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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: Ruikun Hu, Ying Cao, Hong Wang, Jingyu Li, Miaomiao Jin, Weilai Huang, Wenyan Xu
المصدر: The FASEB Journal. 33:2848-2857
مصطلحات موضوعية: 0301 basic medicine, Cilium, Biology, medicine.disease, Biochemistry, Joubert syndrome, Cell biology, 03 medical and health sciences, chemistry.chemical_compound, 030104 developmental biology, 0302 clinical medicine, Ezrin, chemistry, Ciliogenesis, INPP5E, Genetics, medicine, Polycystic kidney disease, Basal body, Phosphatidylinositol, Molecular Biology, 030217 neurology & neurosurgery, Biotechnology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::eed907e84654d47f4de8fd96266cd104Test
https://doi.org/10.1096/fj.201800385rrrTest -
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المؤلفون: Bachmann-Gagescu, Ruxandra
المساهمون: University of Zurich, Bachmann-Gagescu, Ruxandra
المصدر: The Journal of Pathology
مصطلحات موضوعية: 0301 basic medicine, cerebellum, 10039 Institute of Medical Genetics, Central nervous system, 610 Medicine & health, Cell Cycle Proteins, Biology, Ciliopathies, Retina, Joubert syndrome, Pathology and Forensic Medicine, Mice, sonic hedgehog, 03 medical and health sciences, Human health, primary cilia, 0302 clinical medicine, medicine, Animals, Humans, Abnormalities, Multiple, Hedgehog Proteins, Cilia, Eye Abnormalities, Original Paper, Cilium, ataxia, Kidney Diseases, Cystic, medicine.disease, Original Papers, United Kingdom, Hedgehog signaling pathway, KIAA0586, 2734 Pathology and Forensic Medicine, Ciliopathy, 030104 developmental biology, medicine.anatomical_structure, 030220 oncology & carcinogenesis, 570 Life sciences, biology, Causal link, Neuroscience
وصف الملف: Bachmann_J_pathol_ZORA.pdf - application/pdf; path.5291.pdf - application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a100374cfa14dcf373a90eb6f3ce325Test
https://doi.org/10.1002/path.5291Test -
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المؤلفون: Takao Yasuhara, Yoshiyuki Hanaoka, S. Sato, Keiko Shimojima, Katsuhiro Kobayashi, Toshiyuki Yamamoto, Harumi Yoshinaga, Makio Oka
المصدر: Clinical Genetics. 89:739-743
مصطلحات موضوعية: 0301 basic medicine, Genetics, Proband, Cilium, Hydrolethalus syndrome, Consanguinity, Biology, medicine.disease, Joubert syndrome, 03 medical and health sciences, Ciliopathy, 030104 developmental biology, Mutation (genetic algorithm), medicine, Sibling, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::be5d9502920e1efd76550e44e1a77e67Test
https://doi.org/10.1111/cge.12752Test -
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المؤلفون: Samantha A. Brugmann, Dwight R. Cordero, Jill A. Helms
المصدر: American Journal of Medical Genetics Part A. :2995-3006
مصطلحات موضوعية: Craniofacial abnormality, Population, Gene mutation, Biology, Ciliopathies, Article, Joubert syndrome, Craniofacial Abnormalities, Genetics, medicine, Animals, Humans, Cilia, Craniofacial, education, Genetics (clinical), education.field_of_study, Tumor Suppressor Proteins, Cilium, Anatomy, medicine.disease, Disease Models, Animal, Phenotype, Mutation, Ciliary Motility Disorders, Neuroscience, Forecasting, Signal Transduction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15da4370c420244392429816ca0e83d4Test
https://doi.org/10.1002/ajmg.a.33727Test -
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المؤلفون: Murray C. Killingsworth, Frédéric Clotman, Frédéric P. Lemaigre, Louis Libbrecht, Tania Roskams, Christine C. K. Loo
المصدر: Liver International. 28:377-384
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Hepatology, Polydactyly, Cellular differentiation, Cilium, Biology, medicine.disease, digestive system, Joubert syndrome, Ductal Plate Malformation, Biliary tract, medicine, Hepatic stellate cell, Meckel syndrome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::cebb77e5ad9c50530e0f7d90868be06fTest
https://doi.org/10.1111/j.1478-3231.2007.01617.xTest -
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المؤلفون: Marta Romani, Enza Maria Valente, Francesca Mancini, Alessia Micalizzi
المصدر: eLS
مصطلحات موضوعية: Genetics, Pathology, medicine.medical_specialty, Ataxia, Cerebellar ataxia, Cilium, Biology, medicine.disease, Ciliopathies, Hypotonia, Joubert syndrome, medicine, medicine.symptom, Meckel syndrome, Cerebellar hypoplasia
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::3afa0d23e4d55bf46321892de28e425bTest
https://doi.org/10.1002/9780470015902.a0024288Test -
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المؤلفون: Carsten Bergmann, Valeska Frank
المصدر: eLS
مصطلحات موضوعية: Genetics, Cystic kidney, medicine.diagnostic_test, urogenital system, Genetic heterogeneity, Cilium, Biology, medicine.disease, Ciliopathies, Joubert syndrome, medicine, Meckel syndrome, Exome sequencing, Genetic testing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::c9e51df23f51d8460cab5b13e1e70a41Test
https://doi.org/10.1002/9780470015902.a0024286Test