفون: Amy R. Barker, Rhys Thomas, Helen R. Dawe
المصدر: Organogenesis. 10:96-107
مصطلحات موضوعية: Central Nervous System, Embryology, Pathology, medicine.medical_specialty, Biomedical Engineering, Review, Biology, Kidney, Ciliopathies, Bone and Bones, Joubert syndrome, Nephronophthisis, Ciliogenesis, medicine, Polycystic kidney disease, Humans, Cilia, Encephalocele, Meckel-Gruber Syndrome, Polycystic Kidney Diseases, Transplantation, Cilium, medicine.disease, Ciliopathy, Kidney Diseases, Retinitis Pigmentosa, Ciliary Motility Disorders, Developmental Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0ea1cbda77ed50b773e840951ce9c9fTest
https://doi.org/10.4161/org.27375Test -
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المؤلفون: Euna B. Koo, Albert Y. Wu, Vinit B. Mahajan, Yang Sun, Tia J. Kowal, Stephanie F Wang, Ke Ning
المصدر: Genes, Vol 9, Iss 12, p 605 (2018)
Genesمصطلحات موضوعية: 0301 basic medicine, Retinal degeneration, Pathology, medicine.medical_specialty, lcsh:QH426-470, genetic structures, Review, Nystagmus, Joubert syndrome, 03 medical and health sciences, primary cilia, 0302 clinical medicine, Ptosis, Genetics, medicine, Strabismus, Genetics (clinical), medicine.diagnostic_test, business.industry, Cilium, Magnetic resonance imaging, medicine.disease, eye diseases, 3. Good health, Motor coordination, lcsh:Genetics, 030104 developmental biology, medicine.symptom, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e354a774a30fd6459a76e27bb3131bb6Test
https://doi.org/10.3390/genes9120605Test -
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المؤلفون: Maryse Bonnière, Andrea Aguilar, Alice Meunier, Férechté Encha-Razavi, Jelena Martinovic, Tania Attié-Bitach, Nathalie Spassky, Laetitia Strehl
المصدر: Proceedings of the National Academy of Sciences. 109:16951-16956
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Cerebellum, Cell Cycle Proteins, Biology, Retina, Statistics, Nonparametric, Joubert syndrome, Mice, Microscopy, Electron, Transmission, Antigens, Neoplasm, Cerebellar Diseases, medicine, Animals, Humans, Abnormalities, Multiple, Granulocyte Precursor Cells, Hedgehog Proteins, Eye Abnormalities, Sonic hedgehog, Meckel syndrome, In Situ Hybridization, Cell Proliferation, Encephalocele, Polycystic Kidney Diseases, Multidisciplinary, Cilium, Kidney Diseases, Cystic, Biological Sciences, medicine.disease, Immunohistochemistry, Hypoplasia, Neoplasm Proteins, Cytoskeletal Proteins, Ciliopathy, medicine.anatomical_structure, Microscopy, Fluorescence, Cerebellar vermis, biology.protein, RNA Interference, Retinitis Pigmentosa, Ciliary Motility Disorders, Signal Transduction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a17f29e19212584ddbe46aa1b6e60c0Test
https://doi.org/10.1073/pnas.1201408109Test -
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المؤلفون: Heymut Omran, Jens König, Beate Ermisch-Omran
المصدر: Pediatric Kidney Disease ISBN: 9783662529706
مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, business.industry, Cilium, Genetic disorder, Senior–Løken syndrome, medicine.disease, Joubert syndrome, 03 medical and health sciences, Ciliopathy, 030104 developmental biology, 0302 clinical medicine, Nephronophthisis, medicine, business, Ciliary base, 030217 neurology & neurosurgery, Meckel-Gruber Syndrome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::236a3983b34c14bfb3a9d9dd7ce76e87Test
https://doi.org/10.1007/978-3-662-52972-0_13Test